#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TNFRSF4	7293	broad.mit.edu	37	1	1148396	1148396	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:1148396G>T	ENST00000379236.3	-	3	350	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	116					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TAGCTGTCCAGGGGCTGGGTG	0.701																																						ENST00000379236.3																			0				large_intestine(1)|lung(2)|urinary_tract(1)	4						c.(346-348)Ctg>Atg		tumor necrosis factor receptor superfamily, member 4							19.0	21.0	20.0					1																	1148396		2195	4283	6478	SO:0001583	missense	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1148396G>T	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.346C>A	1.37:g.1148396G>T	ENSP00000368538:p.Leu116Met					TNFRSF4_ENST00000453580.1_5'UTR	p.L116M	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	350	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	116					Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37	c.346C>A	CCDS11.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.904|0.904	-0.721412|-0.721412	0.03182|0.03182	.|.	.|.	ENSG00000186827|ENSG00000186827	ENST00000379236|ENST00000453580	T|.	0.46451|.	0.87|.	3.69|3.69	-2.34|-2.34	0.06704|0.06704	.|.	6.660660|.	0.01334|.	U|.	0.011328|.	T|T	0.12603|0.12603	0.0306|0.0306	N|N	0.11255|0.11255	0.115|0.115	0.09310|0.09310	N|N	1|1	B;B|.	0.20780|.	0.048;0.005|.	B;B|.	0.16289|.	0.015;0.004|.	T|T	0.28138|0.28138	-1.0053|-1.0053	10|6	0.44086|0.10377	T|T	0.13|0.69	-0.9823|-0.9823	2.3716|2.3716	0.04331|0.04331	0.1031:0.1568:0.2614:0.4787|0.1031:0.1568:0.2614:0.4787	.|.	61;116|.	B1AME4;P43489|.	.;TNR4_HUMAN|.	M|H	116|61	ENSP00000368538:L116M|.	ENSP00000368538:L116M|ENSP00000390907:P61H	L|P	-|-	1|2	2|0	TNFRSF4|TNFRSF4	1138259|1138259	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.140000|0.140000	0.21249|0.21249	-0.035000|-0.035000	0.12205|0.12205	-0.209000|-0.209000	0.10156|0.10156	-0.509000|-0.509000	0.04479|0.04479	CTG|CCT		0.701	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			3	16	3	16	---	---	---	---
NADK	65220	broad.mit.edu	37	1	1685503	1685503	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:1685503C>A	ENST00000341426.5	-	10	1309	c.1088G>T	c.(1087-1089)gGg>gTg	p.G363V	NADK_ENST00000344463.4_Missense_Mutation_p.G508V|NADK_ENST00000342348.5_Missense_Mutation_p.G331V|NADK_ENST00000341991.3_Missense_Mutation_p.G363V|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000378625.1_Missense_Mutation_p.G508V	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	363				Missing (in Ref. 2; AAG44568). {ECO:0000305}.	ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CAGCTCGACCCCTGCGGGGAC	0.642																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(1522-1524)gGg>gTg		NAD kinase							54.0	64.0	61.0					1																	1685503		2203	4299	6502	SO:0001583	missense	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1685503C>A	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.1088G>T	1.37:g.1685503C>A	ENSP00000341679:p.Gly363Val					NADK_ENST00000341991.3_Missense_Mutation_p.G363V|NADK_ENST00000341426.5_Missense_Mutation_p.G363V|NADK_ENST00000378625.1_Missense_Mutation_p.G508V|NADK_ENST00000342348.5_Missense_Mutation_p.G331V	p.G508V			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	12	1744	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	363					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.1523G>T	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806927	0.70797	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.27	5.27	0.74061	ATP-NAD kinase, PpnK-type, all-beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	T	0.73426	0.3585	M	0.92367	3.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.999;1.0	T	0.80294	-0.1443	10	0.72032	D	0.01	-35.3819	17.8069	0.88604	0.0:1.0:0.0:0.0	.	331;508;363	F5GXR5;Q5QPS4;O95544	.;.;NADK_HUMAN	V	363;363;508;508;331	ENSP00000341679:G363V;ENSP00000344340:G363V;ENSP00000367890:G508V;ENSP00000340925:G508V;ENSP00000339727:G331V	ENSP00000341679:G363V	G	-	2	0	NADK	1675363	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.288000	0.78691	2.630000	0.89119	0.561000	0.74099	GGG		0.642	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		6	135	6	135	---	---	---	---
ERRFI1	54206	broad.mit.edu	37	1	8074380	8074380	+	Silent	SNP	G	G	T	rs369425306		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:8074380G>T	ENST00000377482.5	-	4	502	c.279C>A	c.(277-279)ccC>ccA	p.P93P	ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000469499.1_Missense_Mutation_p.P68T	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	93					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TAAGAAGAGGGGGCAAGCTGG	0.448																																						ENST00000469499.1																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(202-204)Ccc>Acc		ERBB receptor feedback inhibitor 1							134.0	139.0	137.0					1																	8074380		2202	4300	6502	SO:0001819	synonymous_variant	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8074380G>T	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.279C>A	1.37:g.8074380G>T						ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000377482.5_Silent_p.P93P|ERRFI1_ENST00000474874.1_Intron	p.P68T			Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	3	413	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	0					B2RDX9|Q9NTG9|Q9UD05	Missense_Mutation	SNP	ENST00000377482.5	37	c.202C>A	CCDS94.1																																																																																				0.448	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		8	454	8	454	---	---	---	---
TMEM201	199953	broad.mit.edu	37	1	9661280	9661280	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:9661280C>A	ENST00000340381.6	+	5	733	c.724C>A	c.(724-726)Cca>Aca	p.P242T	TMEM201_ENST00000377376.4_Missense_Mutation_p.P242T|TMEM201_ENST00000340305.5_Missense_Mutation_p.P242T	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	242					fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		ACACTTCGCCCCAGGCACCAC	0.687																																						ENST00000340305.5																			0				lung(3)|upper_aerodigestive_tract(1)	4						c.(724-726)Cca>Aca		transmembrane protein 201							56.0	58.0	57.0					1																	9661280		2203	4300	6503	SO:0001583	missense	199953					integral to membrane|nuclear inner membrane		g.chr1:9661280C>A		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.724C>A	1.37:g.9661280C>A	ENSP00000344503:p.Pro242Thr					TMEM201_ENST00000340381.6_Missense_Mutation_p.P242T|TMEM201_ENST00000377376.4_Missense_Mutation_p.P242T	p.P242T	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)	5	733	+	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	242					B9EH90|Q5SNT3	Missense_Mutation	SNP	ENST00000340381.6	37	c.724C>A	CCDS44055.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.741|7.741	0.701380|0.701380	0.15172|0.15172	.|.	.|.	ENSG00000188807|ENSG00000188807	ENST00000416541|ENST00000377376;ENST00000340305;ENST00000340381	.|.	.|.	.|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.228600|0.228600	0.36101|0.36101	N|N	0.002781|0.002781	T|T	0.34424|0.34424	0.0897|0.0897	L|L	0.32530|0.32530	0.975|0.975	0.22292|0.22292	N|N	0.999222|0.999222	.|B;B	.|0.19445	.|0.036;0.035	.|B;B	.|0.17722	.|0.019;0.015	T|T	0.15350|0.15350	-1.0440|-1.0440	6|9	.|0.06494	.|T	.|0.89	-9.9302|-9.9302	15.4399|15.4399	0.75176|0.75176	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|242;242	.|E9PBR6;Q5SNT2-2	.|.;.	H|T	151|242	.|.	.|ENSP00000344772:P242T	P|P	+|+	2|1	0|0	TMEM201|TMEM201	9583867|9583867	0.073000|0.073000	0.21202|0.21202	0.395000|0.395000	0.26283|0.26283	0.005000|0.005000	0.04900|0.04900	2.901000|2.901000	0.48695|0.48695	2.314000|2.314000	0.78098|0.78098	0.563000|0.563000	0.77884|0.77884	CCC|CCA		0.687	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127672.1	NM_001010866		5	73	5	73	---	---	---	---
UBE4B	10277	broad.mit.edu	37	1	10207136	10207136	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:10207136C>A	ENST00000253251.8	+	18	3031	c.2192C>A	c.(2191-2193)cCc>cAc	p.P731H	UBE4B_ENST00000343090.6_Missense_Mutation_p.P860H|UBE4B_ENST00000377157.3_Missense_Mutation_p.P615H					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATCCTGGACCCCGCATATCCC	0.493																																						ENST00000377157.3																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1843-1845)cCc>cAc		ubiquitination factor E4B							182.0	171.0	175.0					1																	10207136		2203	4300	6503	SO:0001583	missense	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10207136C>A	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2192C>A	1.37:g.10207136C>A	ENSP00000253251:p.Pro731His					UBE4B_ENST00000343090.6_Missense_Mutation_p.P860H|UBE4B_ENST00000253251.8_Missense_Mutation_p.P731H	p.P615H	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	18	2905	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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)	860						Missense_Mutation	SNP	ENST00000253251.8	37	c.1844C>A	CCDS110.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961139	0.92791	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.45668	0.89;0.89;0.89	5.68	5.68	0.88126	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	M	0.83483	2.645	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70935	0.956;0.971;0.927	T	0.69292	-0.5183	10	0.46703	T	0.11	-12.6052	19.8593	0.96777	0.0:1.0:0.0:0.0	.	731;860;731	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	H	731;615;860	ENSP00000253251:P731H;ENSP00000366362:P615H;ENSP00000343001:P860H	ENSP00000253251:P731H	P	+	2	0	UBE4B	10129723	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.678000	0.68153	2.700000	0.92200	0.558000	0.71614	CCC		0.493	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		6	292	6	292	---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12024347	12024347	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:12024347G>T	ENST00000196061.4	+	12	1345	c.1318G>T	c.(1318-1320)Ggg>Tgg	p.G440W	PLOD1_ENST00000376369.3_Missense_Mutation_p.G487W	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	440					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.G440W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CATTGTGCAGGGGCGGCGTGT	0.617																																						ENST00000196061.4																			1	Substitution - Missense(1)	p.G440W(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1318-1320)Ggg>Tgg		procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						108.0	113.0	112.0					1																	12024347		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12024347G>T	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1318G>T	1.37:g.12024347G>T	ENSP00000196061:p.Gly440Trp					PLOD1_ENST00000376369.3_Missense_Mutation_p.G487W	p.G440W	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	12	1345	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	440					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1318G>T	CCDS142.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685463	0.47991	.	.	ENSG00000083444	ENST00000376369;ENST00000196061	D;D	0.85411	-1.98;-1.98	5.36	4.45	0.53987	.	0.239876	0.44902	D	0.000414	D	0.86768	0.6012	L	0.37697	1.125	0.50313	D	0.999865	B;D	0.76494	0.193;0.999	B;D	0.67725	0.044;0.953	D	0.86760	0.1966	10	0.62326	D	0.03	.	10.0567	0.42250	0.164:0.0:0.836:0.0	.	487;440	B4DR87;Q02809	.;PLOD1_HUMAN	W	487;440	ENSP00000365548:G487W;ENSP00000196061:G440W	ENSP00000196061:G440W	G	+	1	0	PLOD1	11946934	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.453000	0.60061	1.263000	0.44181	0.655000	0.94253	GGG		0.617	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		7	213	7	213	---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12313858	12313858	+	Missense_Mutation	SNP	G	G	T	rs528997969		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:12313858G>T	ENST00000358136.3	+	7	774	c.644G>T	c.(643-645)gGg>gTg	p.G215V	VPS13D_ENST00000356315.4_Missense_Mutation_p.G215V	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACTTTACTGGGGGATTTGCCT	0.473																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(643-645)gGg>gTg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							202.0	184.0	190.0					1																	12313858		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12313858G>T	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.644G>T	1.37:g.12313858G>T	ENSP00000350854:p.Gly215Val					VPS13D_ENST00000356315.4_Missense_Mutation_p.G215V	p.G215V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	7	774	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	215						Missense_Mutation	SNP	ENST00000358136.3	37	c.644G>T	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844212	0.91197	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.56611	0.45;0.46	5.48	5.48	0.80851	.	0.052237	0.85682	D	0.000000	T	0.70824	0.3268	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66400	-0.5933	10	0.27785	T	0.31	.	18.3654	0.90389	0.0:0.0:1.0:0.0	.	215;215	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	V	215	ENSP00000348666:G215V;ENSP00000350854:G215V	ENSP00000348666:G215V	G	+	2	0	VPS13D	12236445	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.396000	0.90190	2.560000	0.86352	0.650000	0.86243	GGG		0.473	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		7	205	7	205	---	---	---	---
PRAMEF12	390999	broad.mit.edu	37	1	12837551	12837551	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:12837551C>A	ENST00000357726.4	+	3	1288	c.1261C>A	c.(1261-1263)Cag>Aag	p.Q421K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	421					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTATGATGCCCAGGGTGCTCT	0.562																																						ENST00000357726.4																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(1261-1263)Cag>Aag		PRAME family member 12							111.0	121.0	117.0					1																	12837551		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12837551C>A		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.1261C>A	1.37:g.12837551C>A	ENSP00000350358:p.Gln421Lys						p.Q421K	NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	1288	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	421						Missense_Mutation	SNP	ENST00000357726.4	37	c.1261C>A	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	4.096	0.015789	0.07959	.	.	ENSG00000116726	ENST00000357726	T	0.48201	0.82	2.72	0.813	0.18749	.	1.420630	0.04691	N	0.414107	T	0.31796	0.0808	N	0.19112	0.55	0.09310	N	1	B	0.25904	0.137	B	0.27500	0.08	T	0.22103	-1.0226	10	0.28530	T	0.3	.	4.7912	0.13250	0.0:0.6919:0.0:0.3081	.	421	O95522	PRA12_HUMAN	K	421	ENSP00000350358:Q421K	ENSP00000350358:Q421K	Q	+	1	0	PRAMEF12	12760138	0.000000	0.05858	0.000000	0.03702	0.408000	0.30992	-1.064000	0.03461	0.216000	0.20781	0.195000	0.17529	CAG		0.562	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760		5	170	5	170	---	---	---	---
FBXO42	54455	broad.mit.edu	37	1	16577701	16577701	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:16577701G>T	ENST00000375592.3	-	10	1834	c.1618C>A	c.(1618-1620)Cca>Aca	p.P540T		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	540										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACGTGAGGTGGGGTATGCACA	0.587																																						ENST00000375592.3																			0				autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(1618-1620)Cca>Aca		F-box protein 42							95.0	68.0	77.0					1																	16577701		2203	4300	6503	SO:0001583	missense	54455							g.chr1:16577701G>T	BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1618C>A	1.37:g.16577701G>T	ENSP00000364742:p.Pro540Thr						p.P540T	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)	10	1834	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	540					B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	ENST00000375592.3	37	c.1618C>A	CCDS30613.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847305	0.71603	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.70282	3.26;-0.47;-0.47	5.51	5.51	0.81932	.	0.050466	0.85682	D	0.000000	T	0.75852	0.3906	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75216	-0.3396	10	0.39692	T	0.17	-11.0311	18.7669	0.91876	0.0:0.0:1.0:0.0	.	540	Q6P3S6	FBX42_HUMAN	T	540;258;258	ENSP00000364742:P540T;ENSP00000415663:P258T;ENSP00000412416:P258T	ENSP00000364742:P540T	P	-	1	0	FBXO42	16450288	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.874000	0.92363	2.763000	0.94921	0.650000	0.86243	CCA		0.587	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006285.1			5	171	5	171	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16907919	16907919	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:16907919G>T	ENST00000430580.2	-	15	2262	c.1375C>A	c.(1375-1377)Ccc>Acc	p.P459T	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	459	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTTACCTGGGGGCAGATGAT	0.433																																						ENST00000430580.2																			0											c.(1375-1377)Ccc>Acc		neuroblastoma breakpoint family, member 1							266.0	296.0	285.0					1																	16907919		1493	2696	4189	SO:0001583	missense	55672					cytoplasm		g.chr1:16907919G>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1375C>A	1.37:g.16907919G>T	ENSP00000474456:p.Pro459Thr						p.P459T	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	15	2262	-			459			NBPF 2.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.1375C>A																																																																																					0.433	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		13	1160	13	1160	---	---	---	---
KLHDC7A	127707	broad.mit.edu	37	1	18808274	18808274	+	Missense_Mutation	SNP	C	C	A	rs372154346		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:18808274C>A	ENST00000400664.1	+	1	851	c.799C>A	c.(799-801)Cgc>Agc	p.R267S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	267						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCATAGCCCGCGTCCGAAT	0.592																																						ENST00000400664.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(799-801)Cgc>Agc		kelch domain containing 7A							73.0	78.0	76.0					1																	18808274		2203	4300	6503	SO:0001583	missense	127707					integral to membrane		g.chr1:18808274C>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.799C>A	1.37:g.18808274C>A	ENSP00000383505:p.Arg267Ser						p.R267S	NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	851	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	267					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.799C>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962450	0.34659	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.75154	-0.91	5.02	1.89	0.25635	.	0.287492	0.26304	U	0.025153	T	0.54983	0.1892	L	0.27053	0.805	0.26216	N	0.979222	D;P	0.54207	0.965;0.906	B;B	0.41764	0.366;0.313	T	0.55211	-0.8176	10	0.87932	D	0	.	2.8062	0.05428	0.1526:0.5334:0.1338:0.1802	.	204;267	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	S	267;204	ENSP00000383505:R267S	ENSP00000383505:R267S	R	+	1	0	KLHDC7A	18680861	0.183000	0.23186	0.593000	0.28771	0.146000	0.21551	0.910000	0.28571	1.102000	0.41551	0.313000	0.20887	CGC		0.592	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		4	167	4	167	---	---	---	---
PQLC2	54896	broad.mit.edu	37	1	19644262	19644262	+	Missense_Mutation	SNP	C	C	A	rs141141870		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:19644262C>A	ENST00000375153.3	+	2	731	c.91C>A	c.(91-93)Cag>Aag	p.Q31K	PQLC2_ENST00000375155.3_Missense_Mutation_p.Q31K|RN7SL85P_ENST00000583604.1_RNA|PQLC2_ENST00000400548.2_Intron	NM_001040125.1	NP_001035214.1	Q6ZP29	LAAT1_HUMAN	PQ loop repeat containing 2	31					amino acid homeostasis (GO:0080144)|arginine transport (GO:0015809)|lysine transport (GO:0015819)	integral component of organelle membrane (GO:0031301)|lysosomal membrane (GO:0005765)	arginine transmembrane transporter activity (GO:0015181)|basic amino acid transmembrane transporter activity (GO:0015174)|L-lysine transmembrane transporter activity (GO:0015189)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGAATGTGCCCAGGACGGCTG	0.592																																						ENST00000375153.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10						c.(91-93)Cag>Aag		PQ loop repeat containing 2							266.0	261.0	262.0					1																	19644262		2203	4300	6503	SO:0001583	missense	54896					integral to membrane		g.chr1:19644262C>A	BC015324	CCDS195.2, CCDS30618.1	1p36.13	2013-10-11			ENSG00000040487	ENSG00000040487			26001	protein-coding gene	gene with protein product		614760				23169667	Standard	XM_005245915		Approved	FLJ20320	uc001bby.3	Q6ZP29	OTTHUMG00000002521	ENST00000375153.3:c.91C>A	1.37:g.19644262C>A	ENSP00000364295:p.Gln31Lys					PQLC2_ENST00000400548.2_Intron|PQLC2_ENST00000375155.3_Missense_Mutation_p.Q31K	p.Q31K	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	731	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	31					B3KWQ5|Q6ZMJ3|Q6ZP27|Q9NXC7	Missense_Mutation	SNP	ENST00000375153.3	37	c.91C>A	CCDS195.2	.	.	.	.	.	.	.	.	.	.	C	8.155	0.788332	0.16258	.	.	ENSG00000040487	ENST00000375155;ENST00000375153	T;T	0.41758	0.99;0.99	5.5	-0.017	0.13970	.	0.486350	0.23055	N	0.052444	T	0.28863	0.0716	M	0.71581	2.175	0.80722	D	1	B	0.13594	0.008	B	0.14578	0.011	T	0.27157	-1.0082	10	0.05959	T	0.93	-0.1806	1.6319	0.02734	0.1264:0.3664:0.2688:0.2384	.	31	Q6ZP29	PQLC2_HUMAN	K	31	ENSP00000364297:Q31K;ENSP00000364295:Q31K	ENSP00000364295:Q31K	Q	+	1	0	PQLC2	19516849	0.133000	0.22466	0.940000	0.37924	0.885000	0.51271	0.313000	0.19415	-0.262000	0.09392	0.478000	0.44815	CAG		0.592	PQLC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007255.1	NM_017765		8	553	8	553	---	---	---	---
KDM1A	23028	broad.mit.edu	37	1	23408760	23408760	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:23408760G>T	ENST00000356634.3	+	18	2423	c.2274G>T	c.(2272-2274)cgG>cgT	p.R758R	KDM1A_ENST00000542151.1_Silent_p.R782R|KDM1A_ENST00000400181.4_Silent_p.R782R|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	758	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCTGGGCTCGGGGCTCTTATT	0.498																																						ENST00000400181.4																			0				breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(2344-2346)cgG>cgT		lysine (K)-specific demethylase 1A							97.0	87.0	90.0					1																	23408760		2203	4300	6503	SO:0001819	synonymous_variant	23028				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	g.chr1:23408760G>T	AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.2274G>T	1.37:g.23408760G>T						KDM1A_ENST00000356634.3_Silent_p.R758R|KDM1A_ENST00000542151.1_Silent_p.R782R|RP1-184J9.2_ENST00000427154.1_RNA	p.R782R	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN			20	2450	+			758			Demethylase activity.		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	ENST00000356634.3	37	c.2346G>T	CCDS30627.1																																																																																				0.498	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013		5	100	5	100	---	---	---	---
HNRNPR	10236	broad.mit.edu	37	1	23650124	23650124	+	Silent	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:23650124T>C	ENST00000374612.1	-	6	723	c.600A>G	c.(598-600)ccA>ccG	p.P200P	HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000478691.1_Silent_p.P99P|HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000374616.3_Silent_p.P200P	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	200	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P200P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GACCGGACAGTGGATCCATCA	0.443																																						ENST00000478691.1																			2	Substitution - coding silent(2)	p.P200P(2)	prostate(2)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(295-297)ccA>ccG		heterogeneous nuclear ribonucleoprotein R							114.0	115.0	114.0					1																	23650124		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23650124T>C	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.600A>G	1.37:g.23650124T>C						HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000374612.1_Silent_p.P200P|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000374616.3_Silent_p.P200P	p.P99P	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	5	568	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	200			Asp/Glu-rich (acidic).		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.297A>G	CCDS232.1																																																																																				0.443	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		10	197	10	197	---	---	---	---
HMGCL	3155	broad.mit.edu	37	1	24129055	24129055	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:24129055C>A	ENST00000374490.3	-	9	920		c.e9-1		HMGCL_ENST00000509389.1_5'Flank|HMGCL_ENST00000436439.2_Splice_Site|HMGCL_ENST00000374483.4_Splice_Site|GALE_ENST00000374497.3_5'Flank|GALE_ENST00000470383.1_5'Flank	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase						acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GATTCACACCCTTTGAGAAAC	0.448																																						ENST00000374483.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.e10-1		3-hydroxymethyl-3-methylglutaryl-CoA lyase							72.0	70.0	71.0					1																	24129055		2203	4300	6503	SO:0001630	splice_region_variant	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24129055C>A	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.877-1G>T	1.37:g.24129055C>A						HMGCL_ENST00000374490.3_Splice_Site|HMGCL_ENST00000436439.2_Splice_Site				P35914	HMGCL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	10	1473	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)						B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Splice_Site	SNP	ENST00000374490.3	37		CCDS243.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164638	0.57476	.	.	ENSG00000117305	ENST00000374490;ENST00000436439;ENST00000374483;ENST00000543166;ENST00000235958	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4859	0.87688	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HMGCL	24001642	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	7.630000	0.83225	2.212000	0.71576	0.462000	0.41574	.		0.448	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191	Intron	4	96	4	96	---	---	---	---
UBXN11	91544	broad.mit.edu	37	1	26609170	26609170	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:26609170C>A	ENST00000374222.1	-	15	1726	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V	UBXN11_ENST00000314675.7_Missense_Mutation_p.G301V|UBXN11_ENST00000374217.2_Missense_Mutation_p.G388V|UBXN11_ENST00000374221.3_Missense_Mutation_p.G421V|UBXN11_ENST00000374223.1_Missense_Mutation_p.G178V|UBXN11_ENST00000357089.4_Missense_Mutation_p.G388V			Q5T124	UBX11_HUMAN	UBX domain protein 11	421	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCGCACGTCCCCAATGGTGTT	0.642																																						ENST00000314675.7																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						c.(901-903)gGg>gTg		UBX domain protein 11							71.0	80.0	77.0					1																	26609170		2083	4220	6303	SO:0001583	missense	91544					cytoplasm|cytoskeleton		g.chr1:26609170C>A	AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1262G>T	1.37:g.26609170C>A	ENSP00000363339:p.Gly421Val					UBXN11_ENST00000374223.1_Missense_Mutation_p.G178V|UBXN11_ENST00000374222.1_Missense_Mutation_p.G421V|UBXN11_ENST00000374217.2_Missense_Mutation_p.G388V|UBXN11_ENST00000357089.4_Missense_Mutation_p.G388V|UBXN11_ENST00000374221.3_Missense_Mutation_p.G421V	p.G301V	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN			10	981	-			421					D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	ENST00000374222.1	37	c.902G>T	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.535613	0.64972	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88	4.84	4.84	0.62591	UBX (2);	0.057933	0.64402	D	0.000002	T	0.64994	0.2649	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.989	T	0.68861	-0.5297	10	0.59425	D	0.04	-25.1019	16.1249	0.81386	0.0:1.0:0.0:0.0	.	388;383;301;421	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	V	301;178;388;421;421;388	ENSP00000324721:G301V;ENSP00000363340:G178V;ENSP00000349601:G388V;ENSP00000363338:G421V;ENSP00000363339:G421V;ENSP00000363334:G388V	ENSP00000324721:G301V	G	-	2	0	UBXN11	26481757	1.000000	0.71417	0.053000	0.19242	0.331000	0.28603	6.258000	0.72487	2.227000	0.72691	0.561000	0.74099	GGG		0.642	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1	NM_145345		5	129	5	129	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27058085	27058085	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:27058085C>A	ENST00000324856.7	+	3	2164	c.1793C>A	c.(1792-1794)cCt>cAt	p.P598H	ARID1A_ENST00000374152.2_Missense_Mutation_p.P215H|ARID1A_ENST00000457599.2_Missense_Mutation_p.P598H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	598					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGCGCTTCCCTCCACCGCAG	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(1792-1794)cCt>cAt		AT rich interactive domain 1A (SWI-like)							92.0	88.0	89.0					1																	27058085		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27058085C>A	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1793C>A	1.37:g.27058085C>A	ENSP00000320485:p.Pro598His					ARID1A_ENST00000374152.2_Missense_Mutation_p.P215H|ARID1A_ENST00000457599.2_Missense_Mutation_p.P598H	p.P598H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	3	2164	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	598					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.1793C>A	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851328	0.51270	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02837	4.4;4.14;4.2	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.13756	0.0333	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.00169	-1.1962	10	0.52906	T	0.07	-5.8047	19.1625	0.93539	0.0:1.0:0.0:0.0	.	598;598;252	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	H	598;598;215	ENSP00000320485:P598H;ENSP00000387636:P598H;ENSP00000363267:P215H	ENSP00000320485:P598H	P	+	2	0	ARID1A	26930672	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.721000	0.61951	2.755000	0.94549	0.563000	0.77884	CCT		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		6	154	6	154	---	---	---	---
SLC9A1	6548	broad.mit.edu	37	1	27427032	27427032	+	Missense_Mutation	SNP	C	C	A	rs138292060		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:27427032C>A	ENST00000263980.3	-	12	2789	c.2214G>T	c.(2212-2214)aaG>aaT	p.K738N	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Missense_Mutation_p.K399N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	738					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AGACTTTGCCCTTCAGCTCTT	0.602																																						ENST00000263980.3																			0				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2212-2214)aaG>aaT		solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	Amiloride(DB00594)						238.0	223.0	228.0					1																	27427032		2203	4300	6503	SO:0001583	missense	6548				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	g.chr1:27427032C>A	M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.2214G>T	1.37:g.27427032C>A	ENSP00000263980:p.Lys738Asn					SLC9A1_ENST00000545949.1_Missense_Mutation_p.K399N	p.K738N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	12	2789	-			738					B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	ENST00000263980.3	37	c.2214G>T	CCDS295.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323376	0.24080	.	.	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949;ENST00000447808	T;T	0.52754	0.65;1.25	4.07	2.19	0.27852	.	0.000000	0.51477	D	0.000083	T	0.37461	0.1004	L	0.51422	1.61	0.46396	D	0.999022	B	0.23185	0.081	B	0.15052	0.012	T	0.17258	-1.0375	10	0.44086	T	0.13	.	8.2289	0.31587	0.0:0.8109:0.0:0.1891	.	738	P19634	SL9A1_HUMAN	N	738;242;399;159	ENSP00000263980:K738N;ENSP00000445520:K399N	ENSP00000263980:K738N	K	-	3	2	SLC9A1	27299619	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	1.870000	0.39529	0.498000	0.27948	-0.237000	0.12165	AAG		0.602	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012336.2	NM_003047		7	462	7	462	---	---	---	---
PTAFR	5724	broad.mit.edu	37	1	28476664	28476664	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:28476664G>T	ENST00000373857.3	-	2	1503	c.869C>A	c.(868-870)cCt>cAt	p.P290H	PTAFR_ENST00000539896.1_Missense_Mutation_p.P290H|PTAFR_ENST00000305392.3_Missense_Mutation_p.P290H	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	290					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GTAGATAACAGGGTCTAAGAC	0.532																																						ENST00000373857.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15						c.(868-870)cCt>cAt		platelet-activating factor receptor							128.0	115.0	119.0					1																	28476664		2203	4300	6503	SO:0001583	missense	5724				chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	g.chr1:28476664G>T	BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.869C>A	1.37:g.28476664G>T	ENSP00000362965:p.Pro290His					PTAFR_ENST00000539896.1_Missense_Mutation_p.P290H|PTAFR_ENST00000305392.3_Missense_Mutation_p.P290H	p.P290H	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)	2	1503	-		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)	290					A3KMC8|A8K2H5	Missense_Mutation	SNP	ENST00000373857.3	37	c.869C>A	CCDS318.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173393	0.78452	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	D;D;D	0.98807	-5.15;-5.15;-5.15	5.38	5.38	0.77491	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99372	0.9779	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98837	1.0753	10	0.87932	D	0	.	19.1385	0.93438	0.0:0.0:1.0:0.0	.	290	P25105	PTAFR_HUMAN	H	290	ENSP00000362965:P290H;ENSP00000442658:P290H;ENSP00000301974:P290H	ENSP00000301974:P290H	P	-	2	0	PTAFR	28349251	1.000000	0.71417	0.999000	0.59377	0.709000	0.40893	9.869000	0.99810	2.525000	0.85131	0.563000	0.77884	CCT		0.532	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011258.1	NM_000952		4	101	4	101	---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34286096	34286096	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:34286096C>A	ENST00000373381.4	-	8	1349	c.1173G>T	c.(1171-1173)agG>agT	p.R391S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	351	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCTTTTGCCCCTTTCGGGTA	0.463																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(1171-1173)agG>agT		CUB and Sushi multiple domains 2							191.0	188.0	189.0					1																	34286096		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34286096C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1173G>T	1.37:g.34286096C>A	ENSP00000362479:p.Arg391Ser						p.R391S	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN			8	1349	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	351			Sushi 2.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1173G>T		.	.	.	.	.	.	.	.	.	.	C	15.57	2.872343	0.51695	.	.	ENSG00000121904	ENST00000373381	T	0.63096	-0.02	5.81	5.81	0.92471	Complement control module (2);Sushi/SCR/CCP (3);	0.058627	0.64402	D	0.000003	T	0.44644	0.1303	N	0.17379	0.485	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.10450	0.005;0.005	T	0.40384	-0.9566	10	0.59425	D	0.04	.	8.5305	0.33331	0.0:0.8377:0.0:0.1623	.	351;391	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	391	ENSP00000362479:R391S	ENSP00000241312:R351S	R	-	3	2	CSMD2	34058683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.308000	0.43690	2.746000	0.94184	0.655000	0.94253	AGG		0.463	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		7	421	7	421	---	---	---	---
TEKT2	27285	broad.mit.edu	37	1	36552430	36552430	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:36552430C>A	ENST00000207457.3	+	5	741	c.614C>A	c.(613-615)cCc>cAc	p.P205H	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	205					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGGTTGACCCCACACGTGTA	0.552																																						ENST00000207457.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13						c.(613-615)cCc>cAc		tektin 2 (testicular)							152.0	129.0	137.0					1																	36552430		2203	4300	6503	SO:0001583	missense	27285				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus		g.chr1:36552430C>A	AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.614C>A	1.37:g.36552430C>A	ENSP00000207457:p.Pro205His						p.P205H	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN			5	741	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	205					A6NIS6|O60638	Missense_Mutation	SNP	ENST00000207457.3	37	c.614C>A	CCDS401.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310416	0.60414	.	.	ENSG00000092850	ENST00000207457	T	0.02552	4.25	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.17662	0.0424	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.14476	-1.0471	10	0.16896	T	0.51	.	19.6991	0.96045	0.0:1.0:0.0:0.0	.	205	Q9UIF3	TEKT2_HUMAN	H	205	ENSP00000207457:P205H	ENSP00000207457:P205H	P	+	2	0	TEKT2	36325017	1.000000	0.71417	0.844000	0.33320	0.201000	0.24016	7.696000	0.84270	2.654000	0.90174	0.563000	0.77884	CCC		0.552	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020200.1	NM_014466		5	113	5	113	---	---	---	---
MANEAL	149175	broad.mit.edu	37	1	38265330	38265330	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:38265330C>A	ENST00000373045.6	+	4	1210	c.829C>A	c.(829-831)Cct>Act	p.P277T	MANEAL_ENST00000525897.1_Missense_Mutation_p.P83T|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.P55T|MANEAL_ENST00000397631.3_Intron	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	277						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTGACGTCCCCTGAGGCCTG	0.572																																						ENST00000373045.6																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7						c.(829-831)Cct>Act		mannosidase, endo-alpha-like							106.0	107.0	107.0					1																	38265330		2203	4300	6503	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265330C>A	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.829C>A	1.37:g.38265330C>A	ENSP00000362136:p.Pro277Thr					MANEAL_ENST00000397631.3_Intron|MANEAL_ENST00000329006.5_Missense_Mutation_p.P55T|MANEAL_ENST00000525897.1_Missense_Mutation_p.P83T	p.P277T	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN			4	1210	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	277					Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.829C>A	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361249	0.82353	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	D;D;D	0.91843	-2.92;-2.92;-2.92	5.49	5.49	0.81192	.	0.049276	0.85682	D	0.000000	D	0.94785	0.8316	M	0.84846	2.72	0.54753	D	0.999988	P;P	0.46952	0.617;0.887	B;P	0.52109	0.178;0.69	D	0.94922	0.8074	10	0.56958	D	0.05	-8.1607	14.4639	0.67470	0.0:0.852:0.148:0.0	.	55;277	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	T	277;83;55	ENSP00000362136:P277T;ENSP00000437312:P83T;ENSP00000328770:P55T	ENSP00000328770:P55T	P	+	1	0	MANEAL	38037917	0.991000	0.36638	0.984000	0.44739	0.993000	0.82548	3.057000	0.49931	2.593000	0.87608	0.563000	0.77884	CCT		0.572	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		7	241	7	241	---	---	---	---
INPP5B	3633	broad.mit.edu	37	1	38357094	38357094	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:38357094C>A	ENST00000373026.1	-	7	805	c.805G>T	c.(805-807)Ggg>Tgg	p.G269W	INPP5B_ENST00000373027.1_Missense_Mutation_p.G25W|INPP5B_ENST00000458109.2_5'Flank|INPP5B_ENST00000373024.3_Missense_Mutation_p.G189W|INPP5B_ENST00000373023.2_Missense_Mutation_p.G269W			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	269					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)				ACTCCCTTCCCATTTGGTCTC	0.448																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(805-807)Ggg>Tgg		inositol polyphosphate-5-phosphatase, 75kDa							171.0	173.0	172.0					1																	38357094		1893	4106	5999	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.chr1:38357094C>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.805G>T	1.37:g.38357094C>A	ENSP00000362117:p.Gly269Trp					INPP5B_ENST00000373027.1_Missense_Mutation_p.G25W|INPP5B_ENST00000373026.1_Missense_Mutation_p.G269W|INPP5B_ENST00000373024.3_Missense_Mutation_p.G189W	p.G269W	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			8	898	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	269					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.805G>T		.	.	.	.	.	.	.	.	.	.	C	13.37	2.217314	0.39201	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.93659	-3.26;-3.13;-3.13;-3.12	5.38	4.47	0.54385	.	903.776000	0.00166	N	0.000000	D	0.96377	0.8818	M	0.65498	2.005	0.80722	D	1	D;D	0.63880	0.992;0.993	P;D	0.67231	0.671;0.95	D	0.86646	0.1895	10	0.49607	T	0.09	.	10.3144	0.43727	0.0:0.9087:0.0:0.0913	.	269;189	P32019;P32019-2	I5P2_HUMAN;.	W	25;269;269;269;189	ENSP00000362118:G25W;ENSP00000362114:G269W;ENSP00000362117:G269W;ENSP00000362115:G189W	ENSP00000362114:G269W	G	-	1	0	INPP5B	38129681	1.000000	0.71417	0.746000	0.31095	0.118000	0.20060	1.497000	0.35649	1.404000	0.46819	0.650000	0.86243	GGG		0.448	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		7	293	7	293	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39768669	39768669	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:39768669C>A	ENST00000372915.3	+	22	2810	c.2723C>A	c.(2722-2724)cCc>cAc	p.P908H	MACF1_ENST00000539005.1_Missense_Mutation_p.P908H|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000564288.1_Missense_Mutation_p.P903H|MACF1_ENST00000317713.7_Missense_Mutation_p.P908H|MACF1_ENST00000545844.1_Missense_Mutation_p.P908H|MACF1_ENST00000567887.1_Missense_Mutation_p.P940H|MACF1_ENST00000361689.2_Missense_Mutation_p.P908H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	908	SH3.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGATCAGCCCCACAGGGAAC	0.473																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(2707-2709)cCc>cAc		microtubule-actin crosslinking factor 1							102.0	87.0	92.0					1																	39768669		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39768669C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.2723C>A	1.37:g.39768669C>A	ENSP00000362006:p.Pro908His					MACF1_ENST00000539005.1_Missense_Mutation_p.P908H|MACF1_ENST00000317713.7_Missense_Mutation_p.P908H|MACF1_ENST00000545844.1_Missense_Mutation_p.P908H|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.P908H|MACF1_ENST00000567887.1_Missense_Mutation_p.P940H|MACF1_ENST00000372915.3_Missense_Mutation_p.P908H	p.P903H			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		23	3485	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	908			SH3.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.2708C>A		.	.	.	.	.	.	.	.	.	.	C	29.5	5.008565	0.93346	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262	T;T;T;T;T;T;T	0.77489	-0.2;-1.1;-0.2;-0.2;-0.2;-0.2;-0.2	5.57	5.57	0.84162	.	.	.	.	.	D	0.89217	0.6652	M	0.81497	2.545	0.80722	D	1	P;D	0.89917	0.93;1.0	P;D	0.87578	0.689;0.998	D	0.90052	0.4150	9	0.87932	D	0	.	19.555	0.95342	0.0:1.0:0.0:0.0	.	908;873	F8W8Q1;Q9UPN3-3	.;.	H	908;908;908;908;908;866;1057	ENSP00000439537:P908H;ENSP00000362006:P908H;ENSP00000354573:P908H;ENSP00000313438:P908H;ENSP00000444364:P908H;ENSP00000435070:P866H;ENSP00000437059:P1057H	ENSP00000313438:P908H	P	+	2	0	MACF1	39541256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.640000	0.89533	0.655000	0.94253	CCC		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	86	5	86	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39910390	39910390	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:39910390G>T	ENST00000372915.3	+	79	19272	c.19185G>T	c.(19183-19185)aaG>aaT	p.K6395N	MACF1_ENST00000539005.1_Missense_Mutation_p.K4307N|MACF1_ENST00000564288.1_Missense_Mutation_p.K6496N|MACF1_ENST00000317713.7_Missense_Mutation_p.K4437N|MACF1_ENST00000545844.1_Missense_Mutation_p.K4437N|MACF1_ENST00000289893.4_Missense_Mutation_p.K4939N|MACF1_ENST00000567887.1_Missense_Mutation_p.K6533N|MACF1_ENST00000361689.2_Missense_Mutation_p.K4437N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6395					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TACTTGACAAGGGCAGACTCA	0.458																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(19486-19488)aaG>aaT		microtubule-actin crosslinking factor 1							96.0	89.0	91.0					1																	39910390		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39910390G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19185G>T	1.37:g.39910390G>T	ENSP00000362006:p.Lys6395Asn					MACF1_ENST00000539005.1_Missense_Mutation_p.K4307N|MACF1_ENST00000317713.7_Missense_Mutation_p.K4437N|MACF1_ENST00000545844.1_Missense_Mutation_p.K4437N|MACF1_ENST00000361689.2_Missense_Mutation_p.K4437N|MACF1_ENST00000567887.1_Missense_Mutation_p.K6533N|MACF1_ENST00000372915.3_Missense_Mutation_p.K6395N|MACF1_ENST00000289893.4_Missense_Mutation_p.K4939N	p.K6496N			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		80	20265	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6505					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.19488G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.29|19.29	3.798608|3.798608	0.70567|0.70567	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.50277	.|0.75;0.75;0.75;0.75;0.75;0.75	6.16|6.16	2.3|2.3	0.28687|0.28687	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	T|T	0.57961|0.57961	0.2089|0.2089	L|L	0.50919|0.50919	1.6|1.6	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.996;1.0	.|P;D	.|0.72982	.|0.877;0.979	T|T	0.55636|0.55636	-0.8110|-0.8110	5|10	.|0.72032	.|D	.|0.01	.|.	9.3292|9.3292	0.38012|0.38012	0.3885:0.0:0.6115:0.0|0.3885:0.0:0.6115:0.0	.|.	.|6395;4437	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	W|N	3441|4437;6395;4437;4437;4307;4939	.|ENSP00000439537:K4437N;ENSP00000362006:K6395N;ENSP00000354573:K4437N;ENSP00000313438:K4437N;ENSP00000444364:K4307N;ENSP00000289893:K4939N	.|ENSP00000289893:K4939N	G|K	+|+	1|3	0|2	MACF1|MACF1	39682977|39682977	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.789000|0.789000	0.26886|0.26886	0.190000|0.190000	0.20209|0.20209	0.650000|0.650000	0.86243|0.86243	GGG|AAG		0.458	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	112	5	112	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39927561	39927561	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:39927561C>A	ENST00000372915.3	+	92	21314	c.21227C>A	c.(21226-21228)cCc>cAc	p.P7076H	MACF1_ENST00000539005.1_Missense_Mutation_p.P4988H|MACF1_ENST00000564288.1_Missense_Mutation_p.P7177H|MACF1_ENST00000317713.7_Missense_Mutation_p.P5118H|MACF1_ENST00000545844.1_Missense_Mutation_p.P5118H|MACF1_ENST00000289893.4_Missense_Mutation_p.P5620H|MACF1_ENST00000567887.1_Missense_Mutation_p.P7214H|MACF1_ENST00000361689.2_Missense_Mutation_p.P5118H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7076	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAGTTCCCCACCACCAAG	0.378																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(21529-21531)cCc>cAc		microtubule-actin crosslinking factor 1							156.0	156.0	156.0					1																	39927561		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39927561C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21227C>A	1.37:g.39927561C>A	ENSP00000362006:p.Pro7076His					MACF1_ENST00000539005.1_Missense_Mutation_p.P4988H|MACF1_ENST00000317713.7_Missense_Mutation_p.P5118H|MACF1_ENST00000545844.1_Missense_Mutation_p.P5118H|MACF1_ENST00000361689.2_Missense_Mutation_p.P5118H|MACF1_ENST00000567887.1_Missense_Mutation_p.P7214H|MACF1_ENST00000372915.3_Missense_Mutation_p.P7076H|MACF1_ENST00000289893.4_Missense_Mutation_p.P5620H	p.P7177H			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		93	22307	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7076			C-terminal tail (By similarity).|GAR.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.21530C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	30|30	5.055605|5.055605	0.93793|0.93793	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000360115;ENST00000442046	T;T;T;T;T;T|T;T	0.72167|0.72051	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63|-0.62;3.13	5.91|5.91	5.91|5.91	0.95273|0.95273	EF-hand-like domain (1);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000007|0.000007	T|T	0.79233|0.79233	0.4411|0.4411	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	0.999;1.0|.	T|T	0.75010|0.75010	-0.3468|-0.3468	9|7	.|.	.|.	.|.	.|.	20.2985|20.2985	0.98592|0.98592	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	7076;5118|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	H|T	5118;7076;5118;5118;4988;5620|225;19	ENSP00000439537:P5118H;ENSP00000362006:P7076H;ENSP00000354573:P5118H;ENSP00000313438:P5118H;ENSP00000444364:P4988H;ENSP00000289893:P5620H|ENSP00000353231:P225T;ENSP00000407776:P19T	.|.	P|P	+|+	2|1	0|0	MACF1|MACF1	39700148|39700148	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.974000|0.974000	0.67602|0.67602	7.818000|7.818000	0.86416|0.86416	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.378	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		6	387	6	387	---	---	---	---
RLF	6018	broad.mit.edu	37	1	40688302	40688302	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:40688302G>T	ENST00000372771.4	+	6	894	c.867G>T	c.(865-867)gaG>gaT	p.E289D		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	289					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-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;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TGGAATCTGAGGGGCAGGATA	0.373																																						ENST00000372771.4																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(865-867)gaG>gaT		rearranged L-myc fusion							161.0	143.0	149.0					1																	40688302		2203	4300	6503	SO:0001583	missense	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40688302G>T		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.867G>T	1.37:g.40688302G>T	ENSP00000361857:p.Glu289Asp						p.E289D	NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		6	894	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	289					Q14CQ1|Q9NU60	Missense_Mutation	SNP	ENST00000372771.4	37	c.867G>T	CCDS448.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200870	0.79015	.	.	ENSG00000117000	ENST00000372771	T	0.20069	2.1	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	L	0.52206	1.635	0.49798	D	0.999828	D	0.76494	0.999	D	0.76071	0.987	T	0.02404	-1.1164	10	0.38643	T	0.18	-12.8371	12.9977	0.58657	0.0737:0.0:0.9263:0.0	.	289	Q13129	RLF_HUMAN	D	289	ENSP00000361857:E289D	ENSP00000361857:E289D	E	+	3	2	RLF	40460889	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.363000	0.44178	2.663000	0.90544	0.655000	0.94253	GAG		0.373	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	NM_012421		6	251	6	251	---	---	---	---
ZFP69B	65243	broad.mit.edu	37	1	40928275	40928275	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:40928275G>T	ENST00000411995.2	+	6	994	c.619G>T	c.(619-621)Ggg>Tgg	p.G207W	RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000484445.1_3'UTR|ZFP69B_ENST00000361584.3_Missense_Mutation_p.G105W	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	207					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)										AATGGGTAAGGGGCAAATCCC	0.403																																						ENST00000411995.2																			0											c.(619-621)Ggg>Tgg		ZFP69 zinc finger protein B							121.0	131.0	128.0					1																	40928275		2203	4300	6503	SO:0001583	missense	65243							g.chr1:40928275G>T	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.619G>T	1.37:g.40928275G>T	ENSP00000399664:p.Gly207Trp					ZFP69B_ENST00000361584.3_Missense_Mutation_p.G105W|ZFP69B_ENST00000484445.1_3'UTR	p.G207W	NM_023070.2	NP_075558.2					6	994	+								Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.619G>T	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	6.870	0.529988	0.13127	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.09073	3.49;3.02	3.32	-0.644	0.11479	.	.	.	.	.	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	D	0.56968	0.978	P	0.62885	0.908	T	0.33979	-0.9847	9	0.72032	D	0.01	.	7.0908	0.25283	0.5789:0.0:0.4211:0.0	.	207	Q9UJL9	ZN643_HUMAN	W	138;207;105	ENSP00000399664:G207W;ENSP00000354547:G105W	ENSP00000354547:G105W	G	+	1	0	ZNF643	40700862	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.546000	0.06062	-0.125000	0.11703	-0.196000	0.12772	GGG		0.403	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		6	310	6	310	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42050098	42050098	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:42050098G>T	ENST00000372583.1	-	4	1256	c.371C>A	c.(370-372)cCc>cAc	p.P124H	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P124H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P124H|HIVEP3_ENST00000372584.1_Missense_Mutation_p.P124H	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	124					positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGTCTCATGGGGTCAACCAG	0.607																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(370-372)cCc>cAc		human immunodeficiency virus type I enhancer binding protein 3							105.0	110.0	108.0					1																	42050098		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42050098G>T	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.371C>A	1.37:g.42050098G>T	ENSP00000361664:p.Pro124His					HIVEP3_ENST00000429157.2_Missense_Mutation_p.P124H|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P124H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P124H	p.P124H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	1385	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	124					A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.371C>A	CCDS463.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771454	0.49680	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.06294	3.32;3.32;3.32;3.32	4.55	4.55	0.56014	.	0.000000	0.49305	D	0.000157	T	0.10637	0.0260	L	0.27053	0.805	0.42153	D	0.991561	P;P	0.46277	0.875;0.803	P;P	0.54431	0.752;0.569	T	0.41698	-0.9494	10	0.17832	T	0.49	-11.3002	17.0766	0.86588	0.0:0.0:1.0:0.0	.	124;124	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	H	124	ENSP00000361665:P124H;ENSP00000361664:P124H;ENSP00000247584:P124H;ENSP00000410828:P124H	ENSP00000247584:P124H	P	-	2	0	HIVEP3	41822685	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.192000	0.50989	2.341000	0.79615	0.563000	0.77884	CCC		0.607	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		6	241	6	241	---	---	---	---
ST3GAL3	6487	broad.mit.edu	37	1	44386558	44386558	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:44386558C>A	ENST00000361392.4	+	11	1173	c.996C>A	c.(994-996)ccC>ccA	p.P332P	ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000372375.2_Silent_p.P386P|ST3GAL3_ENST00000372368.2_Silent_p.P386P|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000262915.3_Silent_p.P401P|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000332628.6_Silent_p.P301P|ST3GAL3_ENST00000361746.4_Silent_p.P401P|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000351035.3_Silent_p.P370P|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000372372.2_Silent_p.P370P|ST3GAL3_ENST00000372369.1_Silent_p.P302P|ST3GAL3_ENST00000372374.2_Silent_p.P301P|ST3GAL3_ENST00000347631.2_Silent_p.P347P|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000361400.4_Silent_p.P316P|ST3GAL3_ENST00000330208.2_Intron	NM_001270459.1|NM_006279.3|NM_174964.2	NP_001257388.1|NP_006270.1|NP_777624.1	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	332					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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|N-acetyllactosaminide alpha-2,3-sialyltransferase activity (GO:0008118)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCAACGCACCCCTGCACTACT	0.587																																						ENST00000262915.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19						c.(1201-1203)ccC>ccA		ST3 beta-galactoside alpha-2,3-sialyltransferase 3							95.0	68.0	77.0					1																	44386558		2203	4300	6503	SO:0001819	synonymous_variant	6487				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	g.chr1:44386558C>A	L23768	CCDS492.1, CCDS493.1, CCDS494.1, CCDS495.1, CCDS496.1, CCDS497.1, CCDS498.1, CCDS499.1, CCDS500.1, CCDS53310.1, CCDS57988.1, CCDS57989.1, CCDS57990.1, CCDS57991.1, CCDS57992.1, CCDS57993.1, CCDS57994.1	1p34.1	2014-01-31	2005-02-07	2005-02-07	ENSG00000126091	ENSG00000126091	2.4.99.6	"""Sialyltransferases"""	10866	protein-coding gene	gene with protein product	"""ST3Gal III"""	606494	"""sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase)"", ""mental retardation, non-syndromic, autosomal recessive, 12"""	SIAT6, MRT12		8333853, 21907012	Standard	NM_174963		Approved		uc001cjz.4	Q11203	OTTHUMG00000007561	ENST00000361392.4:c.996C>A	1.37:g.44386558C>A						ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000361400.4_Silent_p.P316P|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000361746.4_Silent_p.P401P|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372369.1_Silent_p.P302P|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000332628.6_Silent_p.P301P|ST3GAL3_ENST00000372374.2_Silent_p.P301P|ST3GAL3_ENST00000372372.2_Silent_p.P370P|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361392.4_Silent_p.P332P|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000351035.3_Silent_p.P370P|ST3GAL3_ENST00000347631.2_Silent_p.P347P|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372375.2_Silent_p.P386P|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372368.2_Silent_p.P386P	p.P401P	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN			12	1380	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)	332					A9Z1W2|D3DPX8|Q5T4W9|Q5T4X0|Q5T4X7|Q5T4X8|Q5T4X9|Q5T4Y0|Q5T4Y2|Q5T4Y3|Q5T4Y4|Q86UR6|Q86UR7|Q86UR8|Q86UR9|Q86US0|Q86US1|Q86US2|Q8IX41|Q8IX42|Q8IX43|Q8IX44|Q8IX45|Q8IX46|Q8IX47|Q8IX48|Q8IX49|Q8IX50|Q8IX51|Q8IX52|Q8IX53|Q8IX54|Q8IX55|Q8IX56|Q8IX57|Q8IX58	Silent	SNP	ENST00000361392.4	37	c.1203C>A	CCDS492.1	.	.	.	.	.	.	.	.	.	.	C	9.579	1.122974	0.20959	.	.	ENSG00000126091	ENST00000490502	T	0.32023	1.47	4.67	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.41396	0.1157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33599	-0.9862	7	0.87932	D	0	.	8.5406	0.33390	0.2682:0.6482:0.0:0.0836	.	.	.	.	H	131	ENSP00000436298:P131H	ENSP00000436298:P131H	P	+	2	0	ST3GAL3	44159145	0.924000	0.31332	1.000000	0.80357	0.986000	0.74619	-0.058000	0.11750	2.307000	0.77673	0.591000	0.81541	CCC		0.587	ST3GAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019964.1	NM_174963		4	43	4	43	---	---	---	---
CYP4X1	260293	broad.mit.edu	37	1	47515758	47515758	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:47515758C>A	ENST00000371901.3	+	12	1692	c.1442C>A	c.(1441-1443)cCc>cAc	p.P481H	CYP4X1_ENST00000538609.1_Missense_Mutation_p.P480H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	481						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACTCCAGACCCCACCAGGCCT	0.468																																						ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(1441-1443)cCc>cAc		cytochrome P450, family 4, subfamily X, polypeptide 1							131.0	132.0	132.0					1																	47515758		2203	4300	6503	SO:0001583	missense	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47515758C>A	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1442C>A	1.37:g.47515758C>A	ENSP00000360968:p.Pro481His					CYP4X1_ENST00000538609.1_Missense_Mutation_p.P480H	p.P481H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN			12	1692	+			481					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Missense_Mutation	SNP	ENST00000371901.3	37	c.1442C>A	CCDS544.1	.	.	.	.	.	.	.	.	.	.	c	8.706	0.910941	0.17833	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	T;T	0.70631	-0.5;-0.5	5.4	2.28	0.28536	.	0.703054	0.14868	N	0.293710	T	0.52821	0.1758	L	0.28192	0.835	0.27079	N	0.963137	B;B	0.14438	0.01;0.002	B;B	0.21546	0.035;0.012	T	0.41215	-0.9521	10	0.35671	T	0.21	.	4.5617	0.12163	0.0:0.4071:0.163:0.43	.	481;480	Q8N118;G3V1U1	CP4X1_HUMAN;.	H	480;481	ENSP00000445965:P480H;ENSP00000360968:P481H	ENSP00000360968:P481H	P	+	2	0	CYP4X1	47288345	0.000000	0.05858	0.976000	0.42696	0.489000	0.33432	0.083000	0.14871	0.651000	0.30788	0.467000	0.42956	CCC		0.468	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033		7	284	7	284	---	---	---	---
STIL	6491	broad.mit.edu	37	1	47746590	47746590	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:47746590C>A	ENST00000360380.3	-	13	1903	c.1540G>T	c.(1540-1542)Ggg>Tgg	p.G514W	STIL_ENST00000396221.2_Missense_Mutation_p.G514W|STIL_ENST00000371877.3_Missense_Mutation_p.G514W|STIL_ENST00000337817.5_Missense_Mutation_p.G514W|STIL_ENST00000243182.6_Missense_Mutation_p.G514W	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	514					cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TGGGGGTTCCCTTTCTTATAG	0.418																																						ENST00000360380.3																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(1540-1542)Ggg>Tgg		SCL/TAL1 interrupting locus							94.0	93.0	94.0					1																	47746590		2203	4300	6503	SO:0001583	missense	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47746590C>A	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1540G>T	1.37:g.47746590C>A	ENSP00000353544:p.Gly514Trp					STIL_ENST00000243182.6_Missense_Mutation_p.G514W|STIL_ENST00000396221.2_Missense_Mutation_p.G514W|STIL_ENST00000337817.5_Missense_Mutation_p.G514W|STIL_ENST00000371877.3_Missense_Mutation_p.G514W	p.G514W	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN			13	1903	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	514					Q5T0C5|Q68CN9	Missense_Mutation	SNP	ENST00000360380.3	37	c.1540G>T	CCDS548.1	.	.	.	.	.	.	.	.	.	.	C	9.426	1.084355	0.20309	.	.	ENSG00000123473	ENST00000360380;ENST00000337817;ENST00000371877;ENST00000396221;ENST00000243182;ENST00000447475	T;T;T;T;T;T	0.47528	2.18;2.18;2.18;2.18;2.18;0.84	5.14	5.14	0.70334	.	0.898647	0.09730	N	0.763209	T	0.45597	0.1350	L	0.27053	0.805	0.09310	N	1	P;D;P;D;D	0.59357	0.896;0.985;0.896;0.985;0.985	P;P;P;P;P	0.51355	0.487;0.667;0.487;0.667;0.667	T	0.33445	-0.9868	10	0.66056	D	0.02	-0.0263	8.7964	0.34883	0.1503:0.7741:0.0:0.0756	.	514;467;514;514;514	E9PSF2;Q5T0C7;B7ZLW5;Q15468-2;Q15468	.;.;.;.;STIL_HUMAN	W	514;514;514;514;514;467	ENSP00000353544:G514W;ENSP00000337367:G514W;ENSP00000360944:G514W;ENSP00000379523:G514W;ENSP00000243182:G514W;ENSP00000411664:G467W	ENSP00000243182:G514W	G	-	1	0	STIL	47519177	0.001000	0.12720	0.019000	0.16419	0.057000	0.15508	0.927000	0.28818	2.677000	0.91161	0.655000	0.94253	GGG		0.418	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	NM_003035		9	222	9	222	---	---	---	---
USP1	7398	broad.mit.edu	37	1	62910475	62910475	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:62910475G>T	ENST00000339950.4	+	6	1439	c.624G>T	c.(622-624)ttG>ttT	p.L208F	USP1_ENST00000371146.1_Missense_Mutation_p.L208F	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	208	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AATGTATTTTGGGAAACATTC	0.338																																					Ovarian(122;1846 2315 3982 19504)	ENST00000339950.4																			0				breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19						c.(622-624)ttG>ttT		ubiquitin specific peptidase 1							70.0	77.0	75.0					1																	62910475		2203	4298	6501	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62910475G>T		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.624G>T	1.37:g.62910475G>T	ENSP00000343526:p.Leu208Phe					USP1_ENST00000371146.1_Missense_Mutation_p.L208F	p.L208F	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	6	1439	+		all_neural(321;0.0281)	208					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.624G>T	CCDS621.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858924	0.71834	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.57907	0.37;0.37	5.5	5.5	0.81552	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.64402	D	0.000002	T	0.71821	0.3385	M	0.70595	2.14	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.73701	-0.3900	10	0.87932	D	0	-4.0968	15.9381	0.79734	0.0:0.0:0.8648:0.1352	.	208	O94782	UBP1_HUMAN	F	208	ENSP00000360188:L208F;ENSP00000343526:L208F	ENSP00000343526:L208F	L	+	3	2	USP1	62683063	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.889000	0.39718	2.850000	0.98022	0.650000	0.86243	TTG		0.338	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		5	235	5	235	---	---	---	---
IL12RB2	3595	broad.mit.edu	37	1	67861329	67861329	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:67861329C>A	ENST00000262345.1	+	16	2786	c.2146C>A	c.(2146-2148)Cca>Aca	p.P716T	IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P630T|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000371000.1_3'UTR	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	716					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TCAAGTGACCCCAGTTTTCAG	0.537																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(2146-2148)Cca>Aca		interleukin 12 receptor, beta 2							85.0	86.0	86.0					1																	67861329		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67861329C>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.2146C>A	1.37:g.67861329C>A	ENSP00000262345:p.Pro716Thr					IL12RB2_ENST00000371000.1_3'UTR|IL12RB2_ENST00000541374.1_3'UTR|IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000544434.1_Missense_Mutation_p.P630T	p.P716T	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			16	2786	+			716					B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.2146C>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.491344	0.44249	.	.	ENSG00000081985	ENST00000262345;ENST00000544434	T;T	0.39997	1.05;1.89	4.36	0.23	0.15372	.	0.725987	0.12430	N	0.469662	T	0.18257	0.0438	L	0.46157	1.445	0.09310	N	0.999999	P;P	0.46220	0.874;0.483	P;B	0.44946	0.465;0.122	T	0.07790	-1.0754	10	0.56958	D	0.05	-4.8893	4.1166	0.10084	0.0:0.4948:0.1946:0.3106	.	630;716	F5H7L6;Q99665	.;I12R2_HUMAN	T	716;630	ENSP00000262345:P716T;ENSP00000442443:P630T	ENSP00000262345:P716T	P	+	1	0	IL12RB2	67633917	0.001000	0.12720	0.000000	0.03702	0.016000	0.09150	0.326000	0.19646	-0.040000	0.13580	-0.291000	0.09656	CCA		0.537	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		5	106	5	106	---	---	---	---
RPE65	6121	broad.mit.edu	37	1	68906685	68906685	+	Splice_Site	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:68906685T>C	ENST00000262340.5	-	6	549		c.e6-2			NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa						cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.?(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AAGATCAACCTACGGAAGTAA	0.428																																						ENST00000262340.5																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						c.e6-2		retinal pigment epithelium-specific protein 65kDa							61.0	62.0	61.0					1																	68906685		2203	4300	6503	SO:0001630	splice_region_variant	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68906685T>C	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.496-2A>G	1.37:g.68906685T>C								NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN			6	549	-								A8K1L0|Q5T9U3	Splice_Site	SNP	ENST00000262340.5	37		CCDS643.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166603	0.38217	.	.	ENSG00000116745	ENST00000262340	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6694	0.77262	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPE65	68679273	1.000000	0.71417	0.971000	0.41717	0.222000	0.24845	7.475000	0.81041	2.107000	0.64212	0.477000	0.44152	.		0.428	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329	Intron	4	79	4	79	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77510218	77510218	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:77510218C>A	ENST00000477717.1	+	3	826	c.591C>A	c.(589-591)ccC>ccA	p.P197P		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	197					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGGTGCTGCCCCGGCTGAAGG	0.577																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(589-591)ccC>ccA		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							112.0	113.0	113.0					1																	77510218		2203	4300	6503	SO:0001819	synonymous_variant	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510218C>A		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.591C>A	1.37:g.77510218C>A							p.P197P	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN			3	826	+			197					B1AK82	Silent	SNP	ENST00000477717.1	37	c.591C>A	CCDS673.1																																																																																				0.577	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		6	235	6	235	---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91405265	91405265	+	Missense_Mutation	SNP	C	C	A	rs201083603		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:91405265C>A	ENST00000370440.1	-	3	1863	c.1646G>T	c.(1645-1647)gGg>gTg	p.G549V	ZNF644_ENST00000337393.5_Missense_Mutation_p.G549V|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	549					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(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TACCACTGCCCCATGTGCAAT	0.393																																						ENST00000370440.1																			0				breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1645-1647)gGg>gTg		zinc finger protein 644							95.0	92.0	93.0					1																	91405265		2203	4299	6502	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405265C>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1646G>T	1.37:g.91405265C>A	ENSP00000359469:p.Gly549Val					ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G549V|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron	p.G549V			Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1863	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	549					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.1646G>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966108	0.53507	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00620	6.17;6.17	5.87	5.87	0.94306	.	0.112447	0.64402	D	0.000008	T	0.02418	0.0074	M	0.78344	2.41	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60652	-0.7221	10	0.51188	T	0.08	-13.6548	20.2245	0.98337	0.0:1.0:0.0:0.0	.	549	Q9H582	ZN644_HUMAN	V	549;549;121	ENSP00000359469:G549V;ENSP00000337008:G549V	ENSP00000337008:G549V	G	-	2	0	ZNF644	91177853	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.359000	0.66074	2.770000	0.95276	0.650000	0.86243	GGG		0.393	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		7	258	7	258	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94517240	94517240	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:94517240G>T	ENST00000370225.3	-	17	2688	c.2602C>A	c.(2602-2604)Cca>Aca	p.P868T	ABCA4_ENST00000535735.1_Missense_Mutation_p.P794T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	868					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAGGAAGTGGGGTTCCATAG	0.398																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(2602-2604)Cca>Aca		ATP-binding cassette, sub-family A (ABC1), member 4							72.0	67.0	69.0					1																	94517240		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94517240G>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2602C>A	1.37:g.94517240G>T	ENSP00000359245:p.Pro868Thr					ABCA4_ENST00000535735.1_Missense_Mutation_p.P794T	p.P868T	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	17	2688	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	868					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.2602C>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075665	0.76415	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	T;T	0.76316	-1.01;-1.01	5.82	4.89	0.63831	.	0.297230	0.38436	N	0.001684	T	0.72692	0.3492	L	0.61218	1.895	0.29933	N	0.821776	D;B	0.55800	0.973;0.135	P;B	0.47864	0.559;0.156	T	0.72877	-0.4159	10	0.87932	D	0	.	16.8766	0.86053	0.0:0.1284:0.8716:0.0	.	794;868	F5H6E5;P78363	.;ABCA4_HUMAN	T	868;794	ENSP00000359245:P868T;ENSP00000437682:P794T	ENSP00000359245:P868T	P	-	1	0	ABCA4	94289828	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.532000	0.67154	1.438000	0.47492	0.655000	0.94253	CCA		0.398	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		5	100	5	100	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103462681	103462681	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:103462681C>A	ENST00000370096.3	-	26	2509		c.e26-1		COL11A1_ENST00000358392.2_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGATGACCCTATATTTAGC	0.318																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.e26-1		collagen, type XI, alpha 1							128.0	146.0	140.0					1																	103462681		2203	4299	6502	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103462681C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2197-1G>T	1.37:g.103462681C>A						COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site		NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	26	2550	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37		CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941708	0.73557	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9268	0.88986	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103235269	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	7.214000	0.77958	2.230000	0.72887	0.455000	0.32223	.		0.318	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	8	529	8	529	---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104117851	104117851	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:104117851G>T	ENST00000361355.4	+	8	1501	c.885G>T	c.(883-885)tgG>tgT	p.W295C	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	295					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ATAGGAACTGGGGAGAAGGTT	0.418																																						ENST00000361355.4																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46						c.(883-885)tgG>tgT		amylase, alpha 2B (pancreatic)							257.0	264.0	262.0					1																	104117851		2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104117851G>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.885G>T	1.37:g.104117851G>T	ENSP00000354610:p.Trp295Cys					AMY2B_ENST00000491397.1_3'UTR	p.W295C	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	8	1501	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	295					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.885G>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307490	0.81247	.	.	ENSG00000240038	ENST00000361355	D	0.98280	-4.84	5.26	5.26	0.73747	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	H	0.96861	3.895	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98519	1.0622	10	0.87932	D	0	.	18.939	0.92598	0.0:0.0:1.0:0.0	.	295	P19961	AMY2B_HUMAN	C	295	ENSP00000354610:W295C	ENSP00000354610:W295C	W	+	3	0	AMY2B	103919374	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.793000	0.99091	2.462000	0.83206	0.558000	0.71614	TGG		0.418	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		15	1340	15	1340	---	---	---	---
VAV3	10451	broad.mit.edu	37	1	108185310	108185310	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:108185310G>T	ENST00000370056.4	-	20	2119	c.1845C>A	c.(1843-1845)ccC>ccA	p.P615P	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000415432.2_Silent_p.P55P|VAV3_ENST00000527011.1_Silent_p.P615P|VAV3_ENST00000544443.1_Silent_p.P19P	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	615	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.|Sufficient for interaction with ROS1.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GCTGTAAAGGGGGTCCTTCAT	0.478																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.(1843-1845)ccC>ccA		vav 3 guanine nucleotide exchange factor							118.0	114.0	115.0					1																	108185310		2203	4300	6503	SO:0001819	synonymous_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108185310G>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1845C>A	1.37:g.108185310G>T						VAV3_ENST00000527011.1_Silent_p.P615P|VAV3_ENST00000415432.2_Silent_p.P55P|VAV3_ENST00000544443.1_Silent_p.P19P|VAV3_ENST00000343258.4_5'UTR	p.P615P	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	20	2119	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)	615			SH3 1.		B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Silent	SNP	ENST00000370056.4	37	c.1845C>A	CCDS785.1	.	.	.	.	.	.	.	.	.	.	G	1.534	-0.543686	0.04053	.	.	ENSG00000134215	ENST00000529809	T	0.70164	-0.46	5.52	-3.51	0.04696	.	0.050546	0.85682	D	0.000000	T	0.46347	0.1388	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52653	-0.8547	7	0.87932	D	0	.	0.7898	0.01056	0.3448:0.1008:0.2366:0.3177	.	.	.	.	H	143	ENSP00000431544:P143H	ENSP00000434944:P40H	P	-	2	0	VAV3	107986833	0.963000	0.33076	0.417000	0.26559	0.088000	0.18126	-0.100000	0.10990	-0.484000	0.06763	-1.105000	0.02106	CCC		0.478	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113		6	203	6	203	---	---	---	---
CSF1	1435	broad.mit.edu	37	1	110466551	110466551	+	Silent	SNP	C	C	A	rs151241389		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110466551C>A	ENST00000329608.6	+	6	1699	c.1308C>A	c.(1306-1308)ccC>ccA	p.P436P	CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369801.1_Intron|CSF1_ENST00000369802.3_Silent_p.P436P|CSF1_ENST00000420111.2_Intron	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	436					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCGTGCTGCCCCTTGGGGAGC	0.682																																						ENST00000329608.6																			0				breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(1306-1308)ccC>ccA		colony stimulating factor 1 (macrophage)							53.0	68.0	63.0					1																	110466551		2203	4300	6503	SO:0001819	synonymous_variant	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110466551C>A	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.1308C>A	1.37:g.110466551C>A						CSF1_ENST00000369802.3_Silent_p.P436P|CSF1_ENST00000420111.2_Intron|CSF1_ENST00000344188.5_Intron|CSF1_ENST00000369801.1_Intron	p.P436P	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	6	1699	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	436					A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Silent	SNP	ENST00000329608.6	37	c.1308C>A	CCDS816.1																																																																																				0.682	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	NM_000757		5	132	5	132	---	---	---	---
AHCYL1	10768	broad.mit.edu	37	1	110562206	110562206	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110562206G>T	ENST00000369799.5	+	15	1790	c.1423G>T	c.(1423-1425)Ggg>Tgg	p.G475W	AHCYL1_ENST00000393614.4_Missense_Mutation_p.G428W|AHCYL1_ENST00000359172.3_Missense_Mutation_p.G428W	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	475					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TGCACCCGAGGGGCGATACAA	0.408																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.(1423-1425)Ggg>Tgg		adenosylhomocysteinase-like 1							136.0	142.0	140.0					1																	110562206		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110562206G>T	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1423G>T	1.37:g.110562206G>T	ENSP00000358814:p.Gly475Trp					AHCYL1_ENST00000359172.3_Missense_Mutation_p.G428W|AHCYL1_ENST00000393614.4_Missense_Mutation_p.G428W	p.G475W	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	15	1790	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	475					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.1423G>T	CCDS818.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160017	0.94727	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	T;T;T	0.78816	-1.21;-1.21;-1.21	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91365	0.7276	H	0.94503	3.545	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.92252	0.5809	10	0.87932	D	0	-9.2943	20.8794	0.99867	0.0:0.0:1.0:0.0	.	475	O43865	SAHH2_HUMAN	W	475;428;428	ENSP00000358814:G475W;ENSP00000352092:G428W;ENSP00000377238:G428W	ENSP00000352092:G428W	G	+	1	0	AHCYL1	110363729	1.000000	0.71417	0.985000	0.45067	0.859000	0.49053	9.837000	0.99465	2.941000	0.99782	0.655000	0.94253	GGG		0.408	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			7	267	7	267	---	---	---	---
SLC16A4	9122	broad.mit.edu	37	1	110925493	110925493	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110925493C>G	ENST00000369779.4	-	3	432	c.183G>C	c.(181-183)tgG>tgC	p.W61C	SLC16A4_ENST00000437429.2_Intron|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C|SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C|LAMTOR5-AS1_ENST00000590413.1_RNA	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	61					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.W61C(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TGGATCCAATCCAACCAATTT	0.408																																						ENST00000369779.4																			1	Substitution - Missense(1)	p.W61C(1)	prostate(1)	breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(181-183)tgG>tgC		solute carrier family 16, member 4	Pyruvic acid(DB00119)						136.0	128.0	131.0					1																	110925493		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110925493C>G	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.183G>C	1.37:g.110925493C>G	ENSP00000358794:p.Trp61Cys					SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C|SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C	p.W61C	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	3	432	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	61					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.183G>C	CCDS823.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597102	0.66332	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781	T;D;T	0.82081	0.02;-1.57;0.02	4.55	3.61	0.41365	Major facilitator superfamily domain, general substrate transporter (1);	0.262068	0.41396	D	0.000887	D	0.88687	0.6504	M	0.84156	2.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.90179	0.4241	10	0.72032	D	0.01	.	12.4566	0.55708	0.1676:0.8324:0.0:0.0	.	61;61;61	G3V175;Q8WU09;O15374	.;.;MOT5_HUMAN	C	61	ENSP00000358794:W61C;ENSP00000432495:W61C;ENSP00000358796:W61C	ENSP00000358794:W61C	W	-	3	0	SLC16A4	110727016	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.453000	0.66645	1.221000	0.43506	0.655000	0.94253	TGG		0.408	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		62	156	62	156	---	---	---	---
CEPT1	10390	broad.mit.edu	37	1	111703854	111703854	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:111703854G>T	ENST00000545121.1	+	4	773	c.565G>T	c.(565-567)Ggg>Tgg	p.G189W	CEPT1_ENST00000357172.4_Missense_Mutation_p.G189W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	189					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TTGTTTTGCGGGGACATTTAT	0.383																																						ENST00000545121.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8						c.(565-567)Ggg>Tgg		choline/ethanolamine phosphotransferase 1	Choline(DB00122)						218.0	218.0	218.0					1																	111703854		2203	4300	6503	SO:0001583	missense	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111703854G>T	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.565G>T	1.37:g.111703854G>T	ENSP00000441980:p.Gly189Trp					CEPT1_ENST00000357172.4_Missense_Mutation_p.G189W	p.G189W	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	4	773	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	189					Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	c.565G>T	CCDS830.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761371	0.89932	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.44881	0.91;0.91	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.58736	0.2143	M	0.75085	2.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56805	-0.7918	10	0.42905	T	0.14	-24.656	17.2447	0.87025	0.0:0.0:1.0:0.0	.	189	Q9Y6K0	CEPT1_HUMAN	W	189	ENSP00000441980:G189W;ENSP00000349696:G189W	ENSP00000349696:G189W	G	+	1	0	CEPT1	111505377	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.461000	0.97646	2.671000	0.90904	0.555000	0.69702	GGG		0.383	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		9	575	9	575	---	---	---	---
DCLRE1B	64858	broad.mit.edu	37	1	114454708	114454708	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:114454708G>T	ENST00000369563.3	+	4	1940	c.1494G>T	c.(1492-1494)agG>agT	p.R498S	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	498					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		CTGAATTCAGGGGTCTAGCAC	0.507								Other identified genes with known or suspected DNA repair function																														ENST00000369563.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(1492-1494)agG>agT	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1B							100.0	106.0	104.0					1																	114454708		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454708G>T	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1494G>T	1.37:g.114454708G>T	ENSP00000358576:p.Arg498Ser					DCLRE1B_ENST00000466480.1_Intron	p.R498S	NM_022836.3	NP_073747.1	Q9H816	DCR1B_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	1940	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	498					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.1494G>T	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.361440	0.24684	.	.	ENSG00000118655	ENST00000369563	T	0.74315	-0.83	5.85	0.193	0.15139	.	0.972762	0.08472	N	0.940859	T	0.35480	0.0933	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23226	-1.0194	10	0.56958	D	0.05	-12.0474	1.1159	0.01714	0.2901:0.1479:0.4098:0.1522	.	498	Q9H816	DCR1B_HUMAN	S	498	ENSP00000358576:R498S	ENSP00000358576:R498S	R	+	3	2	DCLRE1B	114256231	0.000000	0.05858	0.010000	0.14722	0.005000	0.04900	0.028000	0.13644	-0.216000	0.10048	-0.182000	0.12963	AGG		0.507	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836		6	245	6	245	---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115222228	115222228	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:115222228G>T	ENST00000520113.2	-	7	983	c.968C>A	c.(967-969)cCc>cAc	p.P323H	AMPD1_ENST00000369538.3_Missense_Mutation_p.P319H|AMPD1_ENST00000353928.6_Missense_Mutation_p.P290H			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	323					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ATCTCGGTGGGGGTTGTTTTT	0.433																																						ENST00000369538.3																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(955-957)cCc>cAc		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)						101.0	110.0	107.0					1																	115222228		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222228G>T	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.968C>A	1.37:g.115222228G>T	ENSP00000430075:p.Pro323His					AMPD1_ENST00000520113.2_Missense_Mutation_p.P323H|AMPD1_ENST00000353928.6_Missense_Mutation_p.P290H	p.P319H	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1003	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	290					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.956C>A	CCDS876.2	.	.	.	.	.	.	.	.	.	.	G	30	5.053341	0.93793	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.92199	-2.99;-2.99;-2.99	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.964	D	0.95708	0.8755	10	0.56958	D	0.05	-18.4084	19.4763	0.94991	0.0:0.0:1.0:0.0	.	319;290	Q5TF02;P23109	.;AMPD1_HUMAN	H	323;319;290	ENSP00000430075:P323H;ENSP00000358551:P319H;ENSP00000316520:P290H	ENSP00000316520:P290H	P	-	2	0	AMPD1	115023751	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.813000	0.99286	2.677000	0.91161	0.655000	0.94253	CCC		0.433	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			7	303	7	303	---	---	---	---
VANGL1	81839	broad.mit.edu	37	1	116202355	116202355	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:116202355C>A	ENST00000355485.2	+	3	436	c.165C>A	c.(163-165)ccC>ccA	p.P55P	VANGL1_ENST00000369510.4_Silent_p.P55P|VANGL1_ENST00000310260.3_Silent_p.P55P|VANGL1_ENST00000369509.1_Silent_p.P55P	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	55					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTGGAGAGCCCCTGTTGGGAA	0.488																																						ENST00000355485.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27						c.(163-165)ccC>ccA		VANGL planar cell polarity protein 1							115.0	115.0	115.0					1																	116202355		2203	4300	6503	SO:0001819	synonymous_variant	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116202355C>A	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.165C>A	1.37:g.116202355C>A						VANGL1_ENST00000369510.4_Silent_p.P55P|VANGL1_ENST00000310260.3_Silent_p.P55P|VANGL1_ENST00000369509.1_Silent_p.P55P	p.P55P	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	3	436	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	55					Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Silent	SNP	ENST00000355485.2	37	c.165C>A	CCDS883.1																																																																																				0.488	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			6	190	6	190	---	---	---	---
ATP1A1	476	broad.mit.edu	37	1	116931321	116931321	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:116931321G>T	ENST00000295598.5	+	6	815	c.563G>T	c.(562-564)gGg>gTg	p.G188V	ATP1A1_ENST00000369496.4_Missense_Mutation_p.G157V|ATP1A1_ENST00000537345.1_Missense_Mutation_p.G188V	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	188					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	GTTGTGGTTGGGGATCTGGTG	0.418																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(562-564)gGg>gTg		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						108.0	113.0	111.0					1																	116931321		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116931321G>T	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.563G>T	1.37:g.116931321G>T	ENSP00000295598:p.Gly188Val					ATP1A1_ENST00000369496.4_Missense_Mutation_p.G157V|ATP1A1_ENST00000295598.5_Missense_Mutation_p.G188V	p.G188V	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	6	926	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	188					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.563G>T	CCDS887.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258385	0.80246	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.97352	-4.35;-4.35;-4.35	5.17	4.23	0.50019	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.99174	0.9714	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98352	1.0544	10	0.87932	D	0	.	14.2704	0.66149	0.0734:0.0:0.9266:0.0	.	188;188	F5H3A1;P05023	.;AT1A1_HUMAN	V	188;188;187;157	ENSP00000295598:G188V;ENSP00000445306:G188V;ENSP00000358508:G157V	ENSP00000295598:G188V	G	+	2	0	ATP1A1	116732844	1.000000	0.71417	0.998000	0.56505	0.679000	0.39708	7.810000	0.86072	2.676000	0.91093	0.655000	0.94253	GGG		0.418	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		7	271	7	271	---	---	---	---
ATP1A1	476	broad.mit.edu	37	1	116932153	116932153	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:116932153C>A	ENST00000295598.5	+	8	1099	c.847C>A	c.(847-849)Ccc>Acc	p.P283T	ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000369496.4_Missense_Mutation_p.P252T|ATP1A1_ENST00000537345.1_Missense_Mutation_p.P283T	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	283					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	AGGCCAGACCCCCATTGCTGC	0.493																																						ENST00000537345.1																			0				NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(847-849)Ccc>Acc		ATPase, Na+/K+ transporting, alpha 1 polypeptide	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)						239.0	211.0	221.0					1																	116932153		2203	4300	6503	SO:0001583	missense	476				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:116932153C>A	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.847C>A	1.37:g.116932153C>A	ENSP00000295598:p.Pro283Thr					ATP1A1_ENST00000369496.4_Missense_Mutation_p.P252T|ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000295598.5_Missense_Mutation_p.P283T	p.P283T	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	8	1210	+	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)	283					B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	37	c.847C>A	CCDS887.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680570	0.88542	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	D;D;D	0.91686	-2.89;-2.89;-2.89	5.18	4.24	0.50183	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95526	0.8546	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95529	0.8601	10	0.87932	D	0	.	14.2857	0.66245	0.0:0.9268:0.0:0.0732	.	283;283	F5H3A1;P05023	.;AT1A1_HUMAN	T	283;283;282;252	ENSP00000295598:P283T;ENSP00000445306:P283T;ENSP00000358508:P252T	ENSP00000295598:P283T	P	+	1	0	ATP1A1	116733676	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.927000	0.70080	2.703000	0.92315	0.585000	0.79938	CCC		0.493	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233		7	227	7	227	---	---	---	---
PTGFRN	5738	broad.mit.edu	37	1	117516926	117516926	+	Missense_Mutation	SNP	G	G	T	rs142086076	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117516926G>T	ENST00000393203.2	+	7	2295	c.2148G>T	c.(2146-2148)gaG>gaT	p.E716D	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	716	Ig-like C2-type 6.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCACTGTCGAGGGAGCAGCAC	0.438																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2146-2148)gaG>gaT		prostaglandin F2 receptor inhibitor							190.0	186.0	187.0					1																	117516926		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117516926G>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2148G>T	1.37:g.117516926G>T	ENSP00000376899:p.Glu716Asp					PTGFRN_ENST00000496699.1_3'UTR	p.E716D	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	7	2295	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	716			Ig-like C2-type 6.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2148G>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.596882	0.28445	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.54279	0.58	5.34	-5.62	0.02481	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.382375	0.27936	N	0.017251	T	0.06234	0.0161	N	0.01874	-0.695	0.29790	N	0.833282	B	0.02656	0.0	B	0.04013	0.001	T	0.27088	-1.0084	10	0.28530	T	0.3	-14.5268	6.4857	0.22087	0.2714:0.3931:0.3355:0.0	.	716	Q9P2B2	FPRP_HUMAN	D	716;575	ENSP00000376899:E716D	ENSP00000376899:E716D	E	+	3	2	PTGFRN	117318449	0.876000	0.30132	0.724000	0.30704	0.960000	0.62799	-0.155000	0.10115	-0.820000	0.04318	-0.312000	0.09012	GAG		0.438	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		6	240	6	240	---	---	---	---
PTGFRN	5738	broad.mit.edu	37	1	117529548	117529548	+	Missense_Mutation	SNP	C	C	T	rs140355100|rs34483540		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117529548C>T	ENST00000393203.2	+	9	2746	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	867					lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R867W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCAGGAGACACGGCGCGAGCG	0.617																																						ENST00000393203.2																			1	Substitution - Missense(1)	p.R867W(1)	prostate(1)	NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2599-2601)Cgg>Tgg		prostaglandin F2 receptor inhibitor							102.0	101.0	101.0					1																	117529548		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117529548C>T	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.2599C>T	1.37:g.117529548C>T	ENSP00000376899:p.Arg867Trp						p.R867W	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	9	2746	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	867					Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.2599C>T	CCDS890.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.011030	0.54361	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.32988	1.43	6.16	-3.92	0.04155	.	0.064020	0.64402	D	0.000012	T	0.39332	0.1074	L	0.51422	1.61	0.30394	N	0.780742	D	0.89917	1.0	D	0.87578	0.998	T	0.60271	-0.7296	10	0.87932	D	0	-35.0866	25.0221	0.99992	0.1362:0.8638:0.0:0.0	.	867	Q9P2B2	FPRP_HUMAN	W	867;726	ENSP00000376899:R867W	ENSP00000376899:R867W	R	+	1	2	PTGFRN	117331071	0.001000	0.12720	0.195000	0.23364	0.988000	0.76386	-0.294000	0.08309	-0.534000	0.06315	-0.275000	0.10095	CGG		0.617	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		56	108	56	108	---	---	---	---
MAN1A2	10905	broad.mit.edu	37	1	117944807	117944807	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117944807G>T	ENST00000356554.3	+	2	1037		c.e2-1		MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2						cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TTTTCTCACAGGGAAGAGGAA	0.353																																					Ovarian(33;199 881 8228 13687 31538)	ENST00000356554.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27						c.e2-1		mannosidase, alpha, class 1A, member 2							55.0	58.0	57.0					1																	117944807		2197	4298	6495	SO:0001630	splice_region_variant	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117944807G>T	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.303-1G>T	1.37:g.117944807G>T						MAN1A2_ENST00000482811.1_Intron		NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	2	1037	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)						Q9H510	Splice_Site	SNP	ENST00000356554.3	37		CCDS895.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233568	0.79688	.	.	ENSG00000198162	ENST00000356554	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2254	0.86969	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAN1A2	117746330	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	9.311000	0.96282	2.665000	0.90641	0.585000	0.79938	.		0.353	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699	Intron	4	159	4	159	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144882782	144882782	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:144882782C>A	ENST00000369354.3	-	24	3426	c.3237G>T	c.(3235-3237)aaG>aaT	p.K1079N	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.K1216N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1216N|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1145N|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1079N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1079					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCACCTCGCCCTTCTCCTTGT	0.517			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(3646-3648)aaG>aaT		phosphodiesterase 4D interacting protein							300.0	269.0	279.0					1																	144882782		2203	4296	6499	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144882782C>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3237G>T	1.37:g.144882782C>A	ENSP00000358360:p.Lys1079Asn					PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1079N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1216N|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.K1145N|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1079N	p.K1216N			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	27	3686	-			1079					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.3648G>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851377	0.71719	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01787	4.64;4.75;4.75;4.75;4.75	5.91	4.05	0.47172	.	.	.	.	.	T	0.02610	0.0079	L	0.56769	1.78	0.80722	D	1	P;D	0.76494	0.649;0.999	B;D	0.81914	0.295;0.995	T	0.55611	-0.8114	9	0.34782	T	0.22	.	5.8067	0.18444	0.1565:0.6866:0.0:0.1569	.	1145;1079	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	N	1145;1079;1079;1216;1216	ENSP00000327209:K1145N;ENSP00000358360:K1079N;ENSP00000358363:K1079N;ENSP00000435654:K1216N;ENSP00000358366:K1216N	ENSP00000327209:K1145N	K	-	3	2	PDE4DIP	143594139	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.540000	0.23191	0.854000	0.35336	0.655000	0.94253	AAG		0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		10	792	10	792	---	---	---	---
POLR3C	10623	broad.mit.edu	37	1	145601557	145601557	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:145601557G>T	ENST00000334163.3	-	7	1009	c.849C>A	c.(847-849)ccC>ccA	p.P283P	POLR3C_ENST00000369294.1_Silent_p.P283P|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	283					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|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)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GCTGGGTGAAGGGAGCACTAG	0.418																																						ENST00000334163.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(847-849)ccC>ccA		polymerase (RNA) III (DNA directed) polypeptide C (62kD)							172.0	155.0	161.0					1																	145601557		2203	4300	6503	SO:0001819	synonymous_variant	10623				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr1:145601557G>T	AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.849C>A	1.37:g.145601557G>T						POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Silent_p.P283P	p.P283P	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	Epithelial(2;7.55e-13)		7	1009	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		283					O15317|Q9Y3R6	Silent	SNP	ENST00000334163.3	37	c.849C>A	CCDS921.1																																																																																				0.418	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038542.1	NM_006468		5	118	5	118	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152057837	152057837	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152057837G>T	ENST00000368806.1	-	3	2385	c.2321C>A	c.(2320-2322)cCc>cAc	p.P774H		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	774							calcium ion binding (GO:0005509)	p.P774H(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTTGACCAGGGGACTGAAGA	0.502																																						ENST00000368806.1																			1	Substitution - Missense(1)	p.P774H(1)	lung(1)	breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(2320-2322)cCc>cAc		trichohyalin-like 1							151.0	142.0	145.0					1																	152057837		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152057837G>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2321C>A	1.37:g.152057837G>T	ENSP00000357796:p.Pro774His						p.P774H	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2385	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		774					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2321C>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.00	2.106439	0.37145	.	.	ENSG00000182898	ENST00000368806	T	0.26223	1.75	4.01	1.9	0.25705	.	0.639949	0.13023	N	0.419922	T	0.07188	0.0182	L	0.40543	1.245	0.09310	N	1	B	0.23591	0.088	B	0.21917	0.037	T	0.26538	-1.0100	10	0.51188	T	0.08	1.7401	3.9979	0.09566	0.1248:0.0:0.641:0.2342	.	774	Q5QJ38	TCHL1_HUMAN	H	774	ENSP00000357796:P774H	ENSP00000357796:P774H	P	-	2	0	TCHHL1	150324461	0.405000	0.25336	0.019000	0.16419	0.003000	0.03518	0.701000	0.25616	0.989000	0.38761	0.655000	0.94253	CCC		0.502	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		8	316	8	316	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152057905	152057905	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152057905G>T	ENST00000368806.1	-	3	2317	c.2253C>A	c.(2251-2253)ccC>ccA	p.P751P		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	751							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGCTCTTGGGGACTTTCAT	0.453																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(2251-2253)ccC>ccA		trichohyalin-like 1							146.0	147.0	147.0					1																	152057905		2203	4300	6503	SO:0001819	synonymous_variant	126637						calcium ion binding	g.chr1:152057905G>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2253C>A	1.37:g.152057905G>T							p.P751P	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2317	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		751					B2RPK8|Q5VTJ9	Silent	SNP	ENST00000368806.1	37	c.2253C>A	CCDS30857.1																																																																																				0.453	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		10	399	10	399	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152127798	152127798	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152127798C>A	ENST00000316073.3	-	3	1841	c.1777G>T	c.(1777-1779)Ggg>Tgg	p.G593W		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	593	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTATTTTGCCCTTGTATTTCC	0.458																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1777-1779)Ggg>Tgg		repetin							362.0	325.0	336.0					1																	152127798		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127798C>A	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1777G>T	1.37:g.152127798C>A	ENSP00000317895:p.Gly593Trp						p.G593W	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1841	-			593			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.1777G>T	CCDS41397.1	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350016	0.24426	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.58060	0.36	4.71	0.718	0.18202	.	0.565703	0.13061	U	0.416875	T	0.40815	0.1132	L	0.38175	1.15	0.09310	N	1	D	0.71674	0.998	D	0.65573	0.936	T	0.16958	-1.0385	10	0.66056	D	0.02	-0.777	6.9207	0.24387	0.0:0.5115:0.0:0.4885	.	593	Q6XPR3	RPTN_HUMAN	W	593;248	ENSP00000317895:G593W	ENSP00000317895:G593W	G	-	1	0	RPTN	150394422	0.000000	0.05858	0.007000	0.13788	0.332000	0.28634	-0.568000	0.05909	0.099000	0.17552	-0.499000	0.04595	GGG		0.458	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		9	560	9	560	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152188056	152188056	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152188056C>A	ENST00000368801.2	-	3	6124	c.6049G>T	c.(6049-6051)Ggg>Tgg	p.G2017W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2017					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGCCCATGGGTAGAG	0.562																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6049-6051)Ggg>Tgg		hornerin							418.0	591.0	532.0					1																	152188056		2165	4191	6356	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188056C>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6049G>T	1.37:g.152188056C>A	ENSP00000357791:p.Gly2017Trp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G2017W	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6124	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2017					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.6049G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	4.280	0.051075	0.08243	.	.	ENSG00000197915	ENST00000368801	T	0.03035	4.07	3.58	1.63	0.23807	.	.	.	.	.	T	0.04452	0.0122	L	0.46157	1.445	0.09310	N	1	D	0.71674	0.998	D	0.69479	0.964	T	0.36601	-0.9741	9	0.66056	D	0.02	.	7.7188	0.28721	0.0:0.7732:0.0:0.2268	.	2017	Q86YZ3	HORN_HUMAN	W	2017	ENSP00000357791:G2017W	ENSP00000357791:G2017W	G	-	1	0	HRNR	150454680	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.124000	0.10595	0.825000	0.34637	0.505000	0.49811	GGG		0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		17	1601	17	1601	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152195662	152195662	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152195662C>A	ENST00000368801.2	-	2	143	c.68G>T	c.(67-69)gGg>gTg	p.G23V	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	23	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.|S-100-like.				establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCATACTCCCCATGCTGGGT	0.418																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(67-69)gGg>gTg		hornerin							168.0	154.0	159.0					1																	152195662		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152195662C>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.68G>T	1.37:g.152195662C>A	ENSP00000357791:p.Gly23Val					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G23V	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	143	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		23			EF-hand 1.|S-100-like.		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.68G>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.814019	0.32053	.	.	ENSG00000197915	ENST00000368801	T	0.38240	1.15	5.4	1.01	0.19927	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	.	.	.	.	T	0.53045	0.1772	M	0.93763	3.455	0.51012	D	0.999909	D	0.89917	1.0	D	0.79108	0.992	T	0.57015	-0.7883	9	0.72032	D	0.01	.	6.4944	0.22133	0.0:0.555:0.0:0.445	.	23	Q86YZ3	HORN_HUMAN	V	23	ENSP00000357791:G23V	ENSP00000357791:G23V	G	-	2	0	HRNR	150462286	0.011000	0.17503	0.923000	0.36655	0.672000	0.39443	-0.270000	0.08584	0.348000	0.23949	0.591000	0.81541	GGG		0.418	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		7	241	7	241	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152276103	152276103	+	Missense_Mutation	SNP	C	C	A	rs563905924	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152276103C>A	ENST00000368799.1	-	3	11294	c.11259G>T	c.(11257-11259)gaG>gaT	p.E3753D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3753	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)	p.E3753D(1)		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)			TGTCCTGACCCTCTTGGGACG	0.617									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.E3753D(1)	urinary_tract(1)	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						c.(11257-11259)gaG>gaT		filaggrin							310.0	306.0	307.0					1																	152276103		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.chr1:152276103C>A	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.11259G>T	1.37:g.152276103C>A	ENSP00000357789:p.Glu3753Asp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.E3753D	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11294	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3753			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11259G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973431	0.34848	.	.	ENSG00000143631	ENST00000368799	T	0.01705	4.68	3.08	-6.16	0.02098	.	.	.	.	.	T	0.01222	0.0040	L	0.41824	1.3	0.09310	N	1	D	0.59767	0.986	D	0.70227	0.968	T	0.14144	-1.0483	9	0.17832	T	0.49	.	7.7253	0.28757	0.0:0.2341:0.5945:0.1714	.	3753	P20930	FILA_HUMAN	D	3753	ENSP00000357789:E3753D	ENSP00000357789:E3753D	E	-	3	2	FLG	150542727	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-2.812000	0.00754	-1.560000	0.01686	0.552000	0.68991	GAG		0.617	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	710	9	710	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152277601	152277601	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152277601G>T	ENST00000368799.1	-	3	9796	c.9761C>A	c.(9760-9762)cCc>cAc	p.P3254H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3254	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)	p.P3254H(2)		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)			ATGGGACCTGGGGTGTCTGGA	0.582									Ichthyosis																													ENST00000368799.1																			2	Substitution - Missense(2)	p.P3254H(2)	lung(2)	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						c.(9760-9762)cCc>cAc		filaggrin							232.0	236.0	235.0					1																	152277601		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.chr1:152277601G>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.9761C>A	1.37:g.152277601G>T	ENSP00000357789:p.Pro3254His					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.P3254H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9796	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3254			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9761C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.314	0.822776	0.16678	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.01685	4.69	2.56	-2.45	0.06481	.	.	.	.	.	T	0.01905	0.0060	M	0.68317	2.08	0.09310	N	1	D	0.64830	0.994	D	0.71414	0.973	T	0.38802	-0.9644	9	0.62326	D	0.03	-0.3832	0.6189	0.00775	0.2507:0.1735:0.3764:0.1994	.	3254	P20930	FILA_HUMAN	H	3254;192	ENSP00000357789:P3254H	ENSP00000357786:P192H	P	-	2	0	FLG	150544225	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.022000	0.03611	-0.560000	0.06102	-0.507000	0.04495	CCC		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	589	9	589	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152280128	152280128	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152280128C>A	ENST00000368799.1	-	3	7269	c.7234G>T	c.(7234-7236)Ggg>Tgg	p.G2412W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2412	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)			AGGAAAGACCCTGAACGTCCA	0.602									Ichthyosis																													ENST00000368799.1																			0				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						c.(7234-7236)Ggg>Tgg		filaggrin							158.0	153.0	154.0					1																	152280128		2203	4297	6500	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.chr1:152280128C>A	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.7234G>T	1.37:g.152280128C>A	ENSP00000357789:p.Gly2412Trp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G2412W	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7269	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2412			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7234G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.251	1.040792	0.19669	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.02552	4.25	3.6	1.55	0.23275	.	.	.	.	.	T	0.06142	0.0159	M	0.79123	2.44	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.12451	-1.0547	9	0.87932	D	0	.	9.6051	0.39628	0.0:0.5262:0.4738:0.0	.	2412	P20930	FILA_HUMAN	W	2412;322	ENSP00000357789:G2412W	ENSP00000271820:G322W	G	-	1	0	FLG	150546752	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.215000	0.09279	0.270000	0.21984	0.485000	0.47835	GGG		0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		6	332	6	332	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152284559	152284559	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152284559C>A	ENST00000368799.1	-	3	2838	c.2803G>T	c.(2803-2805)Ggg>Tgg	p.G935W	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	935	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)	p.G935W(1)		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)			GTCCTGGACCCCTCTGATTGT	0.572									Ichthyosis																													ENST00000368799.1																			1	Substitution - Missense(1)	p.G935W(1)	large_intestine(1)	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						c.(2803-2805)Ggg>Tgg		filaggrin							325.0	300.0	309.0					1																	152284559		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.chr1:152284559C>A	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.2803G>T	1.37:g.152284559C>A	ENSP00000357789:p.Gly935Trp					FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G935W	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2838	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		935			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.2803G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	3.326	-0.137714	0.06711	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01787	4.64	2.81	0.827	0.18835	.	.	.	.	.	T	0.02649	0.0080	M	0.78916	2.43	0.09310	N	1	D	0.71674	0.998	D	0.63793	0.918	T	0.36939	-0.9727	9	0.72032	D	0.01	.	4.6164	0.12428	0.0:0.6682:0.0:0.3318	.	935	P20930	FILA_HUMAN	W	935;142	ENSP00000357789:G935W	ENSP00000357789:G935W	G	-	1	0	FLG	150551183	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.628000	0.24522	-0.007000	0.14345	0.473000	0.43528	GGG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		9	580	9	580	---	---	---	---
LCE2A	353139	broad.mit.edu	37	1	152671631	152671631	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152671631C>A	ENST00000368779.1	+	2	305	c.254C>A	c.(253-255)cCc>cAc	p.P85H		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	85	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCAGAGCCCCGATTGTTGT	0.652																																						ENST00000368779.1																			0				breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(253-255)cCc>cAc		late cornified envelope 2A							41.0	49.0	46.0					1																	152671631		2203	4298	6501	SO:0001583	missense	353139				keratinization			g.chr1:152671631C>A		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.254C>A	1.37:g.152671631C>A	ENSP00000357768:p.Pro85His						p.P85H	NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	305	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		85			Cys-rich.		A4QMZ9	Missense_Mutation	SNP	ENST00000368779.1	37	c.254C>A	CCDS1021.1	.	.	.	.	.	.	.	.	.	.	C	2.264	-0.368685	0.05069	.	.	ENSG00000187173	ENST00000368779	T	0.03635	3.86	4.72	3.81	0.43845	.	.	.	.	.	T	0.01222	0.0040	L	0.36672	1.1	0.09310	N	1	P	0.43169	0.8	B	0.42163	0.378	T	0.45920	-0.9228	9	0.13853	T	0.58	.	8.5257	0.33304	0.0:0.8907:0.0:0.1093	.	85	Q5TA79	LCE2A_HUMAN	H	85	ENSP00000357768:P85H	ENSP00000357768:P85H	P	+	2	0	LCE2A	150938255	0.000000	0.05858	0.014000	0.15608	0.154000	0.21943	0.483000	0.22292	0.948000	0.37687	0.650000	0.86243	CCC		0.652	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428		5	91	5	91	---	---	---	---
LCE1C	353133	broad.mit.edu	37	1	152777624	152777624	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152777624C>T	ENST00000607093.1	-	1	330	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	LCE1C_ENST00000368768.1_Missense_Mutation_p.G111S			Q5T751	LCE1C_HUMAN	late cornified envelope 1C	111	Gly-rich.				keratinization (GO:0031424)			p.G111S(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTGCTGGCCACTCCCCCCG	0.657																																						ENST00000368768.1																			1	Substitution - Missense(1)	p.G111S(1)	prostate(1)	NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9						c.(331-333)Ggc>Agc		late cornified envelope 1C							34.0	40.0	38.0					1																	152777624		2190	4291	6481	SO:0001583	missense	353133				keratinization			g.chr1:152777624C>T		CCDS1026.1	1q21.3	2008-02-05			ENSG00000197084	ENSG00000197084		"""Late cornified envelopes"""	29464	protein-coding gene	gene with protein product		612605				11698679	Standard	NM_001276331		Approved	LEP3	uc001fap.1	Q5T751	OTTHUMG00000012445	ENST00000607093.1:c.331G>A	1.37:g.152777624C>T	ENSP00000475270:p.Gly111Ser					LCE1C_ENST00000607093.1_Missense_Mutation_p.G111S	p.G111S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	381	-	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		111			Gly-rich.			Missense_Mutation	SNP	ENST00000607093.1	37	c.331G>A	CCDS1026.1	.	.	.	.	.	.	.	.	.	.	C	0.712	-0.786716	0.02907	.	.	ENSG00000197084	ENST00000368768	T	0.05081	3.5	2.82	-5.64	0.02466	.	1.541000	0.04274	N	0.342653	T	0.02418	0.0074	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41288	-0.9517	10	0.87932	D	0	.	12.4185	0.55508	0.0:0.772:0.0:0.228	.	111	Q5T751	LCE1C_HUMAN	S	111	ENSP00000357757:G111S	ENSP00000357757:G111S	G	-	1	0	LCE1C	151044248	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-2.057000	0.01395	-1.710000	0.01397	-0.793000	0.03317	GGC		0.657	LCE1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034658.2	NM_178351		14	39	14	39	---	---	---	---
LCE1A	353131	broad.mit.edu	37	1	152800255	152800255	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152800255G>A	ENST00000335123.2	+	1	307	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	103	Cys-rich.				keratinization (GO:0031424)			p.G103S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGGACAGCGGCCAGCACTC	0.622																																						ENST00000335123.2																			1	Substitution - Missense(1)	p.G103S(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8						c.(307-309)Ggc>Agc		late cornified envelope 1A							16.0	19.0	18.0					1																	152800255		2190	4273	6463	SO:0001583	missense	353131				keratinization			g.chr1:152800255G>A		CCDS1028.1	1q21.3	2011-01-28			ENSG00000186844	ENSG00000186844		"""Late cornified envelopes"""	29459	protein-coding gene	gene with protein product		612603				11698679	Standard	NM_178348		Approved	LEP1	uc010pdw.2	Q5T7P2	OTTHUMG00000012447	ENST00000335123.2:c.307G>A	1.37:g.152800255G>A	ENSP00000334869:p.Gly103Ser						p.G103S	NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	307	+	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		103			Cys-rich.			Missense_Mutation	SNP	ENST00000335123.2	37	c.307G>A	CCDS1028.1	.	.	.	.	.	.	.	.	.	.	g	2.780	-0.253790	0.05829	.	.	ENSG00000186844	ENST00000368766;ENST00000335123	T;T	0.05081	3.5;3.5	4.3	-8.61	0.00885	.	1.380920	0.05331	N	0.528276	T	0.02267	0.0070	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43605	-0.9381	10	0.87932	D	0	.	10.546	0.45060	0.7437:0.0:0.1464:0.1099	.	103	Q5T7P2	LCE1A_HUMAN	S	103	ENSP00000357755:G103S;ENSP00000334869:G103S	ENSP00000334869:G103S	G	+	1	0	LCE1A	151066879	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-1.920000	0.01571	-1.867000	0.01144	-1.309000	0.01313	GGC		0.622	LCE1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034660.2	NM_178348		4	14	4	14	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153998193	153998193	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:153998193C>A	ENST00000368559.3	-	30	4019		c.e30-1		NUP210L_ENST00000368553.1_Splice_Site|NUP210L_ENST00000271854.3_Splice_Site	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like						Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGCTCCTTCCCTAGGGAACAA	0.473																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.e30-1		nucleoporin 210kDa-like							178.0	165.0	169.0					1																	153998193		1891	4130	6021	SO:0001630	splice_region_variant	91181					integral to membrane		g.chr1:153998193C>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3948-1G>T	1.37:g.153998193C>A						NUP210L_ENST00000368553.1_Splice_Site|NUP210L_ENST00000271854.3_Splice_Site		NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		30	4019	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)							E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Splice_Site	SNP	ENST00000368559.3	37		CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319355	0.81469	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6815	0.88245	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP210L	152264817	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.900000	0.63252	2.714000	0.92807	0.561000	0.74099	.		0.473	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	Intron	7	333	7	333	---	---	---	---
C1orf189	388701	broad.mit.edu	37	1	154173005	154173005	+	Missense_Mutation	SNP	G	G	T	rs191282756		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:154173005G>T	ENST00000368525.3	-	3	159	c.134C>A	c.(133-135)cCg>cAg	p.P45Q		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	45										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)					GGTGGCATACGGGTTTCTTCT	0.517																																						ENST00000368525.3																			0				kidney(1)|large_intestine(3)|lung(1)|skin(2)	7						c.(133-135)cCg>cAg		chromosome 1 open reading frame 189							297.0	271.0	280.0					1																	154173005		2203	4300	6503	SO:0001583	missense	388701							g.chr1:154173005G>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.134C>A	1.37:g.154173005G>T	ENSP00000357511:p.Pro45Gln						p.P45Q	NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN			3	159	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		45					A1L4E3	Missense_Mutation	SNP	ENST00000368525.3	37	c.134C>A	CCDS30876.1	.	.	.	.	.	.	.	.	.	.	G	8.942	0.966138	0.18659	.	.	ENSG00000163263	ENST00000368525	.	.	.	4.82	1.82	0.25136	.	0.103254	0.64402	D	0.000002	T	0.20740	0.0499	L	0.40543	1.245	0.21290	N	0.999734	D	0.63880	0.993	P	0.62740	0.906	T	0.11012	-1.0605	9	0.14656	T	0.56	.	6.0449	0.19753	0.3493:0.0:0.6507:0.0	.	45	Q5VU69	CA189_HUMAN	Q	45	.	ENSP00000357511:P45Q	P	-	2	0	C1orf189	152439629	0.466000	0.25823	0.284000	0.24805	0.799000	0.45148	0.483000	0.22292	0.201000	0.20466	0.561000	0.74099	CCG		0.517	C1orf189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087672.1	NM_001010979		9	468	9	468	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155385613	155385613	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:155385613C>A	ENST00000368346.3	-	6	6569	c.5930G>T	c.(5929-5931)aGg>aTg	p.R1977M	snoU13_ENST00000458873.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.R1977M			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1977					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTCTTTTCCCTTGGGATGAG	0.453																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(5929-5931)aGg>aTg		ash1 (absent, small, or homeotic)-like (Drosophila)							125.0	135.0	132.0					1																	155385613		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155385613C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5930G>T	1.37:g.155385613C>A	ENSP00000357330:p.Arg1977Met					ASH1L_ENST00000392403.3_Missense_Mutation_p.R1977M	p.R1977M			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		6	6569	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1977					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.5930G>T		.	.	.	.	.	.	.	.	.	.	C	23.9	4.469389	0.84533	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.47869	0.83;0.83	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.38931	0.1059	N	0.24115	0.695	0.80722	D	1	D;D	0.60160	0.978;0.987	P;P	0.54460	0.57;0.753	T	0.40701	-0.9549	10	0.72032	D	0.01	.	16.1993	0.82057	0.0:1.0:0.0:0.0	.	1977;1977	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	M	1977	ENSP00000357330:R1977M;ENSP00000376204:R1977M	ENSP00000357330:R1977M	R	-	2	0	ASH1L	153652237	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.679000	0.68160	2.604000	0.88044	0.585000	0.79938	AGG		0.453	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		7	342	7	342	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155883915	155883915	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:155883915G>T	ENST00000368321.3	-	14	1865	c.1842C>A	c.(1840-1842)ccC>ccA	p.P614P	RIT1_ENST00000368323.3_5'Flank|KIAA0907_ENST00000368320.3_3'UTR|RIT1_ENST00000539040.1_5'Flank	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	614							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTGTTTCCTAGGGAGCCATCC	0.443																																						ENST00000368321.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1840-1842)ccC>ccA		KIAA0907							129.0	114.0	119.0					1																	155883915		2203	4300	6503	SO:0001819	synonymous_variant	22889							g.chr1:155883915G>T	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1842C>A	1.37:g.155883915G>T						KIAA0907_ENST00000368320.3_3'UTR	p.P614P	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		14	1865	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		614					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Silent	SNP	ENST00000368321.3	37	c.1842C>A	CCDS30885.1																																																																																				0.443	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		6	173	6	173	---	---	---	---
PMF1	11243	broad.mit.edu	37	1	156203446	156203446	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156203446G>T	ENST00000368273.4	+	3	311	c.301G>T	c.(301-303)Ggg>Tgg	p.G101W	PMF1_ENST00000565805.1_Missense_Mutation_p.G99W|PMF1_ENST00000368279.3_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.G99W|PMF1_ENST00000567140.1_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.G99W|PMF1_ENST00000368277.3_Missense_Mutation_p.G99W	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1									p.G99R(1)		kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CAAAGAGGAGGGGAACCTAGA	0.478																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)	ENST00000368277.3																			1	Substitution - Missense(1)	p.G99R(1)	large_intestine(1)	kidney(1)|large_intestine(2)|lung(3)	6						c.(295-297)Ggg>Tgg		polyamine-modulated factor 1							148.0	157.0	154.0					1																	156203446		2203	4300	6503	SO:0001583	missense	11243							g.chr1:156203446G>T	AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.301G>T	1.37:g.156203446G>T	ENSP00000357256:p.Gly101Trp					PMF1_ENST00000567140.1_Missense_Mutation_p.G99W|PMF1_ENST00000565805.1_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.G99W|PMF1_ENST00000368273.4_Missense_Mutation_p.G101W|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.G99W|PMF1_ENST00000368279.3_Missense_Mutation_p.G99W|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.G99W	p.G99W	NM_007221.3	NP_009152.2					3	304	+	Hepatocellular(266;0.158)								Missense_Mutation	SNP	ENST00000368273.4	37	c.295G>T	CCDS55648.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061748	0.76187	.	.	ENSG00000160783	ENST00000368279;ENST00000368273;ENST00000368277;ENST00000368276;ENST00000320139	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.48077	0.1480	M	0.73962	2.25	0.45464	D	0.998434	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.52155	-0.8613	10	0.87932	D	0	-13.2608	14.2769	0.66187	0.0:0.0:1.0:0.0	.	99;99;99	Q6P1K2-3;Q5TCK1;Q6P1K2	.;.;PMF1_HUMAN	W	99;101;99;99;99	ENSP00000357262:G99W;ENSP00000357256:G101W;ENSP00000357260:G99W;ENSP00000357259:G99W;ENSP00000324909:G99W	ENSP00000324909:G99W	G	+	1	0	PMF1	154470070	1.000000	0.71417	0.965000	0.40720	0.941000	0.58515	5.794000	0.69067	2.463000	0.83235	0.491000	0.48974	GGG		0.478	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040864.2	NM_007221		6	310	6	310	---	---	---	---
TMEM79	84283	broad.mit.edu	37	1	156255745	156255745	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156255745G>T	ENST00000405535.2	+	2	899	c.728G>T	c.(727-729)gGg>gTg	p.G243V	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.G243V|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	243					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CTGCGCTGCGGGGTCTTTGCC	0.607																																						ENST00000405535.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21						c.(727-729)gGg>gTg		transmembrane protein 79							108.0	110.0	109.0					1																	156255745		2203	4300	6503	SO:0001583	missense	84283					integral to membrane		g.chr1:156255745G>T	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.728G>T	1.37:g.156255745G>T	ENSP00000384748:p.Gly243Val					TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000295694.5_Missense_Mutation_p.G243V|TMEM79_ENST00000495881.1_3'UTR	p.G243V	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN			2	899	+	Hepatocellular(266;0.158)		243					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.728G>T	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484759	0.63962	.	.	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.46819	0.86;0.86	5.65	4.73	0.59995	.	0.358324	0.29172	N	0.012940	T	0.18964	0.0455	N	0.19112	0.55	0.51767	D	0.999934	B	0.21606	0.058	B	0.22601	0.04	T	0.09100	-1.0690	10	0.66056	D	0.02	-14.0384	11.231	0.48912	0.0:0.1378:0.7193:0.1429	.	243	Q9BSE2	TMM79_HUMAN	V	243	ENSP00000295694:G243V;ENSP00000384748:G243V	ENSP00000295694:G243V	G	+	2	0	TMEM79	154522369	1.000000	0.71417	0.998000	0.56505	0.862000	0.49288	4.403000	0.59729	1.350000	0.45770	0.561000	0.74099	GGG		0.607	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1	NM_032323		6	227	6	227	---	---	---	---
HAPLN2	60484	broad.mit.edu	37	1	156593630	156593630	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156593630C>A	ENST00000255039.1	+	4	524	c.117C>A	c.(115-117)ccC>ccA	p.P39P		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	39	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTCCTGCCCCCCATCCACG	0.682																																						ENST00000255039.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7						c.(115-117)ccC>ccA		hyaluronan and proteoglycan link protein 2							9.0	10.0	10.0					1																	156593630		2090	4116	6206	SO:0001819	synonymous_variant	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156593630C>A	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.117C>A	1.37:g.156593630C>A							p.P39P	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN			4	524	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		39			Ig-like V-type.		Q5T3J0	Silent	SNP	ENST00000255039.1	37	c.117C>A	CCDS1148.1																																																																																				0.682	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		3	14	3	14	---	---	---	---
RRNAD1	51093	broad.mit.edu	37	1	156702827	156702827	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:156702827G>T	ENST00000368216.4	+	4	1110	c.480G>T	c.(478-480)gtG>gtT	p.V160V	RRNAD1_ENST00000476229.1_Intron|RRNAD1_ENST00000368218.4_Silent_p.V160V	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	160						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TTGTAGACGTGGGCTCAGGCC	0.517																																						ENST00000368216.4																			0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						c.(478-480)gtG>gtT		ribosomal RNA adenine dimethylase domain containing 1							116.0	109.0	111.0					1																	156702827		2203	4300	6503	SO:0001819	synonymous_variant	51093					integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr1:156702827G>T	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.480G>T	1.37:g.156702827G>T						RRNAD1_ENST00000368218.4_Silent_p.V160V|RRNAD1_ENST00000476229.1_Intron	p.V160V	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN			4	1110	+			160					D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Silent	SNP	ENST00000368216.4	37	c.480G>T	CCDS1154.1	.	.	.	.	.	.	.	.	.	.	G	9.164	1.019475	0.19355	.	.	ENSG00000143303	ENST00000522237	.	.	.	4.9	2.82	0.32997	.	.	.	.	.	T	0.26412	0.0645	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21314	-1.0249	4	.	.	.	-12.0931	1.16	0.01804	0.1495:0.2233:0.3995:0.2277	.	.	.	.	L	47	.	.	W	+	2	0	RRNAD1	154969451	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	0.398000	0.20899	0.488000	0.27723	0.561000	0.74099	TGG		0.517	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997		5	165	5	165	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157494290	157494290	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:157494290C>A	ENST00000361835.3	-	10	2175	c.2018G>T	c.(2017-2019)gGg>gTg	p.G673V	FCRL5_ENST00000461387.1_5'Flank|FCRL5_ENST00000368191.3_Missense_Mutation_p.G588V|FCRL5_ENST00000356953.4_Missense_Mutation_p.G673V|FCRL5_ENST00000368190.3_Missense_Mutation_p.G673V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	673	Ig-like C2-type 7.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGCAGGTCCCCCACCACAGC	0.552																																						ENST00000361835.3																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85						c.(2017-2019)gGg>gTg		Fc receptor-like 5							47.0	52.0	50.0					1																	157494290		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157494290C>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2018G>T	1.37:g.157494290C>A	ENSP00000354691:p.Gly673Val					FCRL5_ENST00000368191.3_Missense_Mutation_p.G588V|FCRL5_ENST00000356953.4_Missense_Mutation_p.G673V|FCRL5_ENST00000368190.3_Missense_Mutation_p.G673V	p.G673V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN			10	2175	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	673			Ig-like C2-type 7.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.2018G>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.550630	0.45383	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.10099	2.91;2.91;2.91;2.91	4.69	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.34658	0.0905	M	0.94021	3.485	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.971;0.989	D;D;D;D	0.83275	0.996;0.994;0.952;0.97	T	0.42481	-0.9449	9	0.87932	D	0	.	13.2997	0.60317	0.0:1.0:0.0:0.0	.	588;673;673;673	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	V	673;673;673;588	ENSP00000354691:G673V;ENSP00000349434:G673V;ENSP00000357173:G673V;ENSP00000357174:G588V	ENSP00000349434:G673V	G	-	2	0	FCRL5	155760914	0.463000	0.25799	0.986000	0.45419	0.109000	0.19521	2.070000	0.41491	2.595000	0.87683	0.555000	0.69702	GGG		0.552	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		4	78	4	78	---	---	---	---
AIM2	9447	broad.mit.edu	37	1	159043120	159043120	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159043120C>A	ENST00000368130.4	-	2	458	c.170G>T	c.(169-171)gGg>gTg	p.G57V	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	57	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AGACACCGCCCCAGCATTTTG	0.393																																						ENST00000368130.4																			0				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16						c.(169-171)gGg>gTg		absent in melanoma 2							88.0	89.0	89.0					1																	159043120		2203	4300	6503	SO:0001583	missense	9447				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		g.chr1:159043120C>A	AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.170G>T	1.37:g.159043120C>A	ENSP00000357112:p.Gly57Val					AIM2_ENST00000411768.1_5'UTR	p.G57V	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN			2	458	-	all_hematologic(112;0.0429)		57			DAPIN.		A8K7M7|Q5T3V9|Q96FG9	Missense_Mutation	SNP	ENST00000368130.4	37	c.170G>T	CCDS1181.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514175	0.27123	.	.	ENSG00000163568	ENST00000368130;ENST00000411768	T;T	0.52295	0.67;0.67	3.67	-1.01	0.10169	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.36580	0.0972	L	0.59436	1.845	0.09310	N	0.999992	D	0.63880	0.993	P	0.59703	0.862	T	0.11690	-1.0577	9	0.51188	T	0.08	-10.0985	4.1878	0.10407	0.0:0.3925:0.3749:0.2327	.	57	O14862	AIM2_HUMAN	V	57	ENSP00000357112:G57V;ENSP00000405197:G57V	ENSP00000357112:G57V	G	-	2	0	AIM2	157309744	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.772000	0.04694	0.008000	0.14787	0.561000	0.74099	GGG		0.393	AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833		6	154	6	154	---	---	---	---
ACKR1	2532	broad.mit.edu	37	1	159176132	159176132	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159176132C>A	ENST00000368122.2	+	2	1582	c.903C>A	c.(901-903)ccC>ccA	p.P301P	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Silent_p.P303P|DARC_ENST00000537147.1_Silent_p.P301P	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		301					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					TGGCTACGCCCCTGCTCCTCG	0.602																																						ENST00000537147.1																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(901-903)ccC>ccA		Duffy blood group, atypical chemokine receptor							179.0	192.0	188.0					1																	159176132		2203	4300	6503	SO:0001819	synonymous_variant	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159176132C>A																												ENST00000368122.2:c.903C>A	1.37:g.159176132C>A						DARC_ENST00000368122.2_Silent_p.P301P|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Silent_p.P303P	p.P301P			Q16570	DUFFY_HUMAN			3	1746	+	all_hematologic(112;0.0429)		301					A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	ENST00000368122.2	37	c.903C>A	CCDS1183.1																																																																																				0.602	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			8	465	8	465	---	---	---	---
FCRL6	343413	broad.mit.edu	37	1	159785241	159785241	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159785241G>T	ENST00000368106.3	+	9	1172	c.1171G>T	c.(1171-1173)Ggg>Tgg	p.G391W	FCRL6_ENST00000339348.5_Intron|FCRL6_ENST00000392235.3_Missense_Mutation_p.G296W|FCRL6_ENST00000321935.6_Missense_Mutation_p.G398W	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	391						external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GTTCACCGTGGGGAGAAAGGT	0.542																																						ENST00000321935.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24						c.(1192-1194)Ggg>Tgg		Fc receptor-like 6							121.0	104.0	110.0					1																	159785241		2203	4300	6503	SO:0001583	missense	343413					integral to membrane		g.chr1:159785241G>T	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.1171G>T	1.37:g.159785241G>T	ENSP00000357086:p.Gly391Trp					FCRL6_ENST00000339348.5_Intron|FCRL6_ENST00000392235.3_Missense_Mutation_p.G296W|FCRL6_ENST00000368106.3_Missense_Mutation_p.G391W	p.G398W	NM_001284217.1	NP_001271146.1	Q6DN72	FCRL6_HUMAN			10	1278	+	all_hematologic(112;0.0597)		391					A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	ENST00000368106.3	37	c.1192G>T	CCDS30912.1	.	.	.	.	.	.	.	.	.	.	G	7.349	0.622451	0.14193	.	.	ENSG00000181036	ENST00000321935;ENST00000392235;ENST00000368106	T;T;T	0.01379	4.96;5.19;5.27	3.15	-2.11	0.07187	.	.	.	.	.	T	0.00328	0.0010	N	0.08118	0	0.09310	N	1	P;P;P	0.44816	0.844;0.758;0.771	B;B;B	0.39419	0.299;0.29;0.299	T	0.48364	-0.9042	9	0.66056	D	0.02	.	4.3726	0.11255	0.4718:0.1941:0.3341:0.0	.	296;391;398	Q6DN72-4;Q6DN72;Q6DN72-2	.;FCRL6_HUMAN;.	W	398;296;391	ENSP00000320625:G398W;ENSP00000376068:G296W;ENSP00000357086:G391W	ENSP00000320625:G398W	G	+	1	0	FCRL6	158051865	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.421000	0.07053	-0.494000	0.06669	0.313000	0.20887	GGG		0.542	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310		4	87	4	87	---	---	---	---
TAGLN2	8407	broad.mit.edu	37	1	159889590	159889590	+	Missense_Mutation	SNP	C	C	A	rs150286561		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:159889590C>A	ENST00000368097.4	-	3	526	c.216G>T	c.(214-216)gaG>gaT	p.E72D	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.E72D|TAGLN2_ENST00000368096.1_Missense_Mutation_p.E93D	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	72	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGCCTGCCCCTCGGGGTACA	0.552																																						ENST00000368097.4																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(214-216)gaG>gaT		transgelin 2							176.0	164.0	168.0					1																	159889590		2203	4300	6503	SO:0001583	missense	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159889590C>A	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.216G>T	1.37:g.159889590C>A	ENSP00000357077:p.Glu72Asp					TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Missense_Mutation_p.E93D|TAGLN2_ENST00000320307.4_Missense_Mutation_p.E72D	p.E72D	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	526	-	all_hematologic(112;0.0597)		72			CH.		E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Missense_Mutation	SNP	ENST00000368097.4	37	c.216G>T	CCDS1189.1	.	.	.	.	.	.	.	.	.	.	C	9.013	0.983083	0.18889	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307;ENST00000397334	T;T;T;T	0.30714	1.54;1.52;1.54;1.54	5.09	4.16	0.48862	Calponin homology domain (5);	0.121393	0.34725	U	0.003721	T	0.04182	0.0116	N	0.01624	-0.795	0.36387	D	0.862287	B	0.02656	0.0	B	0.01281	0.0	T	0.29458	-1.0011	9	.	.	.	-36.5605	12.1224	0.53900	0.0:0.9102:0.0:0.0898	.	72	P37802	TAGL2_HUMAN	D	72;93;72;72	ENSP00000357077:E72D;ENSP00000357076:E93D;ENSP00000357075:E72D;ENSP00000412429:E72D	.	E	-	3	2	TAGLN2	158156214	0.008000	0.16893	1.000000	0.80357	0.995000	0.86356	-0.018000	0.12568	2.525000	0.85131	0.655000	0.94253	GAG		0.552	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564		7	355	7	355	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160260403	160260403	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:160260403G>T	ENST00000241704.7	-	32	3723	c.3494C>A	c.(3493-3495)cCc>cAc	p.P1165H	COPA_ENST00000368069.3_Missense_Mutation_p.P1174H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1165					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AATGTCAAAGGGGTTGTGCAT	0.493																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(3493-3495)cCc>cAc		coatomer protein complex, subunit alpha							196.0	191.0	193.0					1																	160260403		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160260403G>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.3494C>A	1.37:g.160260403G>T	ENSP00000241704:p.Pro1165His					COPA_ENST00000368069.3_Missense_Mutation_p.P1174H	p.P1165H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		32	3723	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		1165					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.3494C>A	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442782	0.83993	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.66460	-0.21;-0.21	6.03	5.12	0.69794	Coatomer, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80654	0.4664	M	0.88640	2.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.85282	0.1062	10	0.87932	D	0	-15.3832	13.7889	0.63128	0.0734:0.0:0.9266:0.0	.	1165;1174	P53621;P53621-2	COPA_HUMAN;.	H	1174;1165	ENSP00000357048:P1174H;ENSP00000241704:P1165H	ENSP00000241704:P1165H	P	-	2	0	COPA	158527027	1.000000	0.71417	0.992000	0.48379	0.899000	0.52679	8.822000	0.92013	1.562000	0.49601	0.655000	0.94253	CCC		0.493	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		8	285	8	285	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160267460	160267460	+	Missense_Mutation	SNP	C	C	A	rs112109460		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:160267460C>A	ENST00000241704.7	-	20	2282	c.2053G>T	c.(2053-2055)Ggg>Tgg	p.G685W	COPA_ENST00000368069.3_Missense_Mutation_p.G694W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	685					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGTGGTTCCCCTGCAGCAGG	0.468																																						ENST00000241704.7																			0				central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46						c.(2053-2055)Ggg>Tgg		coatomer protein complex, subunit alpha							84.0	84.0	84.0					1																	160267460		2203	4300	6503	SO:0001583	missense	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160267460C>A	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2053G>T	1.37:g.160267460C>A	ENSP00000241704:p.Gly685Trp					COPA_ENST00000368069.3_Missense_Mutation_p.G694W	p.G685W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		20	2282	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		685					Q5T201|Q8IXZ9	Missense_Mutation	SNP	ENST00000241704.7	37	c.2053G>T	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894573	0.91962	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.68479	-0.28;-0.33	5.68	5.68	0.88126	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.86087	0.5849	H	0.94734	3.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88953	0.3388	10	0.87932	D	0	-18.8449	18.7245	0.91710	0.0:1.0:0.0:0.0	.	685;694	P53621;P53621-2	COPA_HUMAN;.	W	694;685	ENSP00000357048:G694W;ENSP00000241704:G685W	ENSP00000241704:G685W	G	-	1	0	COPA	158534084	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.578000	0.82498	2.835000	0.97688	0.650000	0.86243	GGG		0.468	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		6	210	6	210	---	---	---	---
CD48	962	broad.mit.edu	37	1	160651144	160651144	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:160651144C>A	ENST00000368046.3	-	3	587	c.500G>T	c.(499-501)gGg>gTg	p.G167V	RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	167	Ig-like C2-type 2.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCTTTTGTCCCCATACCAGGT	0.443																																						ENST00000368046.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10						c.(499-501)gGg>gTg		CD48 molecule							172.0	158.0	163.0					1																	160651144		2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160651144C>A	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.500G>T	1.37:g.160651144C>A	ENSP00000357025:p.Gly167Val					RP11-404F10.2_ENST00000598917.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA	p.G167V	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	587	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		167			Ig-like C2-type 2.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.500G>T	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	7.407	0.633956	0.14322	.	.	ENSG00000117091	ENST00000368046	T	0.12569	2.67	3.5	-6.85	0.01681	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.065420	0.02183	N	0.060660	T	0.04272	0.0118	L	0.43152	1.355	0.09310	N	0.999995	P;P	0.50943	0.94;0.818	P;B	0.49140	0.601;0.374	T	0.33574	-0.9863	10	0.11485	T	0.65	-0.892	6.5393	0.22370	0.0:0.1681:0.3689:0.4629	.	167;167	Q6IAZ2;P09326	.;CD48_HUMAN	V	167	ENSP00000357025:G167V	ENSP00000357025:G167V	G	-	2	0	CD48	158917768	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.810000	0.01729	-1.795000	0.01255	-0.844000	0.03045	GGG		0.443	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		7	360	7	360	---	---	---	---
APOA2	336	broad.mit.edu	37	1	161192276	161192276	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:161192276G>T	ENST00000367990.3	-	4	279	c.222C>A	c.(220-222)ccC>ccA	p.P74P	APOA2_ENST00000463812.1_Silent_p.P26P|APOA2_ENST00000468465.1_Silent_p.P26P|APOA2_ENST00000464492.1_Silent_p.P107P|AL590714.1_ENST00000594609.1_Missense_Mutation_p.G71W|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000470459.2_Intron	NM_001643.1	NP_001634.1	P02652	APOA2_HUMAN	apolipoprotein A-II	74					acute inflammatory response (GO:0002526)|cellular lipid metabolic process (GO:0044255)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|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)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol import (GO:0060621)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cholesterol transporter activity (GO:0060695)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of lipase activity (GO:0060192)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid catabolic process (GO:0009395)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of lipid catabolic process (GO:0050996)|protein folding (GO:0006457)|protein oxidation (GO:0018158)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein stability (GO:0031647)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|viral process (GO:0016032)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein receptor binding (GO:0034190)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCTTGATCAGGGGTGTCAGCT	0.507																																						ENST00000594609.1																			0											c.(211-213)Ggg>Tgg									218.0	200.0	206.0					1																	161192276		2203	4300	6503	SO:0001819	synonymous_variant	336							g.chr1:161192276G>T		CCDS1226.1	1q23.3	2013-01-24			ENSG00000158874	ENSG00000158874		"""Apolipoproteins"""	601	protein-coding gene	gene with protein product		107670				2415515	Standard	NM_001643		Approved		uc001fzc.1	P02652	OTTHUMG00000034346	ENST00000367990.3:c.222C>A	1.37:g.161192276G>T						APOA2_ENST00000470459.2_Intron|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000468465.1_Silent_p.P26P|APOA2_ENST00000464492.1_Silent_p.P107P|APOA2_ENST00000367990.3_Silent_p.P74P|APOA2_ENST00000463812.1_Silent_p.P26P	p.G71W							2	211	+								B2R524	Missense_Mutation	SNP	ENST00000367990.3	37	c.211G>T	CCDS1226.1																																																																																				0.507	APOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083037.1	NM_001643		9	421	9	421	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165175156	165175156	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:165175156G>T	ENST00000342310.3	-	8	1315	c.933C>A	c.(931-933)ccC>ccA	p.P311P	LMX1A_ENST00000294816.2_Silent_p.P311P|LMX1A_ENST00000367893.4_Silent_p.P311P|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	311					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCTGTCGGAAGGGATCTGAGC	0.592																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(931-933)ccC>ccA		LIM homeobox transcription factor 1, alpha							115.0	115.0	115.0					1																	165175156		2203	4300	6503	SO:0001819	synonymous_variant	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165175156G>T	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.933C>A	1.37:g.165175156G>T						LMX1A_ENST00000367893.4_Silent_p.P311P|LMX1A_ENST00000294816.2_Silent_p.P311P|LMX1A_ENST00000489443.2_5'UTR	p.P311P	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			8	1315	-	all_hematologic(923;0.248)		311					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Silent	SNP	ENST00000342310.3	37	c.933C>A	CCDS1247.1																																																																																				0.592	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		5	154	5	154	---	---	---	---
FAM78B	149297	broad.mit.edu	37	1	166039992	166039992	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:166039992C>A	ENST00000338353.3	-	3	861	c.272G>T	c.(271-273)tGg>tTg	p.W91L	FAM78B_ENST00000354422.3_Missense_Mutation_p.W91L			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	91										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGGCAGTTCCCAGCTTGACCT	0.483																																						ENST00000338353.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(271-273)tGg>tTg		family with sequence similarity 78, member B							43.0	43.0	43.0					1																	166039992		2203	4299	6502	SO:0001583	missense	149297							g.chr1:166039992C>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.272G>T	1.37:g.166039992C>A	ENSP00000339681:p.Trp91Leu					FAM78B_ENST00000354422.3_Missense_Mutation_p.W91L	p.W91L			Q5VT40	FA78B_HUMAN			3	861	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		91					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.272G>T	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224210	0.79576	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.74898	0.3777	M	0.72894	2.215	0.53688	D	0.999979	D	0.67145	0.996	D	0.75484	0.986	T	0.76567	-0.2912	8	0.72032	D	0.01	-1.5131	17.3458	0.87309	0.0:1.0:0.0:0.0	.	91	Q5VT40	FA78B_HUMAN	L	91	.	ENSP00000339681:W91L	W	-	2	0	FAM78B	164306616	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.639000	0.83342	2.758000	0.94735	0.655000	0.94253	TGG		0.483	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		4	82	4	82	---	---	---	---
ILDR2	387597	broad.mit.edu	37	1	166927175	166927175	+	Missense_Mutation	SNP	C	C	A	rs200050863		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:166927175C>A	ENST00000271417.3	-	2	265	c.210G>T	c.(208-210)ttG>ttT	p.L70F	ILDR2_ENST00000526687.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529387.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529071.1_Missense_Mutation_p.L70F|ILDR2_ENST00000525740.1_Missense_Mutation_p.L70F|ILDR2_ENST00000469934.2_Missense_Mutation_p.L70F|ILDR2_ENST00000528703.1_Missense_Mutation_p.L70F	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	70	Ig-like V-type.				cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGGACATGCCCAAGGATTCTC	0.542																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(208-210)ttG>ttT		immunoglobulin-like domain containing receptor 2							142.0	126.0	131.0					1																	166927175		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166927175C>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.210G>T	1.37:g.166927175C>A	ENSP00000271417:p.Leu70Phe					ILDR2_ENST00000528703.1_Missense_Mutation_p.L70F|ILDR2_ENST00000526687.1_Missense_Mutation_p.L70F|ILDR2_ENST00000525740.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529387.1_Missense_Mutation_p.L70F|ILDR2_ENST00000529071.1_Missense_Mutation_p.L70F|ILDR2_ENST00000469934.2_Missense_Mutation_p.L70F	p.L70F	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN			2	265	-			70			Ig-like V-type.			Missense_Mutation	SNP	ENST00000271417.3	37	c.210G>T	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344489	0.41498	.	.	ENSG00000143195	ENST00000271417;ENST00000525740;ENST00000529387;ENST00000469934;ENST00000529071;ENST00000526687;ENST00000528703	T;T;T;T;T;T;T	0.76316	0.47;0.86;0.86;0.86;0.48;-1.01;0.0	5.57	5.57	0.84162	Immunoglobulin subtype (1);	0.065056	0.64402	D	0.000006	T	0.73900	0.3646	L	0.33485	1.01	0.44871	D	0.99788	D	0.76494	0.999	D	0.85130	0.997	T	0.69610	-0.5099	10	0.02654	T	1	.	19.5612	0.95373	0.0:1.0:0.0:0.0	.	70	Q71H61	ILDR2_HUMAN	F	70	ENSP00000271417:L70F;ENSP00000436120:L70F;ENSP00000431316:L70F;ENSP00000437008:L70F;ENSP00000436882:L70F;ENSP00000434273:L70F;ENSP00000432750:L70F	ENSP00000271417:L70F	L	-	3	2	ILDR2	165193799	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.926000	0.63433	2.593000	0.87608	0.563000	0.77884	TTG		0.542	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		6	232	6	232	---	---	---	---
SELE	6401	broad.mit.edu	37	1	169696959	169696959	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:169696959C>A	ENST00000333360.7	-	9	1528	c.1389G>T	c.(1387-1389)gaG>gaT	p.E463D	SELE_ENST00000367775.1_Missense_Mutation_p.E338D|SELE_ENST00000367781.4_Missense_Mutation_p.E400D|SELE_ENST00000367776.1_Missense_Mutation_p.E400D|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367777.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.E338D	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	463	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	ATTCAAATCCCTCCTCACAGC	0.498																																						ENST00000333360.7																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1387-1389)gaG>gaT		selectin E							125.0	119.0	121.0					1																	169696959		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169696959C>A	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1389G>T	1.37:g.169696959C>A	ENSP00000331736:p.Glu463Asp					SELE_ENST00000367774.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.E338D|SELE_ENST00000367776.1_Missense_Mutation_p.E400D|SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.E338D|SELE_ENST00000367781.4_Missense_Mutation_p.E400D|SELE_ENST00000367777.1_Intron	p.E463D	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN			9	1528	-	all_hematologic(923;0.208)		463			Sushi 5.		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.1389G>T	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.319859	0.41096	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25	5.9	-5.12	0.02893	Complement control module (2);Sushi/SCR/CCP (3);	0.161229	0.29579	N	0.011751	T	0.33323	0.0859	L	0.52905	1.665	0.80722	D	1	B	0.22800	0.075	B	0.24848	0.056	T	0.05835	-1.0861	10	0.44086	T	0.13	-13.6072	3.9999	0.09576	0.1083:0.3988:0.1117:0.3812	.	463	P16581	LYAM2_HUMAN	D	400;338;463;338;400	ENSP00000356755:E400D;ENSP00000356754:E338D;ENSP00000331736:E463D;ENSP00000356749:E338D;ENSP00000356750:E400D	ENSP00000331736:E463D	E	-	3	2	SELE	167963583	0.000000	0.05858	0.276000	0.24689	0.855000	0.48748	-1.860000	0.01656	-1.034000	0.03295	-1.027000	0.02421	GAG		0.498	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		6	251	6	251	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176984012	176984012	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:176984012C>A	ENST00000367654.3	-	8	1674		c.e8-1		ASTN1_ENST00000361833.2_Splice_Site|ASTN1_ENST00000281881.3_Splice_Site|ASTN1_ENST00000367657.3_Splice_Site|ASTN1_ENST00000424564.2_Splice_Site	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGCATTCCCCTTAGAAGCAG	0.423																																						ENST00000367654.3																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.e8-1		astrotactin 1							273.0	243.0	253.0					1																	176984012		2203	4300	6503	SO:0001630	splice_region_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176984012C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1463-1G>T	1.37:g.176984012C>A						ASTN1_ENST00000361833.2_Splice_Site|ASTN1_ENST00000281881.3_Splice_Site|ASTN1_ENST00000424564.2_Splice_Site|ASTN1_ENST00000367657.3_Splice_Site		NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN			8	1674	-								A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Splice_Site	SNP	ENST00000367654.3	37			.	.	.	.	.	.	.	.	.	.	C	25.4	4.639150	0.87760	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6776	0.95943	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASTN1	175250635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.155000	0.77445	2.746000	0.94184	0.655000	0.94253	.		0.423	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	Intron	7	516	7	516	---	---	---	---
XPR1	9213	broad.mit.edu	37	1	180794397	180794397	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:180794397C>A	ENST00000367590.4	+	9	1249	c.1051C>A	c.(1051-1053)Ctt>Att	p.L351I	XPR1_ENST00000367589.3_Missense_Mutation_p.L351I|AL590085.1_ENST00000579998.1_RNA	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	351					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)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCCACTTGCCCTTTATGGATT	0.438																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(1051-1053)Ctt>Att		xenotropic and polytropic retrovirus receptor 1							186.0	181.0	182.0					1																	180794397		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180794397C>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1051C>A	1.37:g.180794397C>A	ENSP00000356562:p.Leu351Ile					XPR1_ENST00000367589.3_Missense_Mutation_p.L351I	p.L351I	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN			9	1249	+			351					O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1051C>A	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191593	0.78902	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.49720	0.77;0.77	5.52	4.55	0.56014	EXS, C-terminal (1);	0.062220	0.64402	D	0.000004	T	0.62829	0.2460	M	0.85462	2.755	0.80722	D	1	D;P	0.55605	0.972;0.496	P;P	0.57846	0.828;0.461	T	0.67213	-0.5727	10	0.66056	D	0.02	-10.8302	6.8644	0.24084	0.1694:0.7158:0.0:0.1149	.	351;351	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	I	351	ENSP00000356562:L351I;ENSP00000356561:L351I	ENSP00000356561:L351I	L	+	1	0	XPR1	179061020	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	3.543000	0.53633	2.587000	0.87381	0.557000	0.71058	CTT		0.438	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		8	476	8	476	---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183177169	183177169	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:183177169G>T	ENST00000264144.4	+	2	298	c.233G>T	c.(232-234)aGg>aTg	p.R78M	LAMC2_ENST00000493293.1_Missense_Mutation_p.R78M	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	78	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CACAGAGAAAGGGACCGCTGT	0.507																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(232-234)aGg>aTg		laminin, gamma 2							239.0	233.0	235.0					1																	183177169		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183177169G>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.233G>T	1.37:g.183177169G>T	ENSP00000264144:p.Arg78Met					LAMC2_ENST00000493293.1_Missense_Mutation_p.R78M	p.R78M	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			2	298	+			78			Laminin EGF-like 1.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.233G>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178188	0.57692	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.62105	0.05;0.05	4.81	3.89	0.44902	EGF-like, laminin (4);Growth factor, receptor (1);	0.192779	0.37530	N	0.002054	T	0.73321	0.3572	M	0.81802	2.56	0.24258	N	0.995299	D;D	0.67145	0.993;0.996	P;D	0.65443	0.898;0.935	T	0.63980	-0.6514	10	0.48119	T	0.1	.	5.5587	0.17131	0.2305:0.0:0.7695:0.0	.	78;78	Q13753;Q13753-2	LAMC2_HUMAN;.	M	78	ENSP00000432063:R78M;ENSP00000264144:R78M	ENSP00000264144:R78M	R	+	2	0	LAMC2	181443792	0.066000	0.20996	0.954000	0.39281	0.859000	0.49053	1.441000	0.35035	2.219000	0.72066	0.591000	0.81541	AGG		0.507	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		10	509	10	509	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183514075	183514075	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:183514075C>A	ENST00000347615.2	+	16	2117	c.1998C>A	c.(1996-1998)ccC>ccA	p.P666P	SMG7_ENST00000515829.2_Silent_p.P620P|SMG7_ENST00000456731.2_Silent_p.P578P|SMG7_ENST00000508461.1_Silent_p.P624P|SMG7_ENST00000507469.1_Silent_p.P620P|SMG7_ENST00000367537.3_Silent_p.P649P	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	666	Gln/Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GGTTTCCGCCCCCAACATATG	0.438																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1945-1947)ccC>ccA		SMG7 nonsense mediated mRNA decay factor							88.0	94.0	92.0					1																	183514075		2203	4300	6503	SO:0001819	synonymous_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183514075C>A	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1998C>A	1.37:g.183514075C>A						SMG7_ENST00000347615.2_Silent_p.P666P|SMG7_ENST00000515829.2_Silent_p.P620P|SMG7_ENST00000508461.1_Silent_p.P624P|SMG7_ENST00000456731.2_Silent_p.P578P|SMG7_ENST00000507469.1_Silent_p.P620P	p.P649P			Q92540	SMG7_HUMAN			17	2142	+			666			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	ENST00000347615.2	37	c.1947C>A	CCDS1355.1																																																																																				0.438	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		6	262	6	262	---	---	---	---
APOBEC4	403314	broad.mit.edu	37	1	183617132	183617132	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:183617132G>T	ENST00000308641.4	-	2	1056	c.785C>A	c.(784-786)cCc>cAc	p.P262H	RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	262					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						ATTGTTTAAGGGGTAGCTCTC	0.448																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(784-786)cCc>cAc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)							93.0	98.0	96.0					1																	183617132		2203	4300	6503	SO:0001583	missense	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183617132G>T	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.785C>A	1.37:g.183617132G>T	ENSP00000310622:p.Pro262His					RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron	p.P262H	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	1056	-			262					Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	c.785C>A	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	g	2.730	-0.264728	0.05754	.	.	ENSG00000173627	ENST00000308641	T	0.13538	2.58	5.15	-2.13	0.07144	.	1.047600	0.07590	N	0.921821	T	0.10680	0.0261	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43212	-0.9405	10	0.56958	D	0.05	-26.2345	0.505	0.00586	0.2097:0.2109:0.2571:0.3223	.	262	Q8WW27	ABEC4_HUMAN	H	262	ENSP00000310622:P262H	ENSP00000310622:P262H	P	-	2	0	APOBEC4	181883755	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.123000	0.10611	-0.349000	0.08274	-0.121000	0.15023	CCC		0.448	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		6	279	6	279	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186280621	186280621	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:186280621C>A	ENST00000445192.2	+	10	3731	c.3686C>A	c.(3685-3687)cCc>cAc	p.P1229H	PRG4_ENST00000367483.4_Missense_Mutation_p.P1188H|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367485.4_Missense_Mutation_p.P1136H|PRG4_ENST00000367484.3_Missense_Mutation_p.P758H|PRG4_ENST00000367486.3_Missense_Mutation_p.P1186H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1229					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCAGGGTACCCCAAACCAATT	0.353																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(3685-3687)cCc>cAc		proteoglycan 4							81.0	92.0	88.0					1																	186280621		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186280621C>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3686C>A	1.37:g.186280621C>A	ENSP00000399679:p.Pro1229His					PRG4_ENST00000367485.4_Missense_Mutation_p.P1136H|PRG4_ENST00000367486.3_Missense_Mutation_p.P1186H|PRG4_ENST00000367484.3_Missense_Mutation_p.P758H|PRG4_ENST00000367483.4_Missense_Mutation_p.P1188H	p.P1229H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			10	3731	+			1229			Hemopexin-like 2.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.3686C>A	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.391301	0.62066	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.95	4.95	0.65309	Hemopexin/matrixin (2);	0.000000	0.45361	D	0.000363	D	0.89406	0.6706	H	0.98370	4.215	0.54753	D	0.999982	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93697	0.7012	10	0.87932	D	0	-7.7884	18.551	0.91065	0.0:1.0:0.0:0.0	.	1095;1136;1229;1188	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	H	1186;758;1188;1136;1229	ENSP00000356456:P1186H;ENSP00000356454:P758H;ENSP00000356453:P1188H;ENSP00000356455:P1136H;ENSP00000399679:P1229H	ENSP00000356453:P1188H	P	+	2	0	PRG4	184547244	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.328000	0.79160	2.453000	0.82957	0.585000	0.79938	CCC		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	333	6	333	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186289546	186289546	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:186289546G>A	ENST00000367478.4	-	46	6762	c.6466C>T	c.(6466-6468)Ccg>Tcg	p.P2156S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2156					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.P2156S(2)|p.P2143S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAACCTGCGGCGAACTAAAT	0.398			T	NTRK1	papillary thyroid																																	ENST00000367478.4				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		3	Substitution - Missense(3)	p.P2156S(2)|p.P2143S(1)	prostate(3)	autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(6466-6468)Ccg>Tcg		translocated promoter region, nuclear basket protein							63.0	55.0	57.0					1																	186289546		1829	4076	5905	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186289546G>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6466C>T	1.37:g.186289546G>A	ENSP00000356448:p.Pro2156Ser						p.P2156S	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	46	6762	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)						Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6466C>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095884	0.56075	.	.	ENSG00000047410	ENST00000367478	T	0.73681	-0.77	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.83589	0.5287	M	0.75264	2.295	0.80722	D	1	D	0.64830	0.994	P	0.56343	0.796	D	0.84963	0.0878	10	0.52906	T	0.07	.	18.7252	0.91711	0.0:0.0:1.0:0.0	.	2156	P12270	TPR_HUMAN	S	2156	ENSP00000356448:P2156S	ENSP00000356448:P2156S	P	-	1	0	TPR	184556169	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	8.950000	0.93019	2.421000	0.82119	0.563000	0.77884	CCG		0.398	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		14	63	14	63	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197404276	197404276	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:197404276G>T	ENST00000367400.3	+	9	3418	c.3283G>T	c.(3283-3285)Ggg>Tgg	p.G1095W	CRB1_ENST00000367397.1_Missense_Mutation_p.G476W|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G576W|CRB1_ENST00000367399.2_Missense_Mutation_p.G983W|CRB1_ENST00000535699.1_Missense_Mutation_p.G1071W	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	1095	Laminin G-like 3. {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						GGGCCTGCAAGGGTGTCTAAG	0.368																																						ENST00000367397.1																			0				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						c.(1426-1428)Ggg>Tgg		crumbs homolog 1 (Drosophila)							59.0	63.0	62.0					1																	197404276		2203	4299	6502	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.chr1:197404276G>T		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.3283G>T	1.37:g.197404276G>T	ENSP00000356370:p.Gly1095Trp					CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G576W|CRB1_ENST00000367400.3_Missense_Mutation_p.G1095W|CRB1_ENST00000367399.2_Missense_Mutation_p.G983W|CRB1_ENST00000535699.1_Missense_Mutation_p.G1071W	p.G476W			P82279	CRUM1_HUMAN			5	2284	+			1095			EGF-like 11.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1426G>T	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757762	0.49468	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	D;D;D;D;D	0.96651	-4.08;-4.08;-4.08;-4.08;-4.08	5.7	5.7	0.88788	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.98488	0.9496	M	0.88181	2.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.99160	1.0861	9	0.87932	D	0	.	19.8311	0.96636	0.0:0.0:1.0:0.0	.	1071;983;744;1095	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	W	1071;1095;983;576;476;744	ENSP00000438786:G1071W;ENSP00000356370:G1095W;ENSP00000356369:G983W;ENSP00000444556:G576W;ENSP00000356367:G476W	ENSP00000356367:G476W	G	+	1	0	CRB1	195670899	1.000000	0.71417	0.473000	0.27253	0.039000	0.13416	9.368000	0.97152	2.681000	0.91329	0.650000	0.86243	GGG		0.368	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		6	213	6	213	---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200587192	200587192	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:200587192G>T	ENST00000367350.4	-	2	1098	c.660C>A	c.(658-660)ccC>ccA	p.P220P		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	220	Required for PRC1-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GGGAAGCAATGGGTGGTCTAT	0.398																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(658-660)ccC>ccA		kinesin family member 14							144.0	148.0	147.0					1																	200587192		2203	4300	6503	SO:0001819	synonymous_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200587192G>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.660C>A	1.37:g.200587192G>T							p.P220P	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			2	1098	-			220			Required for PRC1-binding.		Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	c.660C>A	CCDS30963.1																																																																																				0.398	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		9	505	9	505	---	---	---	---
C1orf106	55765	broad.mit.edu	37	1	200880632	200880632	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:200880632C>A	ENST00000367342.4	+	9	1466	c.1266C>A	c.(1264-1266)ccC>ccA	p.P422P	C1orf106_ENST00000413687.2_Silent_p.P337P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	422										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCGCCTTTCCCCGCCGCCGCC	0.662																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1264-1266)ccC>ccA		chromosome 1 open reading frame 106							93.0	119.0	110.0					1																	200880632		2203	4300	6503	SO:0001819	synonymous_variant	55765							g.chr1:200880632C>A	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1266C>A	1.37:g.200880632C>A						C1orf106_ENST00000413687.2_Silent_p.P337P	p.P422P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			9	1466	+			422					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Silent	SNP	ENST00000367342.4	37	c.1266C>A																																																																																					0.662	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		6	239	6	239	---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202096908	202096908	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:202096908C>A	ENST00000367282.5	+	2	776	c.670C>A	c.(670-672)Ctg>Atg	p.L224M		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	224					negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTCTGTGCCCTGGGCATTGA	0.587																																						ENST00000367282.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(670-672)Ctg>Atg		G protein-coupled receptor 37 like 1							86.0	83.0	84.0					1																	202096908		2203	4300	6503	SO:0001583	missense	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202096908C>A	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.670C>A	1.37:g.202096908C>A	ENSP00000356251:p.Leu224Met						p.L224M	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			2	776	+								B2R7M9|Q5SXP7|Q86VP7	Missense_Mutation	SNP	ENST00000367282.5	37	c.670C>A	CCDS1420.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558312	0.65538	.	.	ENSG00000170075	ENST00000541334;ENST00000367282	T	0.72615	-0.67	5.09	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.078909	0.53938	D	0.000059	T	0.81148	0.4762	M	0.75085	2.285	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.81579	-0.0868	10	0.66056	D	0.02	-20.9524	8.3971	0.32564	0.0:0.7639:0.0:0.2361	.	224	O60883	ETBR2_HUMAN	M	91;224	ENSP00000356251:L224M	ENSP00000356251:L224M	L	+	1	2	GPR37L1	200363531	0.205000	0.23458	1.000000	0.80357	0.996000	0.88848	0.332000	0.19751	1.291000	0.44653	0.555000	0.69702	CTG		0.587	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		4	102	4	102	---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204380335	204380335	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:204380335G>T	ENST00000367188.4	-	1	584	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	69					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GCAAGGAGCTGGGAGAGCAGT	0.572																																						ENST00000367188.4																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(205-207)Cag>Aag		protein phosphatase 1, regulatory subunit 15B							67.0	73.0	71.0					1																	204380335		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204380335G>T	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.205C>A	1.37:g.204380335G>T	ENSP00000356156:p.Gln69Lys					RP11-739N20.2_ENST00000443515.1_RNA	p.Q69K	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	584	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		69					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.205C>A	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.994318	0.93167	.	.	ENSG00000158615	ENST00000367188	T	0.22134	1.97	5.22	5.22	0.72569	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	0.571651	0.14605	N	0.309387	T	0.25754	0.0627	L	0.59436	1.845	0.32790	N	0.501237	P	0.37914	0.611	B	0.36959	0.237	T	0.37663	-0.9696	10	0.66056	D	0.02	-3.0314	14.6287	0.68640	0.0:0.0:1.0:0.0	.	69	Q5SWA1	PR15B_HUMAN	K	69	ENSP00000356156:Q69K	ENSP00000356156:Q69K	Q	-	1	0	PPP1R15B	202646958	1.000000	0.71417	0.945000	0.38365	0.938000	0.57974	2.983000	0.49345	2.586000	0.87340	0.655000	0.94253	CAG		0.572	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		5	192	5	192	---	---	---	---
CD46	4179	broad.mit.edu	37	1	207959026	207959026	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:207959026G>T	ENST00000358170.2	+	12	1282	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	CD46_ENST00000469535.1_3'UTR|CD46_ENST00000441839.2_Intron|CD46_ENST00000357714.1_Splice_Site_p.G346W|CD46_ENST00000367041.1_Splice_Site_p.G346C|CD46_ENST00000361067.1_Splice_Site_p.G362W|CD46_ENST00000367042.1_Splice_Site_p.G361C|CD46_ENST00000322875.4_Splice_Site_p.G376W|CD46_ENST00000360212.2_Splice_Site_p.G332W|CD46_ENST00000322918.5_Intron|CD46_ENST00000354848.1_Splice_Site_p.G361W|CD46_ENST00000367047.1_Splice_Site_p.G313W|CD46_ENST00000480003.1_Splice_Site_p.G347W	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	376					adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GAAGAAGAAAGGGTAAATTAA	0.338																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(1126-1128)Ggc>Tgc		CD46 molecule, complement regulatory protein							203.0	209.0	207.0					1																	207959026		2203	4300	6503	SO:0001630	splice_region_variant	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207959026G>T	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.1127+1G>T	1.37:g.207959026G>T						CD46_ENST00000367042.1_Splice_Site_p.G361C|CD46_ENST00000360212.2_Splice_Site_p.G332W|CD46_ENST00000480003.1_Splice_Site_p.G347W|CD46_ENST00000367047.1_Splice_Site_p.G313W|CD46_ENST00000367041.1_Splice_Site_p.G346C|CD46_ENST00000322918.5_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Splice_Site_p.G361W|CD46_ENST00000361067.1_Splice_Site_p.G362W|CD46_ENST00000441839.2_Intron|CD46_ENST00000322875.4_Splice_Site_p.G376W|CD46_ENST00000357714.1_Splice_Site_p.G346W	p.G376C	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			12	1282	+			376					A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Splice_Site	SNP	ENST00000358170.2	37	c.1126G>T	CCDS1485.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.979058|3.979058	0.74360|0.74360	.|.	.|.	ENSG00000117335|ENSG00000117335	ENST00000358170;ENST00000367042;ENST00000367041|ENST00000354848;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T|T;T;T;T;T;T;T	0.51325|0.36878	1.04;0.71;1.31|1.31;1.28;1.31;1.28;1.25;1.35;1.23	4.23|4.23	-3.52|-3.52	0.04682|0.04682	.|.	2.671690|2.671690	0.01787|0.01787	N|N	0.032095|0.032095	T|T	0.39200|0.39200	0.1069|0.1069	N|N	0.19112|0.19112	0.55|0.55	0.18873|0.18873	N|N	0.999985|0.999985	D;D;D;D;D;D|D;D;D;D;D;D	0.89917|0.89917	1.0;1.0;1.0;1.0;1.0;1.0|1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D|D;D;D;D;D;D	0.91635|0.97110	0.98;0.98;0.999;0.999;0.98;0.997|0.998;0.998;0.998;1.0;0.998;0.998	T|T	0.36817|0.36817	-0.9732|-0.9732	10|10	0.87932|0.72032	D|D	0|0.01	.|.	1.6137|1.6137	0.02698|0.02698	0.4432:0.1403:0.2731:0.1433|0.4432:0.1403:0.2731:0.1433	.|.	347;346;362;361;332;376|346;362;361;376;332;347	P15529-14;P15529-12;P15529-13;P15529-11;P15529-15;P15529|P15529-4;P15529-5;P15529-3;P15529-2;P15529-7;P15529-6	.;.;.;.;.;MCP_HUMAN|.;.;.;.;.;.	C|W	376;361;346|361;346;376;313;362;332;347	ENSP00000350893:G376C;ENSP00000356009:G361C;ENSP00000356008:G346C|ENSP00000346912:G361W;ENSP00000350346:G346W;ENSP00000313875:G376W;ENSP00000356014:G313W;ENSP00000354358:G362W;ENSP00000353342:G332W;ENSP00000418471:G347W	ENSP00000350893:G376C|ENSP00000313875:G376W	G|G	+|+	1|1	0|0	CD46|CD46	206025649|206025649	0.224000|0.224000	0.23674|0.23674	0.062000|0.062000	0.19696|0.19696	0.972000|0.972000	0.66771|0.66771	-0.452000|-0.452000	0.06787|0.06787	-0.757000|-0.757000	0.04697|0.04697	0.591000|0.591000	0.81541|0.81541	GGC|GGG		0.338	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361	Missense_Mutation	6	360	6	360	---	---	---	---
GPATCH2	55105	broad.mit.edu	37	1	217604600	217604600	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:217604600C>A	ENST00000366935.3	-	10	1584	c.1474G>T	c.(1474-1476)Ggg>Tgg	p.G492W		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	492	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TCAGAGATCCCCTTGCCATCT	0.493																																						ENST00000366935.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35						c.(1474-1476)Ggg>Tgg		G patch domain containing 2							136.0	140.0	139.0					1																	217604600		2203	4300	6503	SO:0001583	missense	55105					intracellular	nucleic acid binding	g.chr1:217604600C>A	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1474G>T	1.37:g.217604600C>A	ENSP00000355902:p.Gly492Trp						p.G492W	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)	10	1584	-			492			G-patch.		Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	37	c.1474G>T	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938258	0.92526	.	.	ENSG00000092978	ENST00000366935	T	0.65732	-0.17	5.83	5.83	0.93111	D111/G-patch (3);	0.051236	0.85682	D	0.000000	D	0.89431	0.6713	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93546	0.6882	10	0.87932	D	0	.	20.111	0.97911	0.0:1.0:0.0:0.0	.	492	Q9NW75	GPTC2_HUMAN	W	492	ENSP00000355902:G492W	ENSP00000355902:G492W	G	-	1	0	GPATCH2	215671223	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.962000	0.76048	2.747000	0.94245	0.650000	0.86243	GGG		0.493	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040		7	349	7	349	---	---	---	---
BPNT1	10380	broad.mit.edu	37	1	220247316	220247316	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:220247316C>A	ENST00000469520.2	-	4	667	c.218G>T	c.(217-219)gGg>gTg	p.G73V	BPNT1_ENST00000544404.1_Missense_Mutation_p.G18V|BPNT1_ENST00000354807.3_Missense_Mutation_p.G73V|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000414869.2_Missense_Mutation_p.G73V|BPNT1_ENST00000322067.7_Missense_Mutation_p.G73V			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	73					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)		TACCTCTTCCCCTATAATTGT	0.388																																						ENST00000469520.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14						c.(217-219)gGg>gTg		3'(2'), 5'-bisphosphate nucleotidase 1							170.0	160.0	163.0					1																	220247316		1843	4098	5941	SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220247316C>A	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.218G>T	1.37:g.220247316C>A	ENSP00000446828:p.Gly73Val					BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000322067.7_Missense_Mutation_p.G73V|BPNT1_ENST00000354807.3_Missense_Mutation_p.G73V|BPNT1_ENST00000544404.1_Missense_Mutation_p.G18V|BPNT1_ENST00000414869.2_Missense_Mutation_p.G73V	p.G73V			O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	4	667	-			73					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	SNP	ENST00000469520.2	37	c.218G>T	CCDS41469.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755728	0.89843	.	.	ENSG00000162813	ENST00000322067;ENST00000469520;ENST00000354807;ENST00000302686;ENST00000544404;ENST00000414869;ENST00000463953;ENST00000498791;ENST00000480959;ENST00000498237	D;D;D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.95799	0.8633	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.96838	0.9616	10	0.87932	D	0	.	18.9654	0.92694	0.0:1.0:0.0:0.0	.	73;73;73	B4DUS9;A6NF51;O95861	.;.;BPNT1_HUMAN	V	73;73;73;73;18;73;73;73;18;73	ENSP00000318852:G73V;ENSP00000446828:G73V;ENSP00000346862:G73V;ENSP00000444398:G18V;ENSP00000410348:G73V;ENSP00000446953:G73V;ENSP00000446850:G73V;ENSP00000448740:G18V;ENSP00000449883:G73V	ENSP00000307087:G73V	G	-	2	0	BPNT1	218313939	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	6.734000	0.74801	2.579000	0.87056	0.644000	0.83932	GGG		0.388	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		9	384	9	384	---	---	---	---
LBR	3930	broad.mit.edu	37	1	225607004	225607004	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:225607004G>T	ENST00000338179.2	-	5	726	c.601C>A	c.(601-603)Ccc>Acc	p.P201T	LBR_ENST00000272163.4_Missense_Mutation_p.P201T|LBR_ENST00000487054.1_5'UTR	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	201					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GCCCGGATGGGGGTCACTTCA	0.498																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(601-603)Ccc>Acc		lamin B receptor							92.0	98.0	96.0					1																	225607004		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225607004G>T	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.601C>A	1.37:g.225607004G>T	ENSP00000339883:p.Pro201Thr					LBR_ENST00000272163.4_Missense_Mutation_p.P201T|LBR_ENST00000487054.1_5'UTR	p.P201T	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	5	726	-	Breast(184;0.165)		201			Nucleoplasmic (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.601C>A	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	G	1.520	-0.547173	0.04024	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080	D;D;T	0.97791	-4.54;-4.54;0.62	5.63	-4.7	0.03288	.	1.230090	0.05389	N	0.538688	D	0.90920	0.7146	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.84965	0.0879	10	0.10902	T	0.67	0.5813	1.1676	0.01819	0.2196:0.1775:0.3822:0.2206	.	201;201	C9JXK0;Q14739	.;LBR_HUMAN	T	201	ENSP00000272163:P201T;ENSP00000339883:P201T;ENSP00000388059:P201T	ENSP00000272163:P201T	P	-	1	0	LBR	223673627	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.822000	0.04448	-0.280000	0.09154	-0.258000	0.10820	CCC		0.498	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		6	169	6	169	---	---	---	---
TRIM11	81559	broad.mit.edu	37	1	228582614	228582614	+	Missense_Mutation	SNP	G	G	T	rs560022140		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:228582614G>T	ENST00000284551.6	-	6	1477	c.1199C>A	c.(1198-1200)cCa>cAa	p.P400Q	TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000493030.2_Missense_Mutation_p.P275Q	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	400	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCGCCTGGGTGGGTCCCGGAG	0.597																																						ENST00000493030.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18						c.(823-825)cCa>cAa		tripartite motif containing 11							72.0	79.0	77.0					1																	228582614		2203	4300	6503	SO:0001583	missense	81559				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr1:228582614G>T	AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.1199C>A	1.37:g.228582614G>T	ENSP00000284551:p.Pro400Gln					TRIM11_ENST00000460651.1_5'UTR|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000284551.6_Missense_Mutation_p.P400Q	p.P275Q			Q96F44	TRI11_HUMAN			5	4533	-		Prostate(94;0.0724)	400			B30.2/SPRY.		A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Missense_Mutation	SNP	ENST00000284551.6	37	c.824C>A	CCDS31048.1	.	.	.	.	.	.	.	.	.	.	G	11.25	1.582602	0.28180	.	.	ENSG00000154370	ENST00000284551	T	0.68181	-0.31	4.76	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.146501	0.32175	N	0.006475	T	0.76212	0.3956	M	0.69823	2.125	0.24055	N	0.996035	P;P	0.49307	0.835;0.922	P;P	0.58520	0.778;0.84	T	0.68697	-0.5340	10	0.52906	T	0.07	.	11.5454	0.50690	0.0:0.1812:0.8188:0.0	.	399;400	Q96F44-3;Q96F44	.;TRI11_HUMAN	Q	400	ENSP00000284551:P400Q	ENSP00000284551:P400Q	P	-	2	0	TRIM11	226649237	0.042000	0.20092	0.893000	0.35052	0.019000	0.09904	1.666000	0.37460	2.370000	0.80446	0.609000	0.83330	CCA		0.597	TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214		4	83	4	83	---	---	---	---
CAPN9	10753	broad.mit.edu	37	1	230933908	230933908	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:230933908G>T	ENST00000271971.2	+	19	2101	c.1988G>T	c.(1987-1989)cGg>cTg	p.R663L	CAPN9_ENST00000366666.2_Splice_Site_p.R600L|CAPN9_ENST00000480004.1_Intron|CAPN9_ENST00000354537.1_Splice_Site_p.R637L|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	663	Domain IV.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.R663L(1)|p.R637L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CTCCTATCAGGGGTGTTCCAG	0.502											OREG0014318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000354537.1																			2	Substitution - Missense(2)	p.R663L(1)|p.R637L(1)	lung(2)	autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1909-1911)cGg>cTg		calpain 9							170.0	178.0	176.0					1																	230933908		2203	4300	6503	SO:0001630	splice_region_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230933908G>T	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1988-1G>T	1.37:g.230933908G>T			OREG0014318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2346	CAPN9_ENST00000271971.2_Splice_Site_p.R663L|CAPN9_ENST00000366666.2_Splice_Site_p.R600L|CAPN9_ENST00000480004.1_Intron	p.R637L	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN			18	1992	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	663			Domain IV.		B1APS1|B1AQI0|Q9NS74	Splice_Site	SNP	ENST00000271971.2	37	c.1910G>T	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228852	0.79576	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.94758	-3.51;-3.51;-3.51	5.13	5.13	0.70059	EF-hand-like domain (1);	0.070065	0.64402	D	0.000014	D	0.97467	0.9171	M	0.88105	2.93	0.80722	D	1	D;D;D	0.67145	0.992;0.996;0.992	D;D;D	0.72982	0.93;0.979;0.953	D	0.97842	1.0269	9	.	.	.	.	15.8456	0.78887	0.0:0.0:1.0:0.0	.	600;637;663	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	L	663;637;600	ENSP00000271971:R663L;ENSP00000346538:R637L;ENSP00000355626:R600L	.	R	+	2	0	CAPN9	229000531	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	5.427000	0.66483	2.558000	0.86282	0.655000	0.94253	CGG		0.502	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615	Missense_Mutation	8	411	8	411	---	---	---	---
KIAA1804	84451	broad.mit.edu	37	1	233489601	233489601	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:233489601G>T	ENST00000366624.3	+	3	1296	c.1035G>T	c.(1033-1035)cgG>cgT	p.R345R	MLK4_ENST00000366623.3_Silent_p.R345R	NM_032435.2	NP_115811.2																					TCCCCTATCGGGGCATTGATG	0.512																																						ENST00000366624.3																			0											c.(1033-1035)cgG>cgT									108.0	101.0	104.0					1																	233489601		2203	4300	6503	SO:0001819	synonymous_variant	84451							g.chr1:233489601G>T																												ENST00000366624.3:c.1035G>T	1.37:g.233489601G>T						MLK4_ENST00000366623.3_Silent_p.R345R	p.R345R	NM_032435.2	NP_115811.2					3	1296	+									Silent	SNP	ENST00000366624.3	37	c.1035G>T	CCDS1598.1																																																																																				0.512	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			7	164	7	164	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235950607	235950607	+	Silent	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:235950607A>G	ENST00000389794.3	-	14	4929	c.4755T>C	c.(4753-4755)aaT>aaC	p.N1585N	LYST_ENST00000389793.2_Silent_p.N1585N|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1585					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGAGGAAAATATTCTCCTGTG	0.418																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4753-4755)aaT>aaC		lysosomal trafficking regulator							204.0	200.0	202.0					1																	235950607		2203	4300	6503	SO:0001819	synonymous_variant	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235950607A>G	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4755T>C	1.37:g.235950607A>G						LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.N1585N	p.N1585N			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		14	4929	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1585					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	ENST00000389794.3	37	c.4755T>C	CCDS31062.1																																																																																				0.418	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			7	457	7	457	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236746435	236746435	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:236746435C>A	ENST00000366582.3	-	18	2417	c.2303G>T	c.(2302-2304)tGg>tTg	p.W768L	HEATR1_ENST00000366581.2_Missense_Mutation_p.W768L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	768					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATAATGTGCCCACAGCTCCAC	0.413																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2302-2304)tGg>tTg		HEAT repeat containing 1							174.0	164.0	168.0					1																	236746435		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236746435C>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2303G>T	1.37:g.236746435C>A	ENSP00000355541:p.Trp768Leu					HEATR1_ENST00000366581.2_Missense_Mutation_p.W768L	p.W768L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		18	2417	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	768					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2303G>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435855	0.62955	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.03982	3.74;3.77	5.56	5.56	0.83823	Armadillo-type fold (1);	0.286884	0.35970	N	0.002870	T	0.04227	0.0117	L	0.38838	1.175	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.18681	-1.0329	10	0.02654	T	1	.	12.5998	0.56491	0.278:0.722:0.0:0.0	.	768;768	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	L	768	ENSP00000355541:W768L;ENSP00000355540:W768L	ENSP00000355540:W768L	W	-	2	0	HEATR1	234813058	1.000000	0.71417	0.997000	0.53966	0.530000	0.34684	3.957000	0.56730	2.607000	0.88179	0.655000	0.94253	TGG		0.413	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		7	441	7	441	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237060398	237060398	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:237060398G>T	ENST00000366577.5	+	32	4085	c.3691G>T	c.(3691-3693)Ggg>Tgg	p.G1231W	MTR_ENST00000535889.1_Missense_Mutation_p.G1180W|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1231	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTTTGCTGTGGGGAAGATTTC	0.408																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(3691-3693)Ggg>Tgg		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						144.0	146.0	146.0					1																	237060398		2203	4300	6503	SO:0001583	missense	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237060398G>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3691G>T	1.37:g.237060398G>T	ENSP00000355536:p.Gly1231Trp					MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Missense_Mutation_p.G1180W	p.G1231W	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	32	4085	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	1231			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Missense_Mutation	SNP	ENST00000366577.5	37	c.3691G>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.767668	0.90020	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	T;T;T	0.79653	-1.29;-1.29;-1.29	5.87	5.87	0.94306	Vitamin B12-dependent methionine synthase, activation domain (3);	0.000000	0.85682	D	0.000000	D	0.93164	0.7823	H	0.94306	3.52	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	0.94204	0.7452	10	0.87932	D	0	-20.6185	20.2191	0.98319	0.0:0.0:1.0:0.0	.	1231;1180;1231	B7ZLW8;B7ZLW7;Q99707	.;.;METH_HUMAN	W	1085;1231;1180;785	ENSP00000355536:G1231W;ENSP00000441845:G1180W;ENSP00000355535:G785W	ENSP00000355535:G785W	G	+	1	0	MTR	235127021	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.145000	0.94634	2.780000	0.95670	0.655000	0.94253	GGG		0.408	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		6	318	6	318	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237802315	237802315	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:237802315G>T	ENST00000366574.2	+	46	7246	c.6929G>T	c.(6928-6930)gGg>gTg	p.G2310V	RYR2_ENST00000360064.6_Splice_Site_p.G2308V|RYR2_ENST00000542537.1_Splice_Site_p.G2294V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2310	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTACTTTAGGGGAGAGTGTG	0.383																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6928-6930)gGg>gTg		ryanodine receptor 2 (cardiac)							116.0	112.0	113.0					1																	237802315		1869	4113	5982	SO:0001630	splice_region_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237802315G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6929-1G>T	1.37:g.237802315G>T						RYR2_ENST00000542537.1_Splice_Site_p.G2294V|RYR2_ENST00000360064.6_Splice_Site_p.G2308V	p.G2310V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		46	7246	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2310			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Splice_Site	SNP	ENST00000366574.2	37	c.6929G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175819	0.78564	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97016	-4.21;-4.21;-4.21	5.05	5.05	0.67936	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000004	D	0.97914	0.9314	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97957	1.0335	9	.	.	.	.	18.7649	0.91868	0.0:0.0:1.0:0.0	.	2310	Q92736	RYR2_HUMAN	V	2310;2308;2294	ENSP00000355533:G2310V;ENSP00000353174:G2308V;ENSP00000443798:G2294V	.	G	+	2	0	RYR2	235868938	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	9.675000	0.98638	2.498000	0.84270	0.561000	0.74099	GGG		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	Missense_Mutation	4	51	4	51	---	---	---	---
OR2G2	81470	broad.mit.edu	37	1	247751791	247751791	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:247751791G>T	ENST00000320065.1	+	1	130	c.130G>T	c.(130-132)Ggg>Tgg	p.G44W	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			AACTATTTTGGGGAATACCAC	0.408																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(130-132)Ggg>Tgg		olfactory receptor, family 2, subfamily G, member 2							233.0	221.0	225.0					1																	247751791		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751791G>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.130G>T	1.37:g.247751791G>T	ENSP00000326349:p.Gly44Trp					RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.G44W	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	130	+	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)		44					Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.130G>T	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.074904	0.55646	.	.	ENSG00000177489	ENST00000320065	T	0.04502	3.61	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33895	U	0.004451	T	0.29588	0.0738	H	0.94658	3.565	0.31286	N	0.690012	D	0.89917	1.0	D	0.97110	1.0	T	0.51568	-0.8689	10	0.87932	D	0	.	13.4253	0.61022	0.0:0.0:1.0:0.0	.	44	Q8NGZ5	OR2G2_HUMAN	W	44	ENSP00000326349:G44W	ENSP00000326349:G44W	G	+	1	0	OR2G2	245818414	0.240000	0.23847	0.651000	0.29564	0.869000	0.49853	3.552000	0.53705	1.968000	0.57251	0.591000	0.81541	GGG		0.408	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			8	444	8	444	---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248308964	248308964	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:248308964G>T	ENST00000366476.1	+	1	515	c.515G>T	c.(514-516)cGg>cTg	p.R172L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGTGGGTCTCGGGAAATAGCC	0.428																																						ENST00000366476.1																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(514-516)cGg>cTg		olfactory receptor, family 2, subfamily M, member 5							281.0	265.0	271.0					1																	248308964		2203	4298	6501	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308964G>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.515G>T	1.37:g.248308964G>T	ENSP00000355432:p.Arg172Leu						p.R172L	NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	515	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		172						Missense_Mutation	SNP	ENST00000366476.1	37	c.515G>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	14.23	2.474030	0.43942	.	.	ENSG00000162727	ENST00000366476	T	0.00115	8.71	3.28	-0.741	0.11112	GPCR, rhodopsin-like superfamily (1);	0.298455	0.18176	U	0.149296	T	0.00144	0.0004	L	0.58925	1.835	0.09310	N	1	B	0.17268	0.021	B	0.24394	0.053	T	0.44862	-0.9300	10	0.59425	D	0.04	.	2.3182	0.04204	0.3221:0.0:0.272:0.406	.	172	A3KFT3	OR2M5_HUMAN	L	172	ENSP00000355432:R172L	ENSP00000355432:R172L	R	+	2	0	OR2M5	246375587	0.000000	0.05858	0.004000	0.12327	0.873000	0.50193	1.125000	0.31332	0.031000	0.15407	0.492000	0.49549	CGG		0.428	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		9	676	9	676	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525150	248525150	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:248525150C>A	ENST00000366475.1	+	1	268	c.268C>A	c.(268-270)Ccc>Acc	p.P90T		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	90						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTCCACACCCCCATGTACTT	0.478																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(268-270)Ccc>Acc		olfactory receptor, family 2, subfamily T, member 4							486.0	325.0	379.0					1																	248525150		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525150C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.268C>A	1.37:g.248525150C>A	ENSP00000355431:p.Pro90Thr						p.P90T	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	268	+	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)		90					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.268C>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238084	0.58886	.	.	ENSG00000196944	ENST00000366475	T	0.02032	4.49	3.48	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.303615	0.23889	N	0.043565	T	0.14614	0.0353	H	0.94964	3.605	0.41156	D	0.986069	D	0.67145	0.996	D	0.65010	0.931	T	0.01961	-1.1239	10	0.87932	D	0	.	9.7162	0.40276	0.0:0.8928:0.0:0.1072	.	90	Q8NH00	OR2T4_HUMAN	T	90	ENSP00000355431:P90T	ENSP00000355431:P90T	P	+	1	0	OR2T4	246591773	0.999000	0.42202	0.886000	0.34754	0.697000	0.40408	4.710000	0.61873	1.469000	0.48083	0.485000	0.47835	CCC		0.478	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		8	501	8	501	---	---	---	---
CPSF3	51692	broad.mit.edu	37	2	9595849	9595849	+	Silent	SNP	C	C	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:9595849C>G	ENST00000238112.3	+	13	1772	c.1566C>G	c.(1564-1566)ccC>ccG	p.P522P	CPSF3_ENST00000460593.1_Silent_p.P485P	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	522					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.P522P(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATACTGGTCCCTTTAATTTGC	0.383																																					Colon(194;1259 2048 3845 5218 19985)	ENST00000460593.1																			1	Substitution - coding silent(1)	p.P522P(1)	prostate(1)	NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1453-1455)ccC>ccG		cleavage and polyadenylation specific factor 3, 73kDa							121.0	120.0	120.0					2																	9595849		2203	4300	6503	SO:0001819	synonymous_variant	51692				histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	g.chr2:9595849C>G	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1566C>G	2.37:g.9595849C>G						CPSF3_ENST00000238112.3_Silent_p.P522P	p.P485P			Q9UKF6	CPSF3_HUMAN		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)	13	2593	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)	522					O14769|Q53RS2|Q96F36	Silent	SNP	ENST00000238112.3	37	c.1455C>G	CCDS1664.1																																																																																				0.383	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206843.1	NM_016207		14	121	14	121	---	---	---	---
WDR35	57539	broad.mit.edu	37	2	20113344	20113344	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:20113344G>T	ENST00000345530.3	-	28	3636	c.3521C>A	c.(3520-3522)cCc>cAc	p.P1174H	WDR35_ENST00000281405.4_Missense_Mutation_p.P1163H|WDR35_ENST00000416055.2_3'UTR	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1174					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGGCATAAGGGGCAGAAGCT	0.398																																						ENST00000345530.3																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(3520-3522)cCc>cAc		WD repeat domain 35							168.0	158.0	162.0					2																	20113344		2203	4300	6503	SO:0001583	missense	57539							g.chr2:20113344G>T	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.3521C>A	2.37:g.20113344G>T	ENSP00000314444:p.Pro1174His					WDR35_ENST00000281405.4_Missense_Mutation_p.P1163H|WDR35_ENST00000416055.2_3'UTR	p.P1174H	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN			28	3636	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1174					B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	ENST00000345530.3	37	c.3521C>A	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676398	0.88445	.	.	ENSG00000118965	ENST00000345530;ENST00000281405	T;T	0.77229	-1.07;-1.08	5.65	5.65	0.86999	.	0.050998	0.85682	D	0.000000	D	0.90380	0.6989	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91415	0.5154	10	0.87932	D	0	-12.1853	19.0838	0.93194	0.0:0.0:1.0:0.0	.	1163;1174	Q9P2L0-2;Q9P2L0	.;WDR35_HUMAN	H	1174;1163	ENSP00000314444:P1174H;ENSP00000281405:P1163H	ENSP00000281405:P1163H	P	-	2	0	WDR35	19976825	1.000000	0.71417	0.966000	0.40874	0.825000	0.46686	9.410000	0.97335	2.833000	0.97629	0.655000	0.94253	CCC		0.398	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		6	336	6	336	---	---	---	---
CGREF1	10669	broad.mit.edu	37	2	27324218	27324218	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:27324218C>A	ENST00000260595.5	-	7	1122	c.830G>T	c.(829-831)gGg>gTg	p.G277V	CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.G294V|CGREF1_ENST00000402394.1_Missense_Mutation_p.G294V|CGREF1_ENST00000404694.3_Missense_Mutation_p.G416V|CGREF1_ENST00000312734.4_Missense_Mutation_p.G294V			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	277					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGTTTCCCCTGGAAGTTC	0.557																																						ENST00000402394.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10						c.(880-882)gGg>gTg		cell growth regulator with EF-hand domain 1							209.0	215.0	213.0					2																	27324218		2203	4300	6503	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324218C>A	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.830G>T	2.37:g.27324218C>A	ENSP00000260595:p.Gly277Val					CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.G277V|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.G294V|CGREF1_ENST00000404694.3_Missense_Mutation_p.G416V|CGREF1_ENST00000312734.4_Missense_Mutation_p.G294V	p.G294V	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN			6	1149	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		277					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.881G>T		.	.	.	.	.	.	.	.	.	.	C	11.18	1.563723	0.27915	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.77877	-1.06;-1.06;-1.06;-1.13;-1.12	5.41	2.56	0.30785	.	0.605300	0.16807	N	0.198717	T	0.60932	0.2307	.	.	.	0.09310	N	0.999998	P	0.43169	0.8	B	0.34180	0.177	T	0.53012	-0.8498	9	0.42905	T	0.14	-15.628	5.7757	0.18277	0.1399:0.6458:0.1355:0.0788	.	277	Q99674	CGRE1_HUMAN	V	294;294;277;294;416;277	ENSP00000385452:G294V;ENSP00000386113:G294V;ENSP00000324025:G294V;ENSP00000385574:G416V;ENSP00000260595:G277V	ENSP00000260595:G277V	G	-	2	0	CGREF1	27177722	0.000000	0.05858	0.055000	0.19348	0.342000	0.28953	-0.707000	0.05041	0.645000	0.30675	0.561000	0.74099	GGG		0.557	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		8	563	8	563	---	---	---	---
KRTCAP3	200634	broad.mit.edu	37	2	27666311	27666311	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:27666311G>T	ENST00000543753.1	+	5	574	c.527G>T	c.(526-528)gGg>gTg	p.G176V	KRTCAP3_ENST00000407293.1_Missense_Mutation_p.G158V|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.G176V	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	176						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					ATGTCTGCAGGGGAGGCTGCT	0.552																																						ENST00000543753.1																			0				large_intestine(1)|lung(2)	3						c.(526-528)gGg>gTg		keratinocyte associated protein 3							127.0	110.0	116.0					2																	27666311		2203	4300	6503	SO:0001583	missense	200634					integral to membrane		g.chr2:27666311G>T	AY157576	CCDS1754.1	2p23.3	2008-02-05			ENSG00000157992	ENSG00000157992			28943	protein-coding gene	gene with protein product							Standard	NM_173853		Approved	KCP3	uc002rks.3	Q53RY4	OTTHUMG00000097782	ENST00000543753.1:c.527G>T	2.37:g.27666311G>T	ENSP00000442400:p.Gly176Val					KRTCAP3_ENST00000288873.3_Missense_Mutation_p.G176V|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.G158V	p.G176V	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN			5	574	+	Acute lymphoblastic leukemia(172;0.155)		176					B7ZL49|Q6UW42|Q8IWS5	Missense_Mutation	SNP	ENST00000543753.1	37	c.527G>T	CCDS1754.1	.	.	.	.	.	.	.	.	.	.	G	5.632	0.301243	0.10678	.	.	ENSG00000157992	ENST00000543753;ENST00000288873;ENST00000407293	T;T;T	0.37235	1.21;1.21;1.21	5.83	1.72	0.24424	.	0.456748	0.25058	N	0.033471	T	0.11623	0.0283	N	0.01352	-0.895	0.19575	N	0.999964	B	0.02656	0.0	B	0.04013	0.001	T	0.23440	-1.0188	10	0.33940	T	0.23	-16.9571	6.9379	0.24476	0.0:0.5419:0.2691:0.1889	.	176	Q53RY4	KCP3_HUMAN	V	176;176;158	ENSP00000442400:G176V;ENSP00000288873:G176V;ENSP00000384689:G158V	ENSP00000288873:G176V	G	+	2	0	KRTCAP3	27519815	0.001000	0.12720	0.012000	0.15200	0.997000	0.91878	0.176000	0.16782	0.053000	0.16036	0.561000	0.74099	GGG		0.552	KRTCAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215025.1	NM_173853		5	162	5	162	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27688721	27688721	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:27688721C>A	ENST00000260570.3	-	17	1824	c.1721G>T	c.(1720-1722)gGg>gTg	p.G574V		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	574					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GGTCTTTCCCCCGCCCCGCTC	0.488																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(1720-1722)gGg>gTg		intraflagellar transport 172 homolog (Chlamydomonas)							332.0	324.0	326.0					2																	27688721		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27688721C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1721G>T	2.37:g.27688721C>A	ENSP00000260570:p.Gly574Val						p.G574V	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			17	1824	-	Acute lymphoblastic leukemia(172;0.155)		574					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.1721G>T	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409535	0.42715	.	.	ENSG00000138002	ENST00000260570	T	0.22336	1.96	5.48	2.72	0.32119	.	0.487586	0.24431	N	0.038584	T	0.16642	0.0400	L	0.46157	1.445	0.47308	D	0.999381	B	0.33266	0.404	B	0.31337	0.128	T	0.04693	-1.0933	10	0.72032	D	0.01	-7.6351	6.2864	0.21035	0.0:0.5761:0.0:0.4239	.	574	Q9UG01	IF172_HUMAN	V	574	ENSP00000260570:G574V	ENSP00000260570:G574V	G	-	2	0	IFT172	27542225	0.262000	0.24073	0.604000	0.28916	0.803000	0.45373	2.775000	0.47702	0.704000	0.31869	0.655000	0.94253	GGG		0.488	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		9	623	9	623	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27688726	27688726	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:27688726C>A	ENST00000260570.3	-	17	1819	c.1716G>T	c.(1714-1716)cgG>cgT	p.R572R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	572					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTCCCCCGCCCCGCTCCAGAC	0.488																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(1714-1716)cgG>cgT		intraflagellar transport 172 homolog (Chlamydomonas)							311.0	307.0	309.0					2																	27688726		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27688726C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1716G>T	2.37:g.27688726C>A							p.R572R	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN			17	1819	-	Acute lymphoblastic leukemia(172;0.155)		572					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.1716G>T	CCDS1755.1																																																																																				0.488	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		11	602	11	602	---	---	---	---
SLC30A6	55676	broad.mit.edu	37	2	32418958	32418958	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:32418958G>T	ENST00000282587.5	+	8	439	c.402G>T	c.(400-402)acG>acT	p.T134T	SLC30A6_ENST00000435660.1_Splice_Site_p.T134T|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000538303.1_Splice_Site_p.T105T|SLC30A6_ENST00000379343.2_Splice_Site_p.T174T|SLC30A6_ENST00000406369.1_Splice_Site_p.T60T	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	134					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTTTTTAGGGGAAGATTAT	0.358																																						ENST00000282587.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(400-402)acG>acT		solute carrier family 30 (zinc transporter), member 6							259.0	235.0	243.0					2																	32418958		2202	4300	6502	SO:0001630	splice_region_variant	55676					Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity	g.chr2:32418958G>T	AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"""Solute carriers"""	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.402-1G>T	2.37:g.32418958G>T						SLC30A6_ENST00000379343.2_Splice_Site_p.T174T|SLC30A6_ENST00000406369.1_Splice_Site_p.T60T|SLC30A6_ENST00000435660.1_Splice_Site_p.T134T|SLC30A6_ENST00000357055.3_5'UTR|SLC30A6_ENST00000538303.1_Splice_Site_p.T105T	p.T134T	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN			8	439	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		134					A5YM45|B7Z901|Q8N5C9|Q96NC3	Splice_Site	SNP	ENST00000282587.5	37	c.402G>T	CCDS1780.1																																																																																				0.358	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250254.2		Silent	6	312	6	312	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32474764	32474764	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:32474764G>T	ENST00000404025.2	-	5	2657	c.2169C>A	c.(2167-2169)ccC>ccA	p.P723P	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.P723P|NLRC4_ENST00000360906.5_Silent_p.P723P			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	723					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)					CTATGGTGAGGGGACTGGCTT	0.458																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2167-2169)ccC>ccA		NLR family, CARD domain containing 4							159.0	154.0	156.0					2																	32474764		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:32474764G>T	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.2169C>A	2.37:g.32474764G>T						NLRC4_ENST00000402280.1_Silent_p.P723P|NLRC4_ENST00000360906.5_Silent_p.P723P|NLRC4_ENST00000342905.6_Intron	p.P723P			Q9NPP4	NLRC4_HUMAN			5	2657	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		723					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.2169C>A	CCDS33174.1																																																																																				0.458	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		6	358	6	358	---	---	---	---
CDC42EP3	10602	broad.mit.edu	37	2	37873715	37873715	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:37873715G>T	ENST00000295324.3	-	2	1016	c.16C>A	c.(16-18)Cca>Aca	p.P6T	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	6					regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	cytoskeletal regulatory protein binding (GO:0005519)			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				AGGTAAATTGGGGTCTTGGCT	0.418																																						ENST00000295324.3																			0				endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11						c.(16-18)Cca>Aca		CDC42 effector protein (Rho GTPase binding) 3							143.0	152.0	149.0					2																	37873715		2202	4300	6502	SO:0001583	missense	10602				regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding	g.chr2:37873715G>T	AF094521	CCDS1791.1	2p21	2008-05-21			ENSG00000163171	ENSG00000163171			16943	protein-coding gene	gene with protein product		606133				9535835, 11035016	Standard	NM_001270436		Approved	CEP3, UB1, BORG2	uc031rnz.1	Q9UKI2	OTTHUMG00000100971	ENST00000295324.3:c.16C>A	2.37:g.37873715G>T	ENSP00000295324:p.Pro6Thr					AC006369.2_ENST00000419425.1_RNA	p.P6T	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.4	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN			2	1016	-		all_hematologic(82;0.172)	6					B2R8S0|O95353|Q9UQJ0	Missense_Mutation	SNP	ENST00000295324.3	37	c.16C>A	CCDS1791.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080399	0.76528	.	.	ENSG00000163171	ENST00000295324;ENST00000457889;ENST00000453555;ENST00000422687	T	0.39056	1.1	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67868	-0.5559	10	0.72032	D	0.01	.	17.7923	0.88558	0.0:0.0:1.0:0.0	.	6	Q9UKI2	BORG2_HUMAN	T	6	ENSP00000295324:P6T	ENSP00000295324:P6T	P	-	1	0	CDC42EP3	37727219	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	9.669000	0.98622	2.793000	0.96121	0.655000	0.94253	CCA		0.418	CDC42EP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218581.3	NM_006449		7	376	7	376	---	---	---	---
ATL2	64225	broad.mit.edu	37	2	38536592	38536592	+	Missense_Mutation	SNP	G	G	T	rs371444918		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:38536592G>T	ENST00000378954.4	-	9	1001	c.1000C>A	c.(1000-1002)Cct>Act	p.P334T	ATL2_ENST00000419554.2_Missense_Mutation_p.P334T|ATL2_ENST00000546051.1_Missense_Mutation_p.P163T|ATL2_ENST00000332337.4_Missense_Mutation_p.P316T|ATL2_ENST00000406122.1_Missense_Mutation_p.P163T|ATL2_ENST00000402054.1_Missense_Mutation_p.P163T|ATL2_ENST00000539122.1_Missense_Mutation_p.P163T|ATL2_ENST00000452935.2_Missense_Mutation_p.P316T	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	334	GB1/RHD3-type G.				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						AAATTTTCAGGGGCAAGCAGC	0.328																																						ENST00000378954.4																			0				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						c.(1000-1002)Cct>Act		atlastin GTPase 2							89.0	89.0	89.0					2																	38536592		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.chr2:38536592G>T		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.1000C>A	2.37:g.38536592G>T	ENSP00000368237:p.Pro334Thr					ATL2_ENST00000332337.4_Missense_Mutation_p.P316T|ATL2_ENST00000406122.1_Missense_Mutation_p.P163T|ATL2_ENST00000402054.1_Missense_Mutation_p.P163T|ATL2_ENST00000546051.1_Missense_Mutation_p.P163T|ATL2_ENST00000419554.2_Missense_Mutation_p.P334T|ATL2_ENST00000539122.1_Missense_Mutation_p.P163T|ATL2_ENST00000452935.2_Missense_Mutation_p.P316T	p.P334T	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN			9	1001	-			334					B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	ENST00000378954.4	37	c.1000C>A	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404269	0.83230	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051;ENST00000449130	D;D;D;D;D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.89;-2.16	6.17	6.17	0.99709	Guanylate-binding protein, N-terminal (1);	0.045464	0.85682	D	0.000000	D	0.96364	0.8814	M	0.82823	2.61	0.80722	D	1	D;P;P;P;B	0.71674	0.998;0.583;0.528;0.867;0.406	D;P;B;P;P	0.68483	0.958;0.454;0.325;0.689;0.51	D	0.95703	0.8751	10	0.56958	D	0.05	-16.431	19.8676	0.96824	0.0:0.0:1.0:0.0	.	163;316;316;334;334	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	T	334;163;163;163;316;334;316;163;152	ENSP00000368237:P334T;ENSP00000385446:P163T;ENSP00000384062:P163T;ENSP00000446192:P163T;ENSP00000333393:P316T;ENSP00000415336:P334T;ENSP00000390743:P316T;ENSP00000438938:P163T;ENSP00000409811:P152T	ENSP00000333393:P316T	P	-	1	0	ATL2	38390096	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.877000	0.87225	2.941000	0.99782	0.655000	0.94253	CCT		0.328	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219886.2	NM_022374		6	185	6	185	---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44100976	44100976	+	Missense_Mutation	SNP	G	G	T	rs376999484		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:44100976G>T	ENST00000272286.2	+	9	1352	c.1262G>T	c.(1261-1263)gGg>gTg	p.G421V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	421	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTCATCCATGGGGCGGAGGCC	0.537																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1261-1263)gGg>gTg		ATP-binding cassette, sub-family G (WHITE), member 8		G	VAL/GLY	0,4406		0,0,2203	203.0	201.0	201.0		1262	2.3	0.0	2		201	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCG8	NM_022437.2	109	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	probably-damaging	421/674	44100976	1,13005	2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44100976G>T	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1262G>T	2.37:g.44100976G>T	ENSP00000272286:p.Gly421Val						p.G421V	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			9	1352	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	421			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1262G>T	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859992	0.32884	0.0	1.16E-4	ENSG00000143921	ENST00000272286	T	0.69561	-0.41	5.16	2.28	0.28536	ABC-2 type transporter (1);	0.191677	0.56097	N	0.000033	T	0.73513	0.3596	M	0.68317	2.08	0.80722	D	1	P;D	0.53151	0.948;0.958	P;P	0.57846	0.628;0.828	T	0.69446	-0.5143	10	0.33141	T	0.24	.	11.7577	0.51884	0.0:0.2353:0.6357:0.129	.	420;421	Q9H221-2;Q9H221	.;ABCG8_HUMAN	V	421	ENSP00000272286:G421V	ENSP00000272286:G421V	G	+	2	0	ABCG8	43954480	1.000000	0.71417	0.015000	0.15790	0.541000	0.35023	5.077000	0.64419	0.172000	0.19760	0.561000	0.74099	GGG		0.537	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		7	463	7	463	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48018072	48018072	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:48018072C>A	ENST00000234420.5	+	2	419	c.267C>A	c.(265-267)gaC>gaA	p.D89E	MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Intron|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	89					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.D89E(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGTTGTGACTTCTCACCAG	0.433			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		4	Substitution - Missense(2)|Whole gene deletion(2)	p.0?(2)|p.D89E(2)	haematopoietic_and_lymphoid_tissue(2)|prostate(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(265-267)gaC>gaA	Mismatch excision repair (MMR)	mutS homolog 6							82.0	77.0	79.0					2																	48018072		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48018072C>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.267C>A	2.37:g.48018072C>A	ENSP00000234420:p.Asp89Glu					MSH6_ENST00000538136.1_5'UTR|MSH6_ENST00000540021.1_Intron|FBXO11_ENST00000405808.1_Intron	p.D89E	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		2	419	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)						B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.267C>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	5.680	0.310048	0.10733	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255	T	0.69685	-0.42	5.77	2.99	0.34606	PWWP (1);	0.444406	0.24143	N	0.041152	T	0.41305	0.1153	N	0.25094	0.71	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.003;0.003	T	0.14952	-1.0454	10	0.07325	T	0.83	-22.5109	3.0051	0.06026	0.1136:0.5165:0.1106:0.2593	.	89;89	P52701;P52701-2	MSH6_HUMAN;.	E	89;87;89	ENSP00000234420:D89E	ENSP00000234420:D89E	D	+	3	2	MSH6	47871576	0.991000	0.36638	1.000000	0.80357	0.992000	0.81027	0.129000	0.15830	0.791000	0.33826	0.557000	0.71058	GAC		0.433	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		5	201	5	201	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48026149	48026149	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:48026149C>A	ENST00000234420.5	+	4	1179	c.1027C>A	c.(1027-1029)Cct>Act	p.P343T	MSH6_ENST00000538136.1_Missense_Mutation_p.P41T|MSH6_ENST00000540021.1_Missense_Mutation_p.P213T|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	343					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTCTCTGCCCCTCAAAATTC	0.443			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(1027-1029)Cct>Act	Mismatch excision repair (MMR)	mutS homolog 6							110.0	116.0	114.0					2																	48026149		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48026149C>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.1027C>A	2.37:g.48026149C>A	ENSP00000234420:p.Pro343Thr					MSH6_ENST00000538136.1_Missense_Mutation_p.P41T|MSH6_ENST00000540021.1_Missense_Mutation_p.P213T|FBXO11_ENST00000405808.1_Intron	p.P343T	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	1179	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)						B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.1027C>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803347	0.31869	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.87029	-1.9;-2.03;-2.2	4.41	1.39	0.22231	.	0.180321	0.49916	D	0.000133	D	0.82802	0.5116	M	0.68952	2.095	0.80722	D	1	B;B;B	0.15930	0.015;0.008;0.006	B;B;B	0.19391	0.003;0.021;0.025	T	0.76623	-0.2891	10	0.59425	D	0.04	-9.3421	6.0806	0.19938	0.1383:0.6528:0.1335:0.0754	.	213;343;343	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	T	343;341;213;41	ENSP00000234420:P343T;ENSP00000446475:P213T;ENSP00000438580:P41T	ENSP00000234420:P343T	P	+	1	0	MSH6	47879653	0.965000	0.33210	0.996000	0.52242	0.338000	0.28826	2.281000	0.43452	0.478000	0.27488	-0.150000	0.13652	CCT		0.443	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		6	260	6	260	---	---	---	---
MSH6	2956	broad.mit.edu	37	2	48027463	48027463	+	Missense_Mutation	SNP	C	C	A	rs587779235		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:48027463C>A	ENST00000234420.5	+	4	2493	c.2341C>A	c.(2341-2343)Cca>Aca	p.P781T	MSH6_ENST00000538136.1_Missense_Mutation_p.P479T|MSH6_ENST00000540021.1_Missense_Mutation_p.P651T|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	781					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)|p.P781T(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTTTGTGCCCCACTCTGTAA	0.433			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.5			yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		3	Whole gene deletion(2)|Substitution - Missense(1)	p.0?(2)|p.P781T(1)	haematopoietic_and_lymphoid_tissue(2)|lung(1)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229						c.(2341-2343)Cca>Aca	Mismatch excision repair (MMR)	mutS homolog 6							147.0	144.0	145.0					2																	48027463		2203	4300	6503	SO:0001583	missense	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48027463C>A	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2341C>A	2.37:g.48027463C>A	ENSP00000234420:p.Pro781Thr					MSH6_ENST00000538136.1_Missense_Mutation_p.P479T|MSH6_ENST00000540021.1_Missense_Mutation_p.P651T|FBXO11_ENST00000405808.1_Intron	p.P781T	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	2493	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)						B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	ENST00000234420.5	37	c.2341C>A	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393267	0.62066	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000540021;ENST00000538136	D;D;D	0.99264	-5.65;-5.65;-5.65	5.54	4.63	0.57726	DNA mismatch repair protein MutS, core (3);	0.094859	0.85682	D	0.000000	D	0.99563	0.9843	H	0.94503	3.545	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	0.97885	1.0294	10	0.87932	D	0	-4.5578	15.7962	0.78412	0.1365:0.8635:0.0:0.0	.	651;781;781	B4DF41;P52701;P52701-2	.;MSH6_HUMAN;.	T	781;779;651;479	ENSP00000234420:P781T;ENSP00000446475:P651T;ENSP00000438580:P479T	ENSP00000234420:P781T	P	+	1	0	MSH6	47880967	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.761000	0.85260	2.609000	0.88269	0.460000	0.39030	CCA		0.433	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179		7	428	7	428	---	---	---	---
REL	5966	broad.mit.edu	37	2	61118892	61118892	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:61118892G>T	ENST00000295025.8	+	2	405	c.85G>T	c.(85-87)Ggg>Tgg	p.G29W	REL_ENST00000394479.3_Missense_Mutation_p.G29W	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	29	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	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 transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CAAATGTGAAGGGCGATCAGC	0.453			A		Hodgkin Lymphoma																																	ENST00000295025.8				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(85-87)Ggg>Tgg		v-rel avian reticuloendotheliosis viral oncogene homolog							182.0	165.0	171.0					2																	61118892		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61118892G>T	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.85G>T	2.37:g.61118892G>T	ENSP00000295025:p.Gly29Trp					REL_ENST00000394479.3_Missense_Mutation_p.G29W	p.G29W	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		2	405	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)				RHD.		Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.85G>T	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	31	5.070885	0.93950	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.59224	0.28;0.28	5.61	5.61	0.85477	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.83257	0.5215	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87240	0.2266	10	0.87932	D	0	-19.7816	19.6332	0.95719	0.0:0.0:1.0:0.0	.	29;29	Q17RU2;Q04864	.;REL_HUMAN	W	29	ENSP00000295025:G29W;ENSP00000377989:G29W	ENSP00000295025:G29W	G	+	1	0	REL	60972396	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.863000	0.99569	2.642000	0.89623	0.650000	0.86243	GGG		0.453	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		5	211	5	211	---	---	---	---
REL	5966	broad.mit.edu	37	2	61148946	61148946	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:61148946G>T	ENST00000295025.8	+	11	1456	c.1136G>T	c.(1135-1137)gGg>gTg	p.G379V	REL_ENST00000394479.3_Missense_Mutation_p.G347V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	379					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	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 transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ATGCCTACAGGGGTTTCAAGT	0.408			A		Hodgkin Lymphoma																																	ENST00000295025.8				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1135-1137)gGg>gTg		v-rel avian reticuloendotheliosis viral oncogene homolog							94.0	94.0	94.0					2																	61148946		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61148946G>T	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1136G>T	2.37:g.61148946G>T	ENSP00000295025:p.Gly379Val					REL_ENST00000394479.3_Missense_Mutation_p.G347V	p.G379V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		11	1456	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)						Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.1136G>T	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052604	0.36181	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.49432	0.78;0.92	4.87	3.03	0.35002	.	2.402220	0.01687	N	0.026453	T	0.53302	0.1788	L	0.29908	0.895	0.40496	D	0.980593	D;D	0.76494	0.999;0.993	D;P	0.68353	0.957;0.855	T	0.59456	-0.7451	10	0.16896	T	0.51	-29.0106	4.7449	0.13033	0.1891:0.0:0.6407:0.1702	.	347;379	Q17RU2;Q04864	.;REL_HUMAN	V	379;347	ENSP00000295025:G379V;ENSP00000377989:G347V	ENSP00000295025:G379V	G	+	2	0	REL	61002450	0.034000	0.19679	0.084000	0.20598	0.861000	0.49209	0.833000	0.27504	1.055000	0.40461	0.650000	0.86243	GGG		0.408	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		6	228	6	228	---	---	---	---
B3GNT2	10678	broad.mit.edu	37	2	62449806	62449806	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:62449806C>A	ENST00000301998.4	+	2	703	c.451C>A	c.(451-453)Ctc>Atc	p.L151I	B3GNT2_ENST00000405767.1_Missense_Mutation_p.L151I	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	151					axon guidance (GO:0007411)|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)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GATTAAGTCCCTCACTCCACA	0.498																																						ENST00000301998.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(451-453)Ctc>Atc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2							81.0	88.0	86.0					2																	62449806		2203	4300	6503	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62449806C>A	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.451C>A	2.37:g.62449806C>A	ENSP00000305595:p.Leu151Ile					B3GNT2_ENST00000405767.1_Missense_Mutation_p.L151I	p.L151I	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		2	703	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		151					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.451C>A	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367660	0.61513	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.27104	1.69;1.69	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.43411	0.1246	L	0.58428	1.81	0.58432	D	0.999998	D	0.69078	0.997	D	0.63703	0.917	T	0.09335	-1.0679	10	0.37606	T	0.19	.	13.1886	0.59697	0.0:0.9276:0.0:0.0724	.	151	Q9NY97	B3GN2_HUMAN	I	151	ENSP00000305595:L151I;ENSP00000384692:L151I	ENSP00000305595:L151I	L	+	1	0	B3GNT2	62303310	0.996000	0.38824	1.000000	0.80357	0.981000	0.71138	3.283000	0.51701	2.716000	0.92895	0.655000	0.94253	CTC		0.498	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577		6	228	6	228	---	---	---	---
PROKR1	10887	broad.mit.edu	37	2	68882252	68882252	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:68882252G>T	ENST00000303786.3	+	3	1146	c.726G>T	c.(724-726)gtG>gtT	p.V242V	PROKR1_ENST00000394342.2_Silent_p.V242V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	242					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)	p.V242V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGAATTCGTGGGCCCCGTGG	0.557																																						ENST00000303786.3																			1	Substitution - coding silent(1)	p.V242V(1)	prostate(1)	endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(724-726)gtG>gtT		prokineticin receptor 1							99.0	95.0	97.0					2																	68882252		2203	4300	6503	SO:0001819	synonymous_variant	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882252G>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.726G>T	2.37:g.68882252G>T						PROKR1_ENST00000394342.2_Silent_p.V242V	p.V242V			Q8TCW9	PKR1_HUMAN			3	1146	+			242					A5JUU2|Q53QT9|Q8NFJ7	Silent	SNP	ENST00000303786.3	37	c.726G>T	CCDS1889.1																																																																																				0.557	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			32	86	32	86	---	---	---	---
GFPT1	2673	broad.mit.edu	37	2	69554133	69554133	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:69554133G>T	ENST00000357308.4	-	19	2146	c.1968C>A	c.(1966-1968)ccC>ccA	p.P656P	GFPT1_ENST00000361060.5_Silent_p.P638P	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	656	Isomerase.|SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|circadian regulation of gene expression (GO:0032922)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glucosamine biosynthetic process (GO:0006042)|glutamine metabolic process (GO:0006541)|negative regulation of glycogen biosynthetic process (GO:0045719)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|protein N-linked glycosylation via asparagine (GO:0018279)|response to sucrose (GO:0009744)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CCACTGAGTGGGGCACCTTGA	0.473																																						ENST00000357308.4																			0				endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						c.(1966-1968)ccC>ccA		glutamine--fructose-6-phosphate transaminase 1							170.0	137.0	148.0					2																	69554133		2203	4300	6503	SO:0001819	synonymous_variant	2673				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr2:69554133G>T		CCDS33216.1, CCDS58713.1	2p13	2014-09-17	2010-05-11		ENSG00000198380	ENSG00000198380	2.6.1.16		4241	protein-coding gene	gene with protein product		138292	"""glutamine-fructose-6-phosphate transaminase 1"""	GFPT		1460020	Standard	NM_002056		Approved	GFAT, GFA, GFAT1	uc002sfi.2	Q06210	OTTHUMG00000152666	ENST00000357308.4:c.1968C>A	2.37:g.69554133G>T						GFPT1_ENST00000361060.5_Silent_p.P638P	p.P656P	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN			19	2146	-			656			SIS 2.		Q53QE6|Q9BXF8	Silent	SNP	ENST00000357308.4	37	c.1968C>A	CCDS58713.1																																																																																				0.473	GFPT1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				5	171	5	171	---	---	---	---
SNRNP27	11017	broad.mit.edu	37	2	70122252	70122252	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:70122252C>A	ENST00000244227.3	+	2	486	c.61C>A	c.(61-63)Cgg>Agg	p.R21R	SNRNP27_ENST00000409116.1_Silent_p.R21R	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	21	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.R21W(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GTCCACATCCCGGGAGAGAGA	0.562																																						ENST00000244227.3																			1	Substitution - Missense(1)	p.R21W(1)	kidney(1)	cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(61-63)Cgg>Agg		small nuclear ribonucleoprotein 27kDa (U4/U6.U5)							91.0	103.0	99.0					2																	70122252		2203	4300	6503	SO:0001819	synonymous_variant	11017				mRNA processing|RNA splicing	nucleus	nucleic acid binding	g.chr2:70122252C>A	X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.61C>A	2.37:g.70122252C>A						SNRNP27_ENST00000409116.1_Silent_p.R21R	p.R21R	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN			2	486	+			21			Arg-rich.		Q15410	Silent	SNP	ENST00000244227.3	37	c.61C>A	CCDS33219.1																																																																																				0.562	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327369.1	NM_006857		6	273	6	273	---	---	---	---
SNRPG	6637	broad.mit.edu	37	2	70515272	70515272	+	Silent	SNP	G	G	T	rs371683189		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:70515272G>T	ENST00000272348.2	-	3	229	c.108C>A	c.(106-108)ccC>ccA	p.P36P	SNRPG_ENST00000449935.2_Silent_p.P24P|SNRPG_ENST00000482975.2_Silent_p.P24P|SNRPG_ENST00000438261.1_Silent_p.P24P|SNRPG_ENST00000454893.1_Silent_p.P36P|SNRPG_ENST00000413456.2_Silent_p.P28P|SNRPG_ENST00000429728.1_5'UTR	NM_003096.2	NP_003087.1	P62308	RUXG_HUMAN	small nuclear ribonucleoprotein polypeptide G	36					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 complex assembly (GO:0000245)|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)|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)	poly(A) RNA binding (GO:0044822)			endometrium(1)	1						GGTTCATAAAGGGATCAAATC	0.368																																					NSCLC(57;761 1258 15082 39958 48415)	ENST00000482975.2																			0				endometrium(1)	1						c.(70-72)ccC>ccA		small nuclear ribonucleoprotein polypeptide G							79.0	80.0	79.0					2																	70515272		2203	4297	6500	SO:0001819	synonymous_variant	6637				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr2:70515272G>T	X85373	CCDS1903.1	2p13.3	2011-10-11			ENSG00000143977	ENSG00000143977			11163	protein-coding gene	gene with protein product		603542				7744013	Standard	NM_003096		Approved	Sm-G	uc002sgp.3	P62308	OTTHUMG00000129670	ENST00000272348.2:c.108C>A	2.37:g.70515272G>T						SNRPG_ENST00000413456.2_Silent_p.P28P|SNRPG_ENST00000449935.2_Silent_p.P24P|SNRPG_ENST00000454893.1_Silent_p.P36P|SNRPG_ENST00000429728.1_5'UTR|SNRPG_ENST00000438261.1_Silent_p.P24P|SNRPG_ENST00000272348.2_Silent_p.P36P	p.P24P			P62308	RUXG_HUMAN			3	839	-			36					D6W5G6|Q15357|Q6IB86	Silent	SNP	ENST00000272348.2	37	c.72C>A	CCDS1903.1																																																																																				0.368	SNRPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251871.2			5	172	5	172	---	---	---	---
MOGS	7841	broad.mit.edu	37	2	74690103	74690103	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:74690103G>T	ENST00000233616.4	-	4	975	c.813C>A	c.(811-813)ccC>ccA	p.P271P	MOGS_ENST00000409065.1_Missense_Mutation_p.P208H|MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000535045.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.P165P	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	271					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTGTCAGCAGGGGCAGTCCTG	0.517																																						ENST00000409065.1																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(622-624)cCc>cAc		mannosyl-oligosaccharide glucosidase							101.0	109.0	107.0					2																	74690103		2004	4188	6192	SO:0001819	synonymous_variant	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74690103G>T	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.813C>A	2.37:g.74690103G>T						MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000233616.4_Silent_p.P271P|MOGS_ENST00000452063.2_Silent_p.P165P|MOGS_ENST00000535045.1_3'UTR	p.P208H			Q13724	MOGS_HUMAN			4	760	-			0					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.623C>A	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	G	5.195	0.221605	0.09863	.	.	ENSG00000115275	ENST00000409065	.	.	.	4.7	-5.42	0.02640	.	0.276731	0.34986	N	0.003530	T	0.45196	0.1330	.	.	.	0.36554	D	0.872005	.	.	.	.	.	.	T	0.49123	-0.8972	6	0.87932	D	0	-10.6857	1.56	0.02593	0.2085:0.1048:0.2595:0.4271	.	.	.	.	H	208	.	ENSP00000386493:P208H	P	-	2	0	MOGS	74543611	0.044000	0.20184	0.689000	0.30133	0.986000	0.74619	-1.025000	0.03600	-1.003000	0.03425	-0.895000	0.02911	CCC		0.517	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		9	323	9	323	---	---	---	---
SEMA4C	54910	broad.mit.edu	37	2	97530119	97530119	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:97530119C>A	ENST00000305476.5	-	10	1095	c.963G>T	c.(961-963)tgG>tgT	p.W321C		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	321	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						ACATGTCACCCCTGTCACAGC	0.582																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(961-963)tgG>tgT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							76.0	78.0	78.0					2																	97530119		2203	4300	6503	SO:0001630	splice_region_variant	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97530119C>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.963-1G>T	2.37:g.97530119C>A							p.W321C	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			10	1095	-			321			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Splice_Site	SNP	ENST00000305476.5	37	c.963G>T	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131853	0.37630	.	.	ENSG00000168758	ENST00000305476	T	0.32515	1.45	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.136293	0.56097	D	0.000025	T	0.60143	0.2246	M	0.87682	2.9	0.80722	D	1	D;D	0.60575	0.965;0.988	P;D	0.64410	0.819;0.925	T	0.65717	-0.6100	10	0.49607	T	0.09	.	17.4894	0.87699	0.0:1.0:0.0:0.0	.	321;31	Q9C0C4;Q6P5A5	SEM4C_HUMAN;.	C	321	ENSP00000306844:W321C	ENSP00000306844:W321C	W	-	3	0	SEMA4C	96893846	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	5.895000	0.69814	2.413000	0.81919	0.561000	0.74099	TGG		0.582	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789	Missense_Mutation	5	172	5	172	---	---	---	---
SEMA4C	54910	broad.mit.edu	37	2	97531227	97531227	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:97531227C>A	ENST00000305476.5	-	6	600	c.468G>T	c.(466-468)aaG>aaT	p.K156N		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	156	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GACACTTGCCCTTCCCATCTT	0.567																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(466-468)aaG>aaT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							91.0	81.0	84.0					2																	97531227		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97531227C>A	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.468G>T	2.37:g.97531227C>A	ENSP00000306844:p.Lys156Asn						p.K156N	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			6	600	-			156			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.468G>T	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309444	0.81247	.	.	ENSG00000168758	ENST00000305476;ENST00000442264	T;T	0.11930	2.73;2.73	5.4	5.4	0.78164	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.099987	0.64402	D	0.000003	T	0.37892	0.1020	M	0.78801	2.425	0.80722	D	1	P	0.46912	0.886	P	0.58928	0.848	T	0.13442	-1.0509	10	0.87932	D	0	.	17.9386	0.89020	0.0:1.0:0.0:0.0	.	156	Q9C0C4	SEM4C_HUMAN	N	156	ENSP00000306844:K156N;ENSP00000393498:K156N	ENSP00000306844:K156N	K	-	3	2	SEMA4C	96894954	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	1.475000	0.35409	2.523000	0.85059	0.448000	0.29417	AAG		0.567	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		6	96	6	96	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103141515	103141515	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:103141515C>A	ENST00000295269.4	+	10	2308	c.1851C>A	c.(1849-1851)ccC>ccA	p.P617P		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	617					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCTCAAACCCCAAACAAGTG	0.498																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1849-1851)ccC>ccA		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							185.0	198.0	193.0					2																	103141515		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141515C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1851C>A	2.37:g.103141515C>A							p.P617P	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			10	2308	+			617					Q69YK0	Silent	SNP	ENST00000295269.4	37	c.1851C>A	CCDS33264.1																																																																																				0.498	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		7	447	7	447	---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103148815	103148815	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:103148815C>A	ENST00000295269.4	+	12	2522	c.2065C>A	c.(2065-2067)Cca>Aca	p.P689T		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	689					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCAGGATCCCCATCCATCAC	0.458																																						ENST00000295269.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2065-2067)Cca>Aca		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							104.0	105.0	105.0					2																	103148815		2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103148815C>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2065C>A	2.37:g.103148815C>A	ENSP00000295269:p.Pro689Thr						p.P689T	NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			12	2522	+			689					Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.2065C>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	C	4.506	0.093954	0.08632	.	.	ENSG00000180251	ENST00000295269	T	0.41400	1.0	4.9	2.92	0.33932	.	0.335659	0.23746	N	0.044962	T	0.22551	0.0544	L	0.27053	0.805	0.09310	N	1	B	0.17038	0.02	B	0.14578	0.011	T	0.17440	-1.0369	10	0.09843	T	0.71	.	5.203	0.15275	0.0:0.614:0.1695:0.2165	.	689	Q6AI14	SL9A4_HUMAN	T	689	ENSP00000295269:P689T	ENSP00000295269:P689T	P	+	1	0	SLC9A4	102515247	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.278000	0.18753	1.063000	0.40649	0.655000	0.94253	CCA		0.458	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		6	199	6	199	---	---	---	---
SULT1C4	27233	broad.mit.edu	37	2	108998896	108998896	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:108998896C>A	ENST00000272452.2	+	3	677	c.351C>A	c.(349-351)ccC>ccA	p.P117P	SULT1C4_ENST00000409309.3_Intron	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	117					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.P117P(1)		endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CACATCTTCCCTTTCACTTGC	0.388																																						ENST00000272452.2																			1	Substitution - coding silent(1)	p.P117P(1)	lung(1)	endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						c.(349-351)ccC>ccA		sulfotransferase family, cytosolic, 1C, member 4							239.0	224.0	229.0					2																	108998896		2203	4300	6503	SO:0001819	synonymous_variant	27233				3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity	g.chr2:108998896C>A	AF055584	CCDS2077.1	2q12.3	2008-09-04	2007-03-16	2007-03-16	ENSG00000198075	ENSG00000198075		"""Sulfotransferases, cytosolic"""	11457	protein-coding gene	gene with protein product		608357	"""sulfotransferase family, cytosolic, 1C, member 2"""	SULT1C2		10783263, 9852044	Standard	NM_006588		Approved	SULT1C	uc002tea.1	O75897	OTTHUMG00000130958	ENST00000272452.2:c.351C>A	2.37:g.108998896C>A						SULT1C4_ENST00000409309.3_Intron	p.P117P	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN			3	677	+			117					Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000272452.2	37	c.351C>A	CCDS2077.1																																																																																				0.388	SULT1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253561.1	NM_006588		7	473	7	473	---	---	---	---
DDX18	8886	broad.mit.edu	37	2	118577355	118577355	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:118577355C>A	ENST00000263239.2	+	3	629	c.501C>A	c.(499-501)ccC>ccA	p.P167P	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	167					ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCAGTCTGCCCCTGGGACTGA	0.423																																						ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(499-501)ccC>ccA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							76.0	77.0	76.0					2																	118577355		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118577355C>A	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.501C>A	2.37:g.118577355C>A						DDX18_ENST00000474694.1_3'UTR	p.P167P	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			3	629	+			167					Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.501C>A	CCDS2120.1																																																																																				0.423	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773		4	80	4	80	---	---	---	---
GPR17	2840	broad.mit.edu	37	2	128408804	128408804	+	Silent	SNP	G	G	A	rs374867696		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:128408804G>A	ENST00000272644.3	+	3	653	c.579G>A	c.(577-579)ccG>ccA	p.P193P	LIMS2_ENST00000410038.1_5'Flank|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000544369.1_Silent_p.P193P|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409254.1_5'Flank|GPR17_ENST00000393018.3_Silent_p.P193P|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000410011.1_Intron	NM_001161416.1|NM_001161417.1|NM_005291.2	NP_001154888.1|NP_001154889.1|NP_005282.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	193					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)	p.P193P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCATGGCCCCGCTGCTGGTGA	0.667																																						ENST00000544369.1																			1	Substitution - coding silent(1)	p.P193P(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19						c.(577-579)ccG>ccA		G protein-coupled receptor 17		G	,,,,,,,	0,4406		0,0,2203	92.0	86.0	88.0		,,,579,495,495,579,	-10.9	0.7	2		88	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	GPR17,LIMS2	NM_001136037.2,NM_001161403.1,NM_001161404.1,NM_001161415.1,NM_001161416.1,NM_001161417.1,NM_005291.2,NM_017980.4	,,,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,	,,,193/368,165/340,165/340,193/368,	128408804	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2840					integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr2:128408804G>A		CCDS2148.1	2q21	2014-01-30			ENSG00000144230	ENSG00000144230		"""GPCR / Class A : Orphans"""	4471	protein-coding gene	gene with protein product		603071				8558062	Standard	NM_001161415		Approved		uc002tpc.3	Q13304	OTTHUMG00000131533	ENST00000272644.3:c.579G>A	2.37:g.128408804G>A						LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Silent_p.P193P|LIMS2_ENST00000324938.5_Intron|GPR17_ENST00000272644.3_Silent_p.P193P|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000545738.2_Intron	p.P193P	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0677)	4	1190	+	Colorectal(110;0.1)	Ovarian(717;0.15)	193					A8K9L0|B2R9X0|Q8N5S7|Q9UDZ6|Q9UE21	Silent	SNP	ENST00000272644.3	37	c.579G>A	CCDS2148.1																																																																																				0.667	GPR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254390.1			45	106	45	106	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128467377	128467377	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:128467377C>A	ENST00000322313.4	-	19	3520	c.3362G>T	c.(3361-3363)aGg>aTg	p.R1121M		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1121					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		AAAACCATCCCTTCCTCTGGG	0.557																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(3361-3363)aGg>aTg		WD repeat domain 33							104.0	119.0	114.0					2																	128467377		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128467377C>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3362G>T	2.37:g.128467377C>A	ENSP00000325377:p.Arg1121Met						p.R1121M	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	19	3520	-	Colorectal(110;0.1)		1121					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.3362G>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265324	0.80358	.	.	ENSG00000136709	ENST00000322313	D	0.91124	-2.79	5.32	5.32	0.75619	.	0.155521	0.52532	D	0.000078	D	0.91324	0.7264	N	0.19112	0.55	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	D	0.90914	0.4778	10	0.34782	T	0.22	-12.1176	18.9833	0.92762	0.0:1.0:0.0:0.0	.	1121	Q9C0J8	WDR33_HUMAN	M	1121	ENSP00000325377:R1121M	ENSP00000325377:R1121M	R	-	2	0	WDR33	128183847	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.359000	0.66074	2.493000	0.84123	0.561000	0.74099	AGG		0.557	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		6	380	6	380	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133541067	133541067	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:133541067C>A	ENST00000409261.1	-	14	3690	c.3317G>T	c.(3316-3318)gGg>gTg	p.G1106V	NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1106V|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1106	Ser-rich.									NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCATTTACCCCTAAGAAGGA	0.498																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3316-3318)gGg>gTg		NCK-associated protein 5							219.0	233.0	228.0					2																	133541067		2062	4204	6266	SO:0001583	missense	344148						protein binding	g.chr2:133541067C>A	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3317G>T	2.37:g.133541067C>A	ENSP00000387128:p.Gly1106Val					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1106V|NCKAP5_ENST00000405974.3_Intron	p.G1106V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3690	-			1106			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3317G>T	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.245924	0.22796	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.11169	2.8;2.8	5.41	3.58	0.41010	.	0.478549	0.15584	U	0.254750	T	0.08891	0.0220	L	0.27053	0.805	0.21473	N	0.999675	P	0.49090	0.919	B	0.43575	0.424	T	0.18272	-1.0342	10	0.45353	T	0.12	.	8.2267	0.31572	0.1547:0.7668:0.0:0.0784	.	1106	O14513	NCKP5_HUMAN	V	1106	ENSP00000387128:G1106V;ENSP00000380603:G1106V	ENSP00000380603:G1106V	G	-	2	0	NCKAP5	133257537	0.004000	0.15560	0.060000	0.19600	0.189000	0.23516	0.788000	0.26872	0.826000	0.34661	0.655000	0.94253	GGG		0.498	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		8	465	8	465	---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	136026567	136026567	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:136026567G>T	ENST00000264159.6	-	11	1467	c.1351C>A	c.(1351-1353)Cta>Ata	p.L451I	ZRANB3_ENST00000536680.1_Missense_Mutation_p.L451I|ZRANB3_ENST00000401392.1_Missense_Mutation_p.L451I	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	451	DNA annealing helicase activity.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		AGGGTGTCTAGGGTTCCATTT	0.408																																						ENST00000401392.1																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(1351-1353)Cta>Ata		zinc finger, RAN-binding domain containing 3							208.0	200.0	202.0					2																	136026567		1861	4099	5960	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:136026567G>T	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.1351C>A	2.37:g.136026567G>T	ENSP00000264159:p.Leu451Ile					ZRANB3_ENST00000536680.1_Missense_Mutation_p.L451I|ZRANB3_ENST00000264159.6_Missense_Mutation_p.L451I	p.L451I			Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	11	1563	-			451			Helicase C-terminal.		B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.1351C>A	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	g	12.88	2.070212	0.36566	.	.	ENSG00000121988	ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91792	-2.91;-2.91;-2.91	5.31	2.57	0.30868	Helicase, C-terminal (1);	0.133058	0.52532	D	0.000079	T	0.80691	0.4671	N	0.11023	0.085	0.35771	D	0.820886	B;B	0.29481	0.245;0.114	B;B	0.35470	0.104;0.203	T	0.70565	-0.4837	10	0.16896	T	0.51	-10.6934	4.072	0.09887	0.3027:0.0:0.4321:0.2653	.	451;451	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	I	451	ENSP00000383979:L451I;ENSP00000264159:L451I;ENSP00000441320:L451I	ENSP00000264159:L451I	L	-	1	2	ZRANB3	135743037	0.981000	0.34729	0.999000	0.59377	0.900000	0.52787	1.385000	0.34408	0.347000	0.23924	-0.119000	0.15052	CTA		0.408	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		6	378	6	378	---	---	---	---
SPOPL	339745	broad.mit.edu	37	2	139322356	139322356	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:139322356C>A	ENST00000280098.4	+	9	1295	c.916C>A	c.(916-918)Ctt>Att	p.L306I		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	306					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		TGCAGATACCCTTGTCCTTGC	0.413																																						ENST00000280098.4																			0				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(916-918)Ctt>Att		speckle-type POZ protein-like							201.0	190.0	194.0					2																	139322356		2203	4300	6503	SO:0001583	missense	339745					nucleus		g.chr2:139322356C>A		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.916C>A	2.37:g.139322356C>A	ENSP00000280098:p.Leu306Ile						p.L306I	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	9	1295	+			306						Missense_Mutation	SNP	ENST00000280098.4	37	c.916C>A	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.795587	0.90453	.	.	ENSG00000144228	ENST00000280098	T	0.81078	-1.45	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	M	0.85630	2.765	0.80722	D	1	P	0.47484	0.896	P	0.54924	0.764	D	0.89295	0.3622	9	.	.	.	-13.4338	19.457	0.94897	0.0:1.0:0.0:0.0	.	306	Q6IQ16	SPOPL_HUMAN	I	306	ENSP00000280098:L306I	.	L	+	1	0	SPOPL	139038826	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.050000	0.71063	2.676000	0.91093	0.655000	0.94253	CTT		0.413	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			7	377	7	377	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166929887	166929887	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:166929887G>T	ENST00000303395.4	-	1	244	c.245C>A	c.(244-246)cCc>cAc	p.P82H	SCN1A_ENST00000409050.1_Missense_Mutation_p.P82H|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.P82H|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.P82H			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	82					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATATAGTAGGGGTCCAGGTC	0.438																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(244-246)cCc>cAc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						122.0	119.0	120.0					2																	166929887		2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166929887G>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.245C>A	2.37:g.166929887G>T	ENSP00000303540:p.Pro82His					AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P82H|SCN1A_ENST00000375405.3_Missense_Mutation_p.P82H|SCN1A_ENST00000303395.4_Missense_Mutation_p.P82H|AC010127.3_ENST00000595647.1_RNA	p.P82H	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			1	262	-			82					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.245C>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019178	0.75275	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97161	-4.27;-4.27;-4.25;-4.26	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000011	D	0.99017	0.9664	H	0.96333	3.805	0.49389	D	0.999784	D	0.76494	0.999	D	0.73708	0.981	D	0.99364	1.0918	10	0.87932	D	0	.	18.7532	0.91823	0.0:0.0:1.0:0.0	.	82	P35498-2	.	H	82	ENSP00000407030:P82H;ENSP00000303540:P82H;ENSP00000364554:P82H;ENSP00000386312:P82H	ENSP00000303540:P82H	P	-	2	0	SCN1A	166638133	1.000000	0.71417	0.963000	0.40424	0.994000	0.84299	7.800000	0.85949	2.750000	0.94351	0.655000	0.94253	CCC		0.438	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		6	295	6	295	---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167142854	167142854	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:167142854G>T	ENST00000409435.1	-	10	1593	c.1594C>A	c.(1594-1596)Ccc>Acc	p.P532T	SCN9A_ENST00000303354.6_Missense_Mutation_p.P533T|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.P532T|SCN9A_ENST00000375387.4_Missense_Mutation_p.P533T			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	532					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCTGATTGGGGGTAGACAAC	0.443																																						ENST00000375387.4																			0				NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(1597-1599)Ccc>Acc		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						249.0	232.0	238.0					2																	167142854		1910	4134	6044	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167142854G>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1594C>A	2.37:g.167142854G>T	ENSP00000386330:p.Pro532Thr					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.P532T|SCN9A_ENST00000303354.6_Missense_Mutation_p.P533T|SCN9A_ENST00000409672.1_Missense_Mutation_p.P532T	p.P533T			Q15858	SCN9A_HUMAN			11	1937	-			532					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.1597C>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.907032	0.33628	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	D;D;D;D;D;D	0.95980	-3.83;-3.86;-3.86;-3.86;-3.83;-3.87	5.25	5.25	0.73442	Domain of unknown function DUF3451 (1);	0.000000	0.31897	N	0.006894	D	0.97161	0.9072	M	0.86573	2.825	0.51482	D	0.999921	B;P;B	0.45634	0.413;0.863;0.07	B;P;B	0.54431	0.217;0.752;0.034	D	0.96173	0.9124	10	0.14252	T	0.57	.	19.1992	0.93704	0.0:0.0:1.0:0.0	.	532;532;533	E7EUN6;Q15858;E9PF08	.;SCN9A_HUMAN;.	T	532;533;533;532;397;397	ENSP00000386306:P532T;ENSP00000364536:P533T;ENSP00000304748:P533T;ENSP00000386330:P532T;ENSP00000413212:P397T;ENSP00000393141:P397T	ENSP00000304748:P533T	P	-	1	0	SCN9A	166851100	1.000000	0.71417	0.990000	0.47175	0.147000	0.21601	3.440000	0.52886	2.615000	0.88500	0.585000	0.79938	CCC		0.443	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		8	547	8	547	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168099319	168099319	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:168099319C>A	ENST00000409195.1	+	9	1506	c.1417C>A	c.(1417-1419)Cct>Act	p.P473T	XIRP2_ENST00000409273.1_Missense_Mutation_p.P251T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P473T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	298					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCCCAGTCCCCTGAACTGCC	0.408																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1417-1419)Cct>Act		xin actin-binding repeat containing 2							82.0	77.0	79.0					2																	168099319		1873	4100	5973	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099319C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1417C>A	2.37:g.168099319C>A	ENSP00000386840:p.Pro473Thr					XIRP2_ENST00000295237.9_Missense_Mutation_p.P473T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P251T	p.P473T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	1506	+			298					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1417C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847229	0.71603	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02812	4.15;4.15;4.15	5.59	5.59	0.84812	.	0.181876	0.48767	D	0.000164	T	0.13200	0.0320	L	0.61218	1.895	0.44890	D	0.997903	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.995	T	0.00043	-1.2224	10	0.66056	D	0.02	-13.8606	15.1318	0.72530	0.142:0.858:0.0:0.0	.	298;298;251	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	473;473;251	ENSP00000386840:P473T;ENSP00000295237:P473T;ENSP00000387255:P251T	ENSP00000295237:P473T	P	+	1	0	XIRP2	167807565	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.418000	0.44662	2.639000	0.89480	0.655000	0.94253	CCT		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		7	180	7	180	---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169847386	169847386	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:169847386C>A	ENST00000263817.6	-	9	957	c.833G>T	c.(832-834)gGg>gTg	p.G278V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	278	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGCCACCACCCCTGCTTTGGC	0.398																																						ENST00000263817.6																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(832-834)gGg>gTg		ATP-binding cassette, sub-family B (MDR/TAP), member 11	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						170.0	169.0	170.0					2																	169847386		1898	4117	6015	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169847386C>A	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.833G>T	2.37:g.169847386C>A	ENSP00000263817:p.Gly278Val						p.G278V	NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN			9	957	-			278			ABC transmembrane type-1 1.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.833G>T	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861822	0.91433	.	.	ENSG00000073734	ENST00000263817	D	0.90563	-2.69	5.53	5.53	0.82687	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96824	0.8963	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97314	0.9939	10	0.87932	D	0	-0.0564	19.8195	0.96586	0.0:1.0:0.0:0.0	.	278	O95342	ABCBB_HUMAN	V	278	ENSP00000263817:G278V	ENSP00000263817:G278V	G	-	2	0	ABCB11	169555632	1.000000	0.71417	0.935000	0.37517	0.952000	0.60782	7.750000	0.85110	2.756000	0.94617	0.655000	0.94253	GGG		0.398	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		7	349	7	349	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171260843	171260843	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:171260843C>A	ENST00000408978.4	+	20	2507	c.2364C>A	c.(2362-2364)ccC>ccA	p.P788P	MYO3B_ENST00000409044.3_Silent_p.P788P|MYO3B_ENST00000334231.6_Silent_p.P797P|MYO3B_ENST00000602629.1_3'UTR	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	788	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCCAGAAACCCCTGGGACTGC	0.493																																						ENST00000334231.6																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						c.(2389-2391)ccC>ccA		myosin IIIB							100.0	98.0	99.0					2																	171260843		1904	4121	6025	SO:0001819	synonymous_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171260843C>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.2364C>A	2.37:g.171260843C>A						MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Silent_p.P788P|MYO3B_ENST00000408978.4_Silent_p.P788P	p.P797P			Q8WXR4	MYO3B_HUMAN			20	2391	+			788			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Silent	SNP	ENST00000408978.4	37	c.2391C>A	CCDS42773.1																																																																																				0.493	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			5	172	5	172	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179395544	179395544	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:179395544G>T	ENST00000591111.1	-	308	101099	c.100875C>A	c.(100873-100875)ccC>ccA	p.P33625P	TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.P26201P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.P32698P|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000359218.5_Silent_p.P26326P|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.P26393P|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.P35266P|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33625					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)			TTGTCTCTGTGGGTGATACGG	0.488																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(105796-105798)ccC>ccA		titin							132.0	131.0	131.0					2																	179395544		1917	4121	6038	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395544G>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.100875C>A	2.37:g.179395544G>T						TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342992.6_Silent_p.P32698P|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.P26326P|TTN_ENST00000460472.2_Silent_p.P26201P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Silent_p.P26393P|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000591111.1_Silent_p.P33625P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.P35266P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	106022	-			33625					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.105798C>A																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	110	4	110	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179413235	179413235	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:179413235G>T	ENST00000591111.1	-	289	88419	c.88195C>A	c.(88195-88197)Cct>Act	p.P29399T	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P21975T|TTN-AS1_ENST00000591332.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P28472T|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P22100T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P22167T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P31040T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29399	Fibronectin type-III 114. {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)			TCAAGAAGAGGGGCATCCCAC	0.507																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(93118-93120)Cct>Act		titin							184.0	182.0	182.0					2																	179413235		1962	4161	6123	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413235G>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.88195C>A	2.37:g.179413235G>T	ENSP00000465570:p.Pro29399Thr					TTN_ENST00000342992.6_Missense_Mutation_p.P28472T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P22100T|TTN_ENST00000460472.2_Missense_Mutation_p.P21975T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P22167T|TTN_ENST00000591111.1_Missense_Mutation_p.P29399T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.P31040T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93342	-			29399			Fibronectin type-III 126.		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.93118C>A		.	.	.	.	.	.	.	.	.	.	G	15.92	2.975553	0.53720	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.87676	0.6237	H	0.97852	4.09	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.72982	0.961;0.961;0.961;0.979	D	0.91903	0.5533	9	0.87932	D	0	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	21975;22100;22167;29399	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	28472;21975;22167;22100;21972	ENSP00000343764:P28472T;ENSP00000434586:P21975T;ENSP00000340554:P22167T;ENSP00000352154:P22100T	ENSP00000340554:P22167T	P	-	1	0	TTN	179121481	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	9.750000	0.98875	2.646000	0.89796	0.655000	0.94253	CCT		0.507	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	386	7	386	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179545040	179545040	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:179545040C>A	ENST00000591111.1	-	137	32632	c.32408G>T	c.(32407-32409)aGg>aTg	p.R10803M	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9876M|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.R11120M|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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)			TGCGACAACCCTCTTGGGCTT	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(33358-33360)aGg>aTg		titin							193.0	185.0	187.0					2																	179545040		1859	4097	5956	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179545040C>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.32408G>T	2.37:g.179545040C>A	ENSP00000465570:p.Arg10803Met					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R9876M|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R10803M|TTN-AS1_ENST00000585451.1_RNA	p.R11120M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		139	33583	-			10803			Glu-rich.|Pro-rich.		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.33359G>T		.	.	.	.	.	.	.	.	.	.	C	8.707	0.911101	0.17833	.	.	ENSG00000155657	ENST00000342992	T	0.70986	-0.53	5.17	1.4	0.22301	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54902	0.1887	N	0.22421	0.69	0.80722	D	1	P	0.34462	0.454	B	0.37833	0.259	T	0.52388	-0.8582	9	0.87932	D	0	.	6.2927	0.21069	0.0:0.4918:0.0:0.5082	.	10803	Q8WZ42	TITIN_HUMAN	M	9876	ENSP00000343764:R9876M	ENSP00000343764:R9876M	R	-	2	0	TTN	179253285	0.046000	0.20272	0.996000	0.52242	0.583000	0.36354	-0.109000	0.10840	0.413000	0.25759	-0.251000	0.11542	AGG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	432	8	432	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179640649	179640649	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:179640649C>A	ENST00000591111.1	-	28	6166	c.5942G>T	c.(5941-5943)aGg>aTg	p.R1981M	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R1935M|TTN_ENST00000342992.6_Missense_Mutation_p.R1981M|TTN_ENST00000360870.5_Missense_Mutation_p.R1981M|TTN_ENST00000359218.5_Missense_Mutation_p.R1935M|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R1935M|TTN_ENST00000589042.1_Missense_Mutation_p.R1981M			Q8WZ42	TITIN_HUMAN	titin	12802					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)			TCTTTCAGCCCTTTTCAACTT	0.428																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(5941-5943)aGg>aTg		titin							140.0	145.0	144.0					2																	179640649		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640649C>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.5942G>T	2.37:g.179640649C>A	ENSP00000465570:p.Arg1981Met					TTN_ENST00000342992.6_Missense_Mutation_p.R1981M|TTN_ENST00000360870.5_Missense_Mutation_p.R1981M|TTN_ENST00000359218.5_Missense_Mutation_p.R1935M|TTN_ENST00000460472.2_Missense_Mutation_p.R1935M|TTN_ENST00000342175.6_Missense_Mutation_p.R1935M|TTN_ENST00000591111.1_Missense_Mutation_p.R1981M	p.R1981M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6166	-			1716					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.5942G>T		.	.	.	.	.	.	.	.	.	.	C	7.431	0.638661	0.14386	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65178	-0.14;0.11;0.1;0.09;0.24	5.1	5.1	0.69264	Ribonuclease H-like (1);	.	.	.	.	T	0.63486	0.2515	N	0.19112	0.55	0.28043	N	0.933666	D;D;D;D;D	0.76494	0.976;0.976;0.976;0.976;0.999	P;P;P;P;D	0.65443	0.72;0.72;0.72;0.72;0.935	T	0.57642	-0.7776	9	0.87932	D	0	.	9.328	0.38005	0.0:0.8401:0.0:0.1599	.	1935;1935;1935;1981;1981	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	M	1981;1935;1935;1935;1935;1981	ENSP00000343764:R1981M;ENSP00000434586:R1935M;ENSP00000340554:R1935M;ENSP00000352154:R1935M;ENSP00000354117:R1981M	ENSP00000340554:R1935M	R	-	2	0	TTN	179348894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.113000	0.50376	2.385000	0.81259	0.609000	0.83330	AGG		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	492	8	492	---	---	---	---
SSFA2	6744	broad.mit.edu	37	2	182780991	182780991	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:182780991G>T	ENST00000431877.2	+	11	2803	c.2624G>T	c.(2623-2625)gGg>gTg	p.G875V	SSFA2_ENST00000320370.7_Missense_Mutation_p.G875V|SSFA2_ENST00000428267.2_Missense_Mutation_p.G722V|SSFA2_ENST00000409136.1_Missense_Mutation_p.G384V|SSFA2_ENST00000409001.1_Missense_Mutation_p.G875V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	875						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AACATATCAGGGGCTACTTGT	0.522																																						ENST00000431877.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(2623-2625)gGg>gTg		sperm specific antigen 2							141.0	125.0	130.0					2																	182780991		2203	4300	6503	SO:0001583	missense	6744					cytoplasm|plasma membrane	actin binding	g.chr2:182780991G>T	M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.2624G>T	2.37:g.182780991G>T	ENSP00000388731:p.Gly875Val					SSFA2_ENST00000409001.1_Missense_Mutation_p.G875V|SSFA2_ENST00000320370.7_Missense_Mutation_p.G875V|SSFA2_ENST00000428267.2_Missense_Mutation_p.G722V|SSFA2_ENST00000409136.1_Missense_Mutation_p.G384V	p.G875V	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0856)		11	2803	+			875					A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	c.2624G>T	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022717	0.54683	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	5.95	5.02	0.67125	.	0.362633	0.31123	N	0.008201	T	0.74030	0.3663	M	0.73598	2.24	0.52501	D	0.999953	D;D;D;D;D	0.76494	0.999;0.997;0.997;0.997;0.997	D;D;D;D;D	0.63597	0.916;0.916;0.916;0.916;0.916	T	0.75952	-0.3136	10	0.59425	D	0.04	-7.1413	16.661	0.85240	0.0:0.1295:0.8705:0.0	.	722;384;875;875;875	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	V	875;875;875;722;384	ENSP00000388731:G875V;ENSP00000314669:G875V;ENSP00000387319:G875V;ENSP00000409867:G722V;ENSP00000386916:G384V	ENSP00000314669:G875V	G	+	2	0	SSFA2	182489236	0.998000	0.40836	0.371000	0.25978	0.729000	0.41735	3.356000	0.52269	2.824000	0.97209	0.655000	0.94253	GGG		0.522	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2	NM_006751		5	181	5	181	---	---	---	---
DNAJC10	54431	broad.mit.edu	37	2	183593382	183593382	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:183593382C>A	ENST00000264065.7	+	6	913	c.498C>A	c.(496-498)ccC>ccA	p.P166P	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Silent_p.P166P	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	166	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATTTAGCTCCCACAGTATGTA	0.299																																					Pancreas(56;860 1183 25669 35822 48585)	ENST00000264065.7																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(496-498)ccC>ccA		DnaJ (Hsp40) homolog, subfamily C, member 10							103.0	99.0	100.0					2																	183593382		2203	4300	6503	SO:0001819	synonymous_variant	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183593382C>A		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.498C>A	2.37:g.183593382C>A						DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Silent_p.P166P	p.P166P	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		6	913	+						Thioredoxin 1.		Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	ENST00000264065.7	37	c.498C>A	CCDS33345.1																																																																																				0.299	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981		6	238	6	238	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189863408	189863408	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:189863408G>T	ENST00000304636.3	+	29	2156	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	COL3A1_ENST00000317840.5_Missense_Mutation_p.K662N	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	662	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGGTCCAAAGGGTGATGCCG	0.368																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(1984-1986)aaG>aaT		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						80.0	79.0	79.0					2																	189863408		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189863408G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1986G>T	2.37:g.189863408G>T	ENSP00000304408:p.Lys662Asn					COL3A1_ENST00000317840.5_Missense_Mutation_p.K662N	p.K662N	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		29	2156	+			662			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1986G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630615	0.46944	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.95447	-3.71;-3.71	5.93	0.418	0.16429	.	0.119152	0.37304	N	0.002142	D	0.94026	0.8086	M	0.64080	1.96	0.46260	D	0.998959	B	0.33266	0.404	B	0.42995	0.404	D	0.89895	0.4040	10	0.52906	T	0.07	.	8.2496	0.31708	0.6762:0.0:0.3238:0.0	.	662	P02461	CO3A1_HUMAN	N	662	ENSP00000304408:K662N;ENSP00000315243:K662N	ENSP00000304408:K662N	K	+	3	2	COL3A1	189571653	1.000000	0.71417	0.998000	0.56505	0.769000	0.43574	1.103000	0.31062	0.124000	0.18369	0.655000	0.94253	AAG		0.368	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		4	88	4	88	---	---	---	---
HECW2	57520	broad.mit.edu	37	2	197184291	197184291	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:197184291C>A	ENST00000260983.3	-	9	1505	c.1323G>T	c.(1321-1323)atG>atT	p.M441I	HECW2_ENST00000409111.1_Missense_Mutation_p.M85I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	441					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAGAGGCACCCATGGACCTCT	0.502																																						ENST00000260983.3																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(1321-1323)atG>atT		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							54.0	55.0	55.0					2																	197184291		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197184291C>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1323G>T	2.37:g.197184291C>A	ENSP00000260983:p.Met441Ile					HECW2_ENST00000409111.1_Missense_Mutation_p.M85I	p.M441I	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			9	1505	-								B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1323G>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	5.834	0.338040	0.11013	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.28454	1.61;1.63	5.64	2.68	0.31781	.	1.430510	0.03537	N	0.223275	T	0.17109	0.0411	N	0.08118	0	0.20926	N	0.999824	B	0.02656	0.0	B	0.01281	0.0	T	0.16958	-1.0385	10	0.38643	T	0.18	.	3.9807	0.09493	0.2379:0.5008:0.0:0.2613	.	441	Q9P2P5	HECW2_HUMAN	I	85;441	ENSP00000386775:M85I;ENSP00000260983:M441I	ENSP00000260983:M441I	M	-	3	0	HECW2	196892536	0.052000	0.20516	0.796000	0.32109	0.141000	0.21300	-0.052000	0.11865	0.938000	0.37419	0.650000	0.86243	ATG		0.502	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		4	94	4	94	---	---	---	---
FAM126B	285172	broad.mit.edu	37	2	201846109	201846109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:201846109G>A	ENST00000418596.3	-	12	1664	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	AC005037.3_ENST00000413848.1_RNA|AC005037.3_ENST00000332935.6_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	493						intracellular (GO:0005622)		p.Q493*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CGGTCTTCCTGCAGACTGACA	0.512																																						ENST00000418596.3																			1	Substitution - Nonsense(1)	p.Q493*(1)	prostate(1)	endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(1477-1479)Cag>Tag		family with sequence similarity 126, member B							118.0	97.0	104.0					2																	201846109		2203	4300	6503	SO:0001587	stop_gained	285172					intracellular		g.chr2:201846109G>A	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.1477C>T	2.37:g.201846109G>A	ENSP00000393667:p.Gln493*					AC005037.3_ENST00000413848.1_RNA	p.Q493*	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			12	1664	-								B2RCG7|Q4ZG87|Q53TX6	Nonsense_Mutation	SNP	ENST00000418596.3	37	c.1477C>T	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055166	0.93793	.	.	ENSG00000155744	ENST00000418596	.	.	.	5.86	4.99	0.66335	.	0.243384	0.42682	D	0.000670	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-7.8694	14.8489	0.70281	0.0686:0.0:0.9314:0.0	.	.	.	.	X	493	.	ENSP00000393667:Q493X	Q	-	1	0	FAM126B	201554354	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	4.126000	0.57937	1.491000	0.48482	0.655000	0.94253	CAG		0.512	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		33	60	33	60	---	---	---	---
NRP2	8828	broad.mit.edu	37	2	206562332	206562332	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:206562332C>A	ENST00000357785.5	+	2	169	c.138C>A	c.(136-138)ccC>ccA	p.P46P	NRP2_ENST00000360409.3_Silent_p.P46P|NRP2_ENST00000357118.4_Silent_p.P46P|NRP2_ENST00000272849.3_Silent_p.P46P|NRP2_ENST00000355117.4_Silent_p.P46P|NRP2_ENST00000412873.2_Silent_p.P46P|NRP2_ENST00000540841.1_Silent_p.P46P|NRP2_ENST00000540178.1_Silent_p.P46P|NRP2_ENST00000417189.1_Silent_p.P46P			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCGGTTACCCCCAGGACTACC	0.502																																						ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(136-138)ccC>ccA		neuropilin 2							304.0	292.0	296.0					2																	206562332		2203	4300	6503	SO:0001819	synonymous_variant	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206562332C>A	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.138C>A	2.37:g.206562332C>A						NRP2_ENST00000272849.3_Silent_p.P46P|NRP2_ENST00000355117.4_Silent_p.P46P|NRP2_ENST00000357118.4_Silent_p.P46P|NRP2_ENST00000417189.1_Silent_p.P46P|NRP2_ENST00000357785.5_Silent_p.P46P|NRP2_ENST00000412873.2_Silent_p.P46P|NRP2_ENST00000540178.1_Silent_p.P46P|NRP2_ENST00000540841.1_Silent_p.P46P	p.P46P	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN			2	929	+			46			CUB 1.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000357785.5	37	c.138C>A	CCDS46496.1																																																																																				0.502	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			10	611	10	611	---	---	---	---
MDH1B	130752	broad.mit.edu	37	2	207615682	207615682	+	Missense_Mutation	SNP	G	G	T	rs546473860		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:207615682G>T	ENST00000374412.3	-	6	1303	c.1028C>A	c.(1027-1029)cCt>cAt	p.P343H	MDH1B_ENST00000449792.1_Missense_Mutation_p.P245H|MDH1B_ENST00000454776.2_Missense_Mutation_p.P343H|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	343					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTTTAAAACAGGGCGTGAATA	0.328																																					Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(1027-1029)cCt>cAt		malate dehydrogenase 1B, NAD (soluble)							91.0	92.0	92.0					2																	207615682		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207615682G>T		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.1028C>A	2.37:g.207615682G>T	ENSP00000363533:p.Pro343His					MDH1B_ENST00000449792.1_Missense_Mutation_p.P245H|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.P343H	p.P343H	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	6	1303	-			343					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.1028C>A	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	G	6.673	0.492702	0.12702	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.36520	1.25;1.25;1.25	5.97	4.09	0.47781	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.284497	0.39909	N	0.001228	T	0.40815	0.1132	M	0.78285	2.405	0.25750	N	0.985061	B;B	0.33940	0.433;0.372	B;B	0.37387	0.167;0.248	T	0.37337	-0.9710	10	0.44086	T	0.13	-11.654	10.4537	0.44537	0.0659:0.0:0.7015:0.2325	.	343;343	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	H	343;245;343	ENSP00000363533:P343H;ENSP00000416577:P245H;ENSP00000389916:P343H	ENSP00000363533:P343H	P	-	2	0	MDH1B	207323927	0.988000	0.35896	0.097000	0.21041	0.034000	0.12701	1.918000	0.40006	2.836000	0.97738	0.655000	0.94253	CCT		0.328	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		5	169	5	169	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209192967	209192967	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:209192967C>A	ENST00000264380.4	+	21	3840	c.3682C>A	c.(3682-3684)Cag>Aag	p.Q1228K		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1228					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTCTTCTGCCCAGTCCAGCAA	0.438																																						ENST00000264380.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						c.(3682-3684)Cag>Aag		phosphoinositide kinase, FYVE finger containing							220.0	186.0	197.0					2																	209192967		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209192967C>A	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3682C>A	2.37:g.209192967C>A	ENSP00000264380:p.Gln1228Lys						p.Q1228K	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN			21	3840	+			1228					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3682C>A	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418332	0.62622	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.24723	1.84;1.84	5.69	5.69	0.88448	.	0.061193	0.64402	D	0.000002	T	0.37348	0.1000	L	0.37630	1.12	0.80722	D	1	D;P	0.54964	0.969;0.865	D;P	0.64877	0.93;0.824	T	0.02736	-1.1117	10	0.05620	T	0.96	-7.5209	19.8155	0.96566	0.0:1.0:0.0:0.0	.	1228;1172	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	K	1228;804;1172	ENSP00000264380:Q1228K;ENSP00000405736:Q1172K	ENSP00000264380:Q1228K	Q	+	1	0	PIKFYVE	208901212	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.089000	0.71384	2.682000	0.91365	0.650000	0.86243	CAG		0.438	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		5	285	5	285	---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210518007	210518007	+	Missense_Mutation	SNP	G	G	T	rs188840497	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:210518007G>T	ENST00000360351.4	+	4	619	c.113G>T	c.(112-114)gGg>gTg	p.G38V	MAP2_ENST00000447185.1_Missense_Mutation_p.G38V|MAP2_ENST00000199940.6_Missense_Mutation_p.G38V|MAP2_ENST00000361559.4_Missense_Mutation_p.G38V|MAP2_ENST00000392194.1_Missense_Mutation_p.G38V	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	38					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)	p.G38V(3)|p.G38E(1)		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)	GGCGGAGCAGGGGAAGGACTT	0.532																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			4	Substitution - Missense(4)	p.G38V(3)|p.G38E(1)	lung(2)|large_intestine(1)|central_nervous_system(1)	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						c.(112-114)gGg>gTg		microtubule-associated protein 2	Estramustine(DB01196)						115.0	86.0	96.0					2																	210518007		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.chr2:210518007G>T		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.113G>T	2.37:g.210518007G>T	ENSP00000353508:p.Gly38Val					MAP2_ENST00000361559.4_Missense_Mutation_p.G38V|MAP2_ENST00000199940.6_Missense_Mutation_p.G38V|MAP2_ENST00000392194.1_Missense_Mutation_p.G38V|MAP2_ENST00000447185.1_Missense_Mutation_p.G38V	p.G38V	NM_002374.3	NP_002365.3	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)	4	619	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	38					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.113G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.737959	0.69304	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.45	4.58	0.56647	.	0.000000	0.64402	D	0.000018	T	0.32852	0.0843	L	0.27053	0.805	0.80722	D	1	D;P;D;P;D;P	0.89917	1.0;0.933;1.0;0.761;1.0;0.826	D;P;D;B;D;B	0.97110	1.0;0.732;0.983;0.346;1.0;0.292	T	0.10132	-1.0643	10	0.66056	D	0.02	-9.0334	13.2714	0.60164	0.076:0.0:0.924:0.0	.	38;38;39;38;38;38	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	V	38	ENSP00000199940:G38V;ENSP00000376031:G38V;ENSP00000353508:G38V;ENSP00000355290:G38V;ENSP00000409969:G38V;ENSP00000376032:G38V;ENSP00000392164:G38V	ENSP00000199940:G38V	G	+	2	0	MAP2	210226252	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.744000	0.74854	1.312000	0.45043	-0.136000	0.14681	GGG		0.532	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		4	81	4	81	---	---	---	---
RPE	6120	broad.mit.edu	37	2	210881324	210881324	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:210881324G>T	ENST00000359429.6	+	4	533	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	RPE_ENST00000438204.2_Missense_Mutation_p.G78W|RPE_ENST00000435437.2_Missense_Mutation_p.G146W|RPE_ENST00000452025.1_Missense_Mutation_p.G146W|RPE_ENST00000445268.1_Missense_Mutation_p.G78W|RPE_ENST00000429907.1_Missense_Mutation_p.G78W|RPE_ENST00000454822.1_Missense_Mutation_p.G96W|RPE_ENST00000540255.1_Missense_Mutation_p.G146W|RPE_ENST00000429921.1_Missense_Mutation_p.G96W|RPE_ENST00000354506.6_Missense_Mutation_p.G138W|RPE_ENST00000436630.2_Missense_Mutation_p.G96W|RPE_ENST00000411934.2_Missense_Mutation_p.G78W	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN	ribulose-5-phosphate-3-epimerase	146	Substrate binding.				carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|ribulose-phosphate 3-epimerase activity (GO:0004750)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AGTGGAACCGGGGTTTGGAGG	0.438																																						ENST00000359429.6																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9						c.(436-438)Ggg>Tgg		ribulose-5-phosphate-3-epimerase							132.0	129.0	130.0					2																	210881324		2203	4300	6503	SO:0001583	missense	6120				pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	g.chr2:210881324G>T		CCDS2388.1, CCDS42810.1, CCDS63107.1, CCDS63108.1	2q32-q33.3	2012-10-02			ENSG00000197713	ENSG00000197713	5.1.3.1		10293	protein-coding gene	gene with protein product		180480					Standard	NM_199229		Approved		uc002vdn.4	Q96AT9	OTTHUMG00000154690	ENST00000359429.6:c.436G>T	2.37:g.210881324G>T	ENSP00000352401:p.Gly146Trp					RPE_ENST00000429907.1_Missense_Mutation_p.G78W|RPE_ENST00000452025.1_Missense_Mutation_p.G146W|RPE_ENST00000454822.1_Missense_Mutation_p.G96W|RPE_ENST00000438204.2_Missense_Mutation_p.G78W|RPE_ENST00000411934.2_Missense_Mutation_p.G78W|RPE_ENST00000445268.1_Missense_Mutation_p.G78W|RPE_ENST00000429921.1_Missense_Mutation_p.G96W|RPE_ENST00000435437.2_Missense_Mutation_p.G146W|RPE_ENST00000540255.1_Missense_Mutation_p.G146W|RPE_ENST00000354506.6_Missense_Mutation_p.G138W|RPE_ENST00000436630.2_Missense_Mutation_p.G96W	p.G146W	NM_199229.1	NP_954699.1	Q96AT9	RPE_HUMAN		Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)	4	533	+			146			Substrate binding.		A8K4S0|B4E016|C9JPQ7|O43767|Q53TV9|Q8N215|Q96N34|Q9BSB5	Missense_Mutation	SNP	ENST00000359429.6	37	c.436G>T	CCDS2388.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929717	0.92389	.	.	ENSG00000197713	ENST00000359429;ENST00000436630;ENST00000408981;ENST00000454822;ENST00000429921;ENST00000540255;ENST00000438265;ENST00000429907;ENST00000441588;ENST00000445268;ENST00000452025;ENST00000438204;ENST00000411934;ENST00000435437;ENST00000354506	.	.	.	5.45	5.45	0.79879	Aldolase-type TIM barrel (1);Ribulose-phosphate binding barrel (1);	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	M	0.93808	3.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.89930	0.4065	9	0.87932	D	0	-3.1604	19.2659	0.93985	0.0:0.0:1.0:0.0	.	146;138;146;146	B4E016;E7EW52;Q96AT9;C9J9T0	.;.;RPE_HUMAN;.	W	146;96;78;96;96;146;96;78;78;78;146;78;78;146;138	.	ENSP00000346501:G138W	G	+	1	0	RPE	210589569	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.777000	0.99008	2.725000	0.93324	0.655000	0.94253	GGG		0.438	RPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336574.2	NM_006916		6	278	6	278	---	---	---	---
PECR	55825	broad.mit.edu	37	2	216914052	216914052	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:216914052C>A	ENST00000265322.7	-	6	722	c.648G>T	c.(646-648)tgG>tgT	p.W216C	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	216					fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	AGCTTTGTCCCCAGGAACCAT	0.358																																						ENST00000265322.7																			0				endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14						c.(646-648)tgG>tgT		peroxisomal trans-2-enoyl-CoA reductase	Adenine(DB00173)						109.0	117.0	115.0					2																	216914052		2203	4300	6503	SO:0001583	missense	55825				fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity	g.chr2:216914052C>A	AF119841	CCDS33375.1	2q35	2011-09-14			ENSG00000115425	ENSG00000115425	1.3.1.38	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18281	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 29C, member 1"""	605843				10811639, 11669066, 19027726	Standard	NM_018441		Approved	HSA250303, TERP, SDR29C1	uc002vft.3	Q9BY49	OTTHUMG00000154825	ENST00000265322.7:c.648G>T	2.37:g.216914052C>A	ENSP00000265322:p.Trp216Cys					PECR_ENST00000497889.1_5'UTR	p.W216C	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	6	722	-		Renal(323;0.0327)	216					B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4	Missense_Mutation	SNP	ENST00000265322.7	37	c.648G>T	CCDS33375.1	.	.	.	.	.	.	.	.	.	.	C	6.313	0.425892	0.11987	.	.	ENSG00000115425	ENST00000265322	D	0.87966	-2.32	5.73	-4.9	0.03094	NAD(P)-binding domain (1);	1.940430	0.02082	N	0.052407	T	0.73442	0.3587	N	0.12182	0.205	0.09310	N	1	B;B	0.14438	0.005;0.01	B;B	0.12156	0.007;0.003	T	0.61302	-0.7090	10	0.39692	T	0.17	.	5.4033	0.16308	0.487:0.3243:0.1186:0.0701	.	216;70	Q9BY49;Q9BY49-2	PECR_HUMAN;.	C	216	ENSP00000265322:W216C	ENSP00000265322:W216C	W	-	3	0	PECR	216622297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.646000	0.01998	-0.521000	0.06426	-2.998000	0.00077	TGG		0.358	PECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337277.1	NM_018441		6	318	6	318	---	---	---	---
ZNF142	7701	broad.mit.edu	37	2	219508775	219508775	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:219508775C>A	ENST00000449707.1	-	8	2885	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W	ZNF142_ENST00000411696.2_Missense_Mutation_p.G822W	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	822					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCACCCGCCCCTCTAGCACC	0.577																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2464-2466)Ggg>Tgg		zinc finger protein 142							195.0	208.0	204.0					2																	219508775		2096	4229	6325	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508775C>A	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2464G>T	2.37:g.219508775C>A	ENSP00000408643:p.Gly822Trp					ZNF142_ENST00000449707.1_Missense_Mutation_p.G822W	p.G822W			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3243	-		Renal(207;0.0474)	822					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.2464G>T	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460393	0.84317	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.19394	2.15;2.15	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.11842	-1.0571	10	0.62326	D	0.03	-16.7471	18.9765	0.92738	0.0:1.0:0.0:0.0	.	822;659	P52746;A8MWU9	ZN142_HUMAN;.	W	822	ENSP00000408643:G822W;ENSP00000398798:G822W	ENSP00000398798:G822W	G	-	1	0	ZNF142	219217019	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.617000	0.83032	2.720000	0.93068	0.655000	0.94253	GGG		0.577	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		7	300	7	300	---	---	---	---
ZNF142	7701	broad.mit.edu	37	2	219508853	219508853	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:219508853G>T	ENST00000449707.1	-	8	2807	c.2386C>A	c.(2386-2388)Cca>Aca	p.P796T	ZNF142_ENST00000411696.2_Missense_Mutation_p.P796T	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	796					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGTAATGGGGGCAAGGGT	0.532																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(2386-2388)Cca>Aca		zinc finger protein 142							167.0	172.0	170.0					2																	219508853		2077	4225	6302	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508853G>T	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2386C>A	2.37:g.219508853G>T	ENSP00000408643:p.Pro796Thr					ZNF142_ENST00000449707.1_Missense_Mutation_p.P796T	p.P796T			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3165	-		Renal(207;0.0474)	796					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.2386C>A	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	G	4.092	0.015076	0.07959	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.10573	2.86;2.86	5.07	5.07	0.68467	.	0.782790	0.11781	N	0.530168	T	0.06735	0.0172	N	0.14661	0.345	0.09310	N	1	B;B	0.27559	0.181;0.039	B;B	0.24155	0.051;0.023	T	0.31392	-0.9945	10	0.14656	T	0.56	-16.473	11.2072	0.48775	0.0:0.0:0.7674:0.2326	.	796;633	P52746;A8MWU9	ZN142_HUMAN;.	T	796	ENSP00000408643:P796T;ENSP00000398798:P796T	ENSP00000398798:P796T	P	-	1	0	ZNF142	219217097	0.993000	0.37304	0.244000	0.24202	0.714000	0.41099	4.022000	0.57203	2.644000	0.89710	0.655000	0.94253	CCA		0.532	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		7	310	7	310	---	---	---	---
TTLL4	9654	broad.mit.edu	37	2	219617870	219617870	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:219617870G>T	ENST00000392102.1	+	18	3560	c.3220G>T	c.(3220-3222)Ggg>Tgg	p.G1074W	TTLL4_ENST00000442769.1_Missense_Mutation_p.G1010W|TTLL4_ENST00000258398.4_Missense_Mutation_p.G1074W|TTLL4_ENST00000457313.1_Missense_Mutation_p.G909W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	1074					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GTGCTACAAAGGGTTCCACAT	0.517																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(3220-3222)Ggg>Tgg		tubulin tyrosine ligase-like family, member 4							249.0	238.0	241.0					2																	219617870		2203	4300	6503	SO:0001583	missense	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219617870G>T		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	ENST00000392102.1:c.3220G>T	2.37:g.219617870G>T	ENSP00000375951:p.Gly1074Trp					TTLL4_ENST00000258398.4_Missense_Mutation_p.G1074W|TTLL4_ENST00000457313.1_Missense_Mutation_p.G909W|TTLL4_ENST00000442769.1_Missense_Mutation_p.G1010W	p.G1074W	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	18	3560	+		Renal(207;0.0915)	1074					A8K6V5|Q8WW29	Missense_Mutation	SNP	ENST00000392102.1	37	c.3220G>T	CCDS2422.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.06|19.06|19.06	3.753798|3.753798|3.753798	0.69648|0.69648|0.69648	.|.|.	.|.|.	ENSG00000135912|ENSG00000135912|ENSG00000135912	ENST00000457313;ENST00000392102;ENST00000442769;ENST00000258398|ENST00000417855|ENST00000436668	T;T;T;T|.|.	0.04454|.|.	3.73;3.96;3.62;3.96|.|.	5.17|5.17|5.17	5.17|5.17|5.17	0.71159|0.71159|0.71159	.|.|.	0.702602|.|.	0.14594|.|.	N|.|.	0.310080|.|.	T|T|T	0.75236|0.75236|0.75236	0.3822|0.3822|0.3822	M|M|M	0.76002|0.76002|0.76002	2.32|2.32|2.32	0.43814|0.43814|0.43814	D|D|D	0.996374|0.996374|0.996374	D;D;D|.|.	0.89917|.|.	1.0;1.0;0.999|.|.	D;D;D|.|.	0.87578|.|.	0.997;0.998;0.996|.|.	T|T|T	0.75130|0.75130|0.75130	-0.3426|-0.3426|-0.3426	10|6|5	0.87932|0.72032|.	D|D|.	0|0.01|.	.|.|.	15.9951|15.9951|15.9951	0.80234|0.80234|0.80234	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	909;1010;1074|.|.	E9PH58;E7EX20;Q14679|.|.	.;.;TTLL4_HUMAN|.|.	W|N|M	909;1074;1010;1074|97|176	ENSP00000393332:G909W;ENSP00000375951:G1074W;ENSP00000396555:G1010W;ENSP00000258398:G1074W|.|.	ENSP00000258398:G1074W|ENSP00000400068:K97N|.	G|K|R	+|+|+	1|3|2	0|2|0	TTLL4|TTLL4|TTLL4	219326114|219326114|219326114	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	3.654000|3.654000|3.654000	0.54453|0.54453|0.54453	2.683000|2.683000|2.683000	0.91414|0.91414|0.91414	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGG|AAG|AGG		0.517	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	NM_014640		8	556	8	556	---	---	---	---
FAM134A	79137	broad.mit.edu	37	2	220047109	220047109	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:220047109C>A	ENST00000430297.2	+	9	1526	c.1390C>A	c.(1390-1392)Cct>Act	p.P464T		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	464						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCCCTCCCCTTCCATTCT	0.617																																						ENST00000430297.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(1390-1392)Cct>Act		family with sequence similarity 134, member A							93.0	94.0	94.0					2																	220047109		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220047109C>A	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1390C>A	2.37:g.220047109C>A	ENSP00000395249:p.Pro464Thr						p.P464T	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1526	+		Renal(207;0.0915)	464					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.1390C>A	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	C	4.203	0.036463	0.08148	.	.	ENSG00000144567	ENST00000430297	T	0.29917	1.55	5.13	2.34	0.29019	.	0.473420	0.16282	N	0.221292	T	0.25158	0.0611	L	0.50333	1.59	0.36409	D	0.863587	B	0.15141	0.012	B	0.16289	0.015	T	0.13335	-1.0513	9	.	.	.	-6.5456	8.6561	0.34064	0.0:0.704:0.0:0.296	.	464	Q8NC44	F134A_HUMAN	T	464	ENSP00000395249:P464T	.	P	+	1	0	FAM134A	219755353	0.113000	0.22115	0.168000	0.22838	0.209000	0.24338	0.125000	0.15749	0.761000	0.33130	-0.253000	0.11424	CCT		0.617	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		6	138	6	138	---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222428928	222428928	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:222428928C>A	ENST00000281821.2	-	3	387	c.346G>T	c.(346-348)Ggg>Tgg	p.G116W	EPHA4_ENST00000392071.4_Missense_Mutation_p.G65W|EPHA4_ENST00000409854.1_Missense_Mutation_p.G116W|EPHA4_ENST00000409938.1_Missense_Mutation_p.G116W	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	116	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGCAAGTCCCCATGACGCCC	0.463																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(346-348)Ggg>Tgg		EPH receptor A4							135.0	129.0	131.0					2																	222428928		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222428928C>A	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.346G>T	2.37:g.222428928C>A	ENSP00000281821:p.Gly116Trp					EPHA4_ENST00000409938.1_Missense_Mutation_p.G116W|EPHA4_ENST00000392071.4_Missense_Mutation_p.G65W|EPHA4_ENST00000409854.1_Missense_Mutation_p.G116W	p.G116W	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	3	387	-		Renal(207;0.0183)	116					A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.346G>T	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302007	0.40694	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071;ENST00000419964;ENST00000541600	T;T;T;T;T;T	0.04015	3.73;3.73;3.73;3.73;3.73;3.73	6.17	5.29	0.74685	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.094910	0.64402	D	0.000001	T	0.31451	0.0797	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46373	-0.9196	10	0.87932	D	0	.	17.7453	0.88419	0.0:0.8777:0.1223:0.0	.	116	P54764	EPHA4_HUMAN	W	116;116;116;65;57;116	ENSP00000281821:G116W;ENSP00000386276:G116W;ENSP00000386829:G116W;ENSP00000375923:G65W;ENSP00000410158:G57W;ENSP00000444085:G116W	ENSP00000281821:G116W	G	-	1	0	EPHA4	222137172	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	5.920000	0.70017	1.616000	0.50265	-0.165000	0.13383	GGG		0.463	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			6	358	6	358	---	---	---	---
MFF	56947	broad.mit.edu	37	2	228197205	228197205	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:228197205C>A	ENST00000353339.3	+	5	771	c.330C>A	c.(328-330)ccC>ccA	p.P110P	MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000524634.1_De_novo_Start_InFrame|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000409616.1_Silent_p.P84P	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	110					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)			breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CCTTTAAACCCCTGGCACTGA	0.398																																						ENST00000524634.1																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21								mitochondrial fission factor							232.0	226.0	228.0					2																	228197205		2203	4300	6503	SO:0001819	synonymous_variant	56947					integral to membrane|mitochondrial outer membrane		g.chr2:228197205C>A	AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.330C>A	2.37:g.228197205C>A						MFF_ENST00000476924.1_3'UTR|MFF_ENST00000349901.7_Silent_p.P84P|MFF_ENST00000409565.1_Silent_p.P84P|MFF_ENST00000354503.6_Silent_p.P84P|MFF_ENST00000353339.3_Silent_p.P110P|MFF_ENST00000392059.1_Silent_p.P110P|MFF_ENST00000304593.9_Silent_p.P84P|MFF_ENST00000337110.7_Silent_p.P84P|MFF_ENST00000409616.1_Silent_p.P84P				Q9GZY8	MFF_HUMAN			0	228	+								Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Translation_Start_Site	SNP	ENST00000353339.3	37		CCDS2465.1																																																																																				0.398	MFF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256887.2	NM_020194		12	844	12	844	---	---	---	---
GIGYF2	26058	broad.mit.edu	37	2	233671322	233671322	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:233671322G>T	ENST00000409547.1	+	17	2072	c.1761G>T	c.(1759-1761)tgG>tgT	p.W587C	GIGYF2_ENST00000452341.2_Missense_Mutation_p.W418C|GIGYF2_ENST00000409480.1_Missense_Mutation_p.W609C|GIGYF2_ENST00000409451.3_Missense_Mutation_p.W608C|GIGYF2_ENST00000373563.4_Missense_Mutation_p.W587C|GIGYF2_ENST00000409196.3_Missense_Mutation_p.W581C|GIGYF2_ENST00000373566.3_Missense_Mutation_p.W609C	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	587					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGAAAATGTGGGGAAGGGTTC	0.458																																						ENST00000373566.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(1825-1827)tgG>tgT		GRB10 interacting GYF protein 2							153.0	149.0	150.0					2																	233671322		2203	4300	6503	SO:0001583	missense	26058				cell death		protein binding	g.chr2:233671322G>T	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.1761G>T	2.37:g.233671322G>T	ENSP00000386537:p.Trp587Cys					GIGYF2_ENST00000409451.3_Missense_Mutation_p.W608C|GIGYF2_ENST00000452341.2_Missense_Mutation_p.W418C|GIGYF2_ENST00000409196.3_Missense_Mutation_p.W581C|GIGYF2_ENST00000409480.1_Missense_Mutation_p.W609C|GIGYF2_ENST00000409547.1_Missense_Mutation_p.W587C|GIGYF2_ENST00000373563.4_Missense_Mutation_p.W587C	p.W609C			Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	16	2024	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	587			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	ENST00000409547.1	37	c.1827G>T	CCDS33401.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200083	0.79015	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000452341	T;T;T;T;T;T;T;T;T	0.75260	-0.77;-0.77;-0.77;-0.77;-0.92;-0.78;-0.77;-0.9;-0.63	5.71	5.71	0.89125	GYF (3);	0.000000	0.85682	D	0.000000	D	0.83294	0.5223	L	0.48986	1.54	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.997	T	0.78981	-0.1989	10	0.26408	T	0.33	-8.5335	19.8706	0.96849	0.0:0.0:1.0:0.0	.	418;608;587;581	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	C	609;530;587;609;587;587;530;581;608;581;418	ENSP00000362667:W609C;ENSP00000362664:W587C;ENSP00000386765:W609C;ENSP00000386537:W587C;ENSP00000404195:W530C;ENSP00000387070:W581C;ENSP00000387170:W608C;ENSP00000410297:W581C;ENSP00000411505:W418C	ENSP00000362664:W587C	W	+	3	0	GIGYF2	233379566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.807000	0.99171	2.691000	0.91804	0.563000	0.77884	TGG		0.458	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	NM_001103146		6	352	6	352	---	---	---	---
UGT1A1	54658	broad.mit.edu	37	2	234526904	234526904	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:234526904C>A	ENST00000373450.4	+	1	614	c.551C>A	c.(550-552)cCt>cAt	p.P184H		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	187					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	GCACAGTGCCCTGCTCCTCTT	0.493																																						ENST00000373450.4																			0				breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30						c.(550-552)cCt>cAt			Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						161.0	167.0	165.0					2																	234526904		2203	4300	6503	SO:0001583	missense	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234526904C>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.551C>A	2.37:g.234526904C>A	ENSP00000362549:p.Pro184His						p.P184H	NM_019076.4	NP_061949.3	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	614	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)						A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.551C>A	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.635587	0.29068	.	.	ENSG00000242366	ENST00000373450	T	0.65364	-0.15	3.96	3.08	0.35506	.	.	.	.	.	T	0.81403	0.4815	M	0.93978	3.48	0.38368	D	0.944787	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83948	0.0315	9	0.72032	D	0.01	.	8.3583	0.32344	0.0:0.8175:0.0:0.1825	.	184;184	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	H	184	ENSP00000362549:P184H	ENSP00000362549:P184H	P	+	2	0	UGT1A8	234191643	1.000000	0.71417	0.020000	0.16555	0.015000	0.08874	4.690000	0.61731	1.025000	0.39708	0.505000	0.49811	CCT		0.493	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			7	425	7	425	---	---	---	---
UGT1A3	54659	broad.mit.edu	37	2	234638401	234638401	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:234638401G>T	ENST00000482026.1	+	1	648	c.629G>T	c.(628-630)aGg>aTg	p.R210M	UGT1A6_ENST00000373424.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R210M|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	210					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	TTCATGCAAAGGGTCAAGAAC	0.453																																						ENST00000482026.1																			0				breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46						c.(628-630)aGg>aTg									244.0	229.0	234.0					2																	234638401		2203	4300	6503	SO:0001583	missense	54659							g.chr2:234638401G>T	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.629G>T	2.37:g.234638401G>T	ENSP00000418532:p.Arg210Met					UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R210M|UGT1A6_ENST00000305139.6_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron	p.R210M						Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	1	648	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)						B8K287	Missense_Mutation	SNP	ENST00000482026.1	37	c.629G>T	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.186460	0.78789	.	.	ENSG00000243135	ENST00000482026	T	0.72835	-0.69	4.2	4.2	0.49525	.	.	.	.	.	D	0.89354	0.6691	H	0.96777	3.88	0.48288	D	0.999628	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93456	0.6806	9	0.87932	D	0	.	16.5174	0.84304	0.0:0.0:1.0:0.0	.	210;210	Q5DT01;P35503	.;UD13_HUMAN	M	210	ENSP00000418532:R210M	ENSP00000418532:R210M	R	+	2	0	UGT1A3	234303140	0.999000	0.42202	0.980000	0.43619	0.874000	0.50279	7.973000	0.88032	1.880000	0.54463	0.585000	0.79938	AGG		0.453	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093		8	439	8	439	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238274414	238274414	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:238274414G>T	ENST00000295550.4	-	12	6217	c.5765C>A	c.(5764-5766)cCc>cAc	p.P1922H	COL6A3_ENST00000346358.4_Missense_Mutation_p.P1722H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1721H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1716H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1315H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1716H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1922	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGGACGTAGGGGTGCTGGCT	0.612																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5764-5766)cCc>cAc		collagen, type VI, alpha 3							81.0	77.0	78.0					2																	238274414		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238274414G>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5765C>A	2.37:g.238274414G>T	ENSP00000295550:p.Pro1922His					COL6A3_ENST00000346358.4_Missense_Mutation_p.P1722H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1716H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1721H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1315H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1716H	p.P1922H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	12	6217	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1922			Nonhelical region.|VWFA 10.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5765C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600641	0.46423	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	5.34	5.34	0.76211	von Willebrand factor, type A (2);	0.116963	0.38492	N	0.001669	T	0.63462	0.2513	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.987;0.994;0.915	T	0.64681	-0.6350	10	0.52906	T	0.07	.	19.4237	0.94732	0.0:0.0:1.0:0.0	.	1315;1716;1922	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1922;1721;1716;1315;1716;1722	ENSP00000295550:P1922H;ENSP00000315609:P1721H;ENSP00000315873:P1716H;ENSP00000418285:P1315H;ENSP00000386844:P1716H;ENSP00000295546:P1722H	ENSP00000295550:P1922H	P	-	2	0	COL6A3	237939153	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.368000	0.79567	2.665000	0.90641	0.655000	0.94253	CCC		0.612	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		6	126	6	126	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238275770	238275770	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:238275770G>T	ENST00000295550.4	-	11	5512	c.5060C>A	c.(5059-5061)cCc>cAc	p.P1687H	COL6A3_ENST00000346358.4_Missense_Mutation_p.P1487H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1486H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1481H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1080H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1481H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1687	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.		P -> S (in dbSNP:rs35273032). {ECO:0000269|PubMed:15689448}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCGTCAGTGGGGTCAGAGTT	0.473																																						ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(5059-5061)cCc>cAc		collagen, type VI, alpha 3							78.0	68.0	71.0					2																	238275770		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275770G>T	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5060C>A	2.37:g.238275770G>T	ENSP00000295550:p.Pro1687His					COL6A3_ENST00000346358.4_Missense_Mutation_p.P1487H|COL6A3_ENST00000353578.4_Missense_Mutation_p.P1481H|COL6A3_ENST00000347401.3_Missense_Mutation_p.P1486H|COL6A3_ENST00000472056.1_Missense_Mutation_p.P1080H|COL6A3_ENST00000409809.1_Missense_Mutation_p.P1481H	p.P1687H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5512	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1687		P -> S (in dbSNP:rs35273032).	Nonhelical region.|VWFA 9.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5060C>A	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286096	0.40394	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33;-1.33	5.5	5.5	0.81552	von Willebrand factor, type A (3);	0.248060	0.28742	N	0.014292	D	0.88130	0.6354	M	0.86651	2.83	0.33009	D	0.527278	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.87578	0.998;0.997;0.947	D	0.87490	0.2426	10	0.18276	T	0.48	.	7.1876	0.25809	0.2066:0.0:0.7934:0.0	.	1080;1481;1687	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1687;1486;1481;1080;1481;1487	ENSP00000295550:P1687H;ENSP00000315609:P1486H;ENSP00000315873:P1481H;ENSP00000418285:P1080H;ENSP00000386844:P1481H;ENSP00000295546:P1487H	ENSP00000295550:P1687H	P	-	2	0	COL6A3	237940509	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.555000	0.60767	2.573000	0.86826	0.655000	0.94253	CCC		0.473	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		4	65	4	65	---	---	---	---
RAB17	64284	broad.mit.edu	37	2	238494758	238494758	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:238494758G>T	ENST00000264601.3	-	2	669	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	RAB17_ENST00000409822.1_Intron|RAB17_ENST00000416106.1_5'UTR|RAB17_ENST00000538644.1_5'UTR|RAB17_ENST00000409576.1_Intron	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	14					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GGCTGGCTGGGGGCAGCCCTG	0.582																																					Colon(56;987 1029 6466 13943 27336)	ENST00000264601.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4						c.(40-42)Ccc>Acc		RAB17, member RAS oncogene family							44.0	49.0	47.0					2																	238494758		2203	4300	6503	SO:0001583	missense	64284				protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding	g.chr2:238494758G>T	AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"""RAB, member RAS oncogene"""	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.40C>A	2.37:g.238494758G>T	ENSP00000264601:p.Pro14Thr					RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Intron|RAB17_ENST00000538644.1_5'UTR|RAB17_ENST00000416106.1_5'UTR	p.P14T	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)	2	669	-		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)	14					Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Missense_Mutation	SNP	ENST00000264601.3	37	c.40C>A	CCDS2520.1	.	.	.	.	.	.	.	.	.	.	G	8.243	0.807233	0.16467	.	.	ENSG00000124839	ENST00000264601;ENST00000411462	T;T	0.63255	-0.03;0.35	4.69	-4.35	0.03656	.	1.393840	0.04991	N	0.467342	T	0.37758	0.1015	N	0.17379	0.485	0.09310	N	0.999998	B	0.22003	0.063	B	0.19666	0.026	T	0.10941	-1.0608	10	0.25751	T	0.34	-13.999	1.9845	0.03433	0.312:0.3204:0.258:0.1096	.	14	Q9H0T7	RAB17_HUMAN	T	14	ENSP00000264601:P14T;ENSP00000400240:P14T	ENSP00000264601:P14T	P	-	1	0	RAB17	238159497	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.190000	0.17057	-0.536000	0.06298	-0.229000	0.12294	CCC		0.582	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257084.2			4	82	4	82	---	---	---	---
MTERF4	130916	broad.mit.edu	37	2	242035730	242035730	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:242035730G>T	ENST00000391980.2	-	4	887	c.829C>A	c.(829-831)Cct>Act	p.P277T	MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.P89T	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		277					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TTCTTATCAGGGGTTTGGTAC	0.468																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(829-831)Cct>Act		MTERF domain containing 2							137.0	134.0	135.0					2																	242035730		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242035730G>T																												ENST00000391980.2:c.829C>A	2.37:g.242035730G>T	ENSP00000375840:p.Pro277Thr					MTERFD2_ENST00000406593.1_Missense_Mutation_p.P89T|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron	p.P277T	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	4	887	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	277					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.829C>A	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029667	0.54790	.	.	ENSG00000122085	ENST00000391980;ENST00000406593;ENST00000439144	T;T;T	0.35048	2.42;2.31;1.33	5.57	4.7	0.59300	.	0.000000	0.64402	D	0.000001	T	0.59609	0.2206	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60100	-0.7329	10	0.33141	T	0.24	14.2271	14.0599	0.64793	0.0733:0.0:0.9267:0.0	.	277	Q7Z6M4	MTER2_HUMAN	T	277;89;130	ENSP00000375840:P277T;ENSP00000384998:P89T;ENSP00000414989:P130T	ENSP00000241527:P277T	P	-	1	0	MTERFD2	241684403	1.000000	0.71417	0.686000	0.30086	0.251000	0.25915	9.226000	0.95229	1.370000	0.46153	0.491000	0.48974	CCT		0.468	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			6	319	6	319	---	---	---	---
CHL1	10752	broad.mit.edu	37	3	367694	367694	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:367694C>A	ENST00000256509.2	+	4	786	c.144C>A	c.(142-144)ccC>ccA	p.P48P	CHL1_ENST00000397491.2_Silent_p.P48P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	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)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGCCTTTCCCTTCGATGAGT	0.348																																						ENST00000256509.2																			0				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93						c.(142-144)ccC>ccA		cell adhesion molecule L1-like							89.0	90.0	90.0					3																	367694		2202	4300	6502	SO:0001819	synonymous_variant	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:367694C>A	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.144C>A	3.37:g.367694C>A						CHL1_ENST00000397491.2_Silent_p.P48P	p.P48P	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	4	786	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	48			Ig-like C2-type 1.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000256509.2	37	c.144C>A	CCDS2556.1																																																																																				0.348	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		5	140	5	140	---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1424996	1424996	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:1424996G>T	ENST00000446702.2	+	19	3048	c.2421G>T	c.(2419-2421)agG>agT	p.R807S	CNTN6_ENST00000350110.2_Missense_Mutation_p.R807S|CNTN6_ENST00000539053.1_Missense_Mutation_p.R735S			Q9UQ52	CNTN6_HUMAN	contactin 6	807	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGGCCCCAAGGGGAACTTCTC	0.438																																						ENST00000446702.2																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(2419-2421)agG>agT		contactin 6							191.0	199.0	196.0					3																	1424996		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424996G>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2421G>T	3.37:g.1424996G>T	ENSP00000407822:p.Arg807Ser					CNTN6_ENST00000350110.2_Missense_Mutation_p.R807S|CNTN6_ENST00000539053.1_Missense_Mutation_p.R735S	p.R807S			Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	19	3048	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	807			Fibronectin type-III 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2421G>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	0.297	-0.976432	0.02215	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.56776	0.44;0.44;0.44	5.58	-3.6	0.04570	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.784111	0.11214	N	0.587419	T	0.15739	0.0379	N	0.00648	-1.295	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.37709	-0.9694	10	0.10636	T	0.68	.	9.015	0.36164	0.6217:0.0:0.248:0.1304	.	807	Q9UQ52	CNTN6_HUMAN	S	807;735;807	ENSP00000407822:R807S;ENSP00000442791:R735S;ENSP00000341882:R807S	ENSP00000341882:R807S	R	+	3	2	CNTN6	1399996	0.000000	0.05858	0.010000	0.14722	0.275000	0.26752	-0.837000	0.04377	-0.419000	0.07439	-0.229000	0.12294	AGG		0.438	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		8	448	8	448	---	---	---	---
SLC6A11	6538	broad.mit.edu	37	3	10976836	10976836	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:10976836C>A	ENST00000254488.2	+	13	1763	c.1697C>A	c.(1696-1698)cCg>cAg	p.P566Q		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	566					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)	p.P566Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CTCTGCATCCCGCTCTGGATC	0.602																																						ENST00000254488.2																			1	Substitution - Missense(1)	p.P566Q(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35						c.(1696-1698)cCg>cAg		solute carrier family 6 (neurotransmitter transporter), member 11							167.0	148.0	155.0					3																	10976836		2203	4300	6503	SO:0001583	missense	6538				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:10976836C>A	S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.1697C>A	3.37:g.10976836C>A	ENSP00000254488:p.Pro566Gln						p.P566Q	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.229)	13	1763	+			566					B2R6U6|Q8IYC9	Missense_Mutation	SNP	ENST00000254488.2	37	c.1697C>A	CCDS2602.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685445	0.88639	.	.	ENSG00000132164	ENST00000254488	T	0.80738	-1.41	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.94463	0.8218	H	0.99507	4.6	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.97183	0.9852	10	0.87932	D	0	.	17.1001	0.86647	0.0:1.0:0.0:0.0	.	566	P48066	S6A11_HUMAN	Q	566	ENSP00000254488:P566Q	ENSP00000254488:P566Q	P	+	2	0	SLC6A11	10951836	1.000000	0.71417	0.954000	0.39281	0.966000	0.64601	7.488000	0.81441	2.348000	0.79779	0.655000	0.94253	CCG		0.602	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251927.1	NM_014229		6	192	6	192	---	---	---	---
HDAC11	79885	broad.mit.edu	37	3	13538270	13538270	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:13538270C>A	ENST00000295757.3	+	4	470	c.287C>A	c.(286-288)cCc>cAc	p.P96H	HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000437379.2_Missense_Mutation_p.P68H|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000433119.1_Missense_Mutation_p.P68H	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	96	Histone deacetylase.				chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|oligodendrocyte development (GO:0014003)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						ACAGAAATCCCCCCCGTTATC	0.587											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295757.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						c.(286-288)cCc>cAc		histone deacetylase 11							94.0	91.0	92.0					3																	13538270		2203	4300	6503	SO:0001583	missense	79885				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	g.chr3:13538270C>A	AK025426	CCDS2615.1, CCDS46760.1	3p25.1	2008-07-18			ENSG00000163517	ENSG00000163517	3.5.1.98		19086	protein-coding gene	gene with protein product		607226				11948178	Standard	NM_001136041		Approved		uc003bxy.3	Q96DB2	OTTHUMG00000129800	ENST00000295757.3:c.287C>A	3.37:g.13538270C>A	ENSP00000295757:p.Pro96His		OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688	HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000437379.2_Missense_Mutation_p.P68H|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000433119.1_Missense_Mutation_p.P68H|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000522202.1_Intron	p.P96H	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN			4	470	+			96			Histone deacetylase.		B4DDK1|Q9H6I7|Q9H6X3|Q9NTC9	Missense_Mutation	SNP	ENST00000295757.3	37	c.287C>A	CCDS2615.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.945694	0.73672	.	.	ENSG00000163517	ENST00000433119;ENST00000295757;ENST00000458642;ENST00000405478;ENST00000416248;ENST00000455904;ENST00000437379	T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44	4.98	4.09	0.47781	Histone deacetylase domain (2);	0.190889	0.45867	D	0.000338	D	0.82683	0.5090	M	0.88979	2.995	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.998	D;D;D	0.87578	0.998;0.967;0.976	D	0.85511	0.1197	10	0.87932	D	0	-8.6173	11.5062	0.50468	0.0:0.9093:0.0:0.0907	.	68;68;96	Q658J9;B5MCV5;Q96DB2	.;.;HDA11_HUMAN	H	68;96;96;68;68;68;68	ENSP00000295757:P96H;ENSP00000405403:P96H;ENSP00000385252:P68H;ENSP00000396122:P68H;ENSP00000395188:P68H	ENSP00000295757:P96H	P	+	2	0	HDAC11	13513270	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.181000	0.65054	2.334000	0.79466	0.550000	0.68814	CCC		0.587	HDAC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252028.5	NM_024827		4	88	4	88	---	---	---	---
ZFYVE20	64145	broad.mit.edu	37	3	15131941	15131941	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:15131941C>A	ENST00000253699.3	-	5	867	c.254G>T	c.(253-255)gGg>gTg	p.G85V	ZFYVE20_ENST00000435849.3_Missense_Mutation_p.G85V|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.G85V|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	85					blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						AGGATCAACCCCTCCATAGCT	0.443																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(253-255)gGg>gTg		zinc finger, FYVE domain containing 20							178.0	161.0	167.0					3																	15131941		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15131941C>A	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.254G>T	3.37:g.15131941C>A	ENSP00000253699:p.Gly85Val					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.G85V|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.G85V|ZFYVE20_ENST00000449964.2_5'UTR	p.G85V	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			5	867	-			85					B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.254G>T	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982536	0.93044	.	.	ENSG00000131381	ENST00000253699;ENST00000476527;ENST00000435849	T;T;T	0.72725	0.56;0.56;-0.68	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.976;0.982	T	0.82155	-0.0597	10	0.59425	D	0.04	-34.5623	19.8437	0.96701	0.0:1.0:0.0:0.0	.	85;85	B4DWY8;Q9H1K0	.;RBNS5_HUMAN	V	85	ENSP00000253699:G85V;ENSP00000422551:G85V;ENSP00000391039:G85V	ENSP00000253699:G85V	G	-	2	0	ZFYVE20	15106945	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.482000	0.81143	2.693000	0.91896	0.585000	0.79938	GGG		0.443	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		6	201	6	201	---	---	---	---
RFTN1	23180	broad.mit.edu	37	3	16358387	16358387	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:16358387C>A	ENST00000334133.4	-	10	1957	c.1685G>T	c.(1684-1686)aGg>aTg	p.R562M	RFTN1_ENST00000432519.1_Missense_Mutation_p.R526M|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000544043.1_Intron|RP11-415F23.2_ENST00000607464.1_RNA|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000435829.2_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	562					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATCCCCGTCCCTGGCATCCTC	0.567																																						ENST00000334133.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						c.(1684-1686)aGg>aTg		raftlin, lipid raft linker 1							140.0	148.0	145.0					3																	16358387		2203	4299	6502	SO:0001583	missense	23180					plasma membrane		g.chr3:16358387C>A	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1685G>T	3.37:g.16358387C>A	ENSP00000334153:p.Arg562Met					OXNAD1_ENST00000544043.1_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.R526M|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000605932.1_Intron	p.R562M	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN			10	1957	-			562					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.1685G>T	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.396697	0.25205	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.36520	1.25;1.28	4.08	0.904	0.19302	.	1.836400	0.02539	N	0.094403	T	0.39489	0.1080	L	0.44542	1.39	0.09310	N	0.999997	P;P	0.49447	0.924;0.924	P;P	0.44772	0.46;0.46	T	0.46373	-0.9196	10	0.49607	T	0.09	1.5609	11.7944	0.52090	0.0:0.4709:0.5291:0.0	.	526;562	G3XAJ6;Q14699	.;RFTN1_HUMAN	M	526;562	ENSP00000403926:R526M;ENSP00000334153:R562M	ENSP00000334153:R562M	R	-	2	0	RFTN1	16333391	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.043000	0.12043	0.042000	0.15717	0.563000	0.77884	AGG		0.567	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		7	388	7	388	---	---	---	---
OXSM	54995	broad.mit.edu	37	3	25833460	25833460	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:25833460C>A	ENST00000280701.3	+	2	1048	c.949C>A	c.(949-951)Cct>Act	p.P317T	OXSM_ENST00000420173.2_Missense_Mutation_p.P234T|NGLY1_ENST00000417874.2_5'Flank	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	317					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CATAACTGCCCCTGATCCTGA	0.428																																						ENST00000280701.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(949-951)Cct>Act		3-oxoacyl-ACP synthase, mitochondrial							77.0	82.0	80.0					3																	25833460		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25833460C>A	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.949C>A	3.37:g.25833460C>A	ENSP00000280701:p.Pro317Thr					OXSM_ENST00000420173.2_Missense_Mutation_p.P234T	p.P317T	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN			2	1048	+			317						Missense_Mutation	SNP	ENST00000280701.3	37	c.949C>A	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516287	0.85495	.	.	ENSG00000151093	ENST00000280701;ENST00000420173	.	.	.	6.05	6.05	0.98169	Beta-ketoacyl synthase, C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.098437	0.64402	D	0.000001	D	0.89347	0.6689	H	0.94658	3.565	0.43036	D	0.994613	D;D	0.76494	0.997;0.999	D;D	0.72625	0.976;0.978	D	0.91223	0.5008	9	0.87932	D	0	-20.2326	20.6013	0.99457	0.0:1.0:0.0:0.0	.	234;317	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	T	317;234	.	ENSP00000280701:P317T	P	+	1	0	OXSM	25808464	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	7.786000	0.85741	2.878000	0.98634	0.650000	0.86243	CCT		0.428	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		6	205	6	205	---	---	---	---
SLC4A7	9497	broad.mit.edu	37	3	27436109	27436109	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:27436109C>A	ENST00000295736.5	-	20	3060	c.2990G>T	c.(2989-2991)gGg>gTg	p.G997V	SLC4A7_ENST00000455077.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G989V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G882V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G873V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G547V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G1006V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	997					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	GGGTTGTTCCCCTGGAGCAGA	0.433																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2989-2991)gGg>gTg		solute carrier family 4, sodium bicarbonate cotransporter, member 7							89.0	87.0	88.0					3																	27436109		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27436109C>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2990G>T	3.37:g.27436109C>A	ENSP00000295736:p.Gly997Val					SLC4A7_ENST00000437179.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G993V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G882V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G547V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G878V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.G873V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G1006V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G989V	p.G997V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			20	3060	-			997					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2990G>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	C	32	5.119261	0.94385	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	5.77	5.77	0.91146	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96923	0.8995	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.97797	1.0242	10	0.87932	D	0	.	19.9946	0.97381	0.0:1.0:0.0:0.0	.	993;878;989;993;1006;547;873;997;878	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	V	548;997;873;1006;993;878;989;878;993;882;547;893	ENSP00000411031:G548V;ENSP00000295736:G997V;ENSP00000416368:G873V;ENSP00000390394:G1006V;ENSP00000414797:G993V;ENSP00000394252:G878V;ENSP00000406605:G989V;ENSP00000407382:G878V;ENSP00000406804:G993V;ENSP00000395336:G882V;ENSP00000373429:G547V;ENSP00000388703:G893V	ENSP00000295736:G997V	G	-	2	0	SLC4A7	27411113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.728000	0.93425	0.591000	0.81541	GGG		0.433	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		5	166	5	166	---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31710260	31710260	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:31710260C>A	ENST00000396556.2	-	10	2092	c.1970G>T	c.(1969-1971)gGg>gTg	p.G657V	OSBPL10_ENST00000438237.2_Missense_Mutation_p.G593V	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	657					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ATTCCATTCCCCATGGGCTTT	0.418																																						ENST00000396556.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1969-1971)gGg>gTg		oxysterol binding protein-like 10							283.0	241.0	255.0					3																	31710260		2203	4300	6503	SO:0001583	missense	114884				lipid transport		lipid binding	g.chr3:31710260C>A	AF392451	CCDS2651.1, CCDS54559.1	3p23	2013-01-10			ENSG00000144645	ENSG00000144645		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16395	protein-coding gene	gene with protein product		606738					Standard	NM_001174060		Approved		uc021wuu.1	Q9BXB5	OTTHUMG00000130672	ENST00000396556.2:c.1970G>T	3.37:g.31710260C>A	ENSP00000379804:p.Gly657Val					OSBPL10_ENST00000438237.2_Missense_Mutation_p.G593V	p.G657V	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN		STAD - Stomach adenocarcinoma(1;0.00406)	10	2092	-			657					B4E212|Q9BTU5	Missense_Mutation	SNP	ENST00000396556.2	37	c.1970G>T	CCDS2651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.567314|4.567314	0.86439|0.86439	.|.	.|.	ENSG00000144645|ENSG00000144645	ENST00000396556;ENST00000438237|ENST00000429492	D;D|D	0.86956|0.87029	-2.19;-2.19|-2.2	4.87|4.87	4.87|4.87	0.63330|0.63330	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96272|0.96272	0.8784|0.8784	H|H	0.97962|0.97962	4.115|4.115	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.999;0.999|.	D|D	0.97320|0.97320	0.9943|0.9943	10|8	0.87932|0.56958	D|D	0|0.05	-31.5897|-31.5897	18.902|18.902	0.92446|0.92446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	593;657;425|.	B4E212;Q9BXB5;Q59ED9|.	.;OSB10_HUMAN;.|.	V|W	657;593|426	ENSP00000379804:G657V;ENSP00000406124:G593V|ENSP00000416078:G426W	ENSP00000379804:G657V|ENSP00000416078:G426W	G|G	-|-	2|1	0|0	OSBPL10|OSBPL10	31685264|31685264	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	7.776000|7.776000	0.85560|0.85560	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.418	OSBPL10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253165.2			8	345	8	345	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37388772	37388772	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:37388772G>T	ENST00000361924.2	+	21	6935	c.6561G>T	c.(6559-6561)atG>atT	p.M2187I	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.M2202I	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2187	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTATATGATGGGTCGTGAGA	0.363																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(6559-6561)atG>atT		golgin A4							114.0	108.0	110.0					3																	37388772		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37388772G>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6561G>T	3.37:g.37388772G>T	ENSP00000354486:p.Met2187Ile					GOLGA4_ENST00000356847.4_Missense_Mutation_p.M2202I|GOLGA4_ENST00000444882.1_Intron	p.M2187I	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN			21	6935	+			2187			GRIP.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.6561G>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011992	0.75046	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.34667	1.41;1.4;1.35	5.48	4.59	0.56863	GRIP (5);	0.000000	0.39834	N	0.001259	T	0.47948	0.1473	M	0.63843	1.955	0.42902	D	0.994239	B;B;P	0.49696	0.033;0.008;0.927	B;B;P	0.51657	0.046;0.009;0.676	T	0.50882	-0.8775	10	0.52906	T	0.07	.	14.3987	0.67027	0.0:0.0:0.8506:0.1493	.	2187;2202;2187	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	I	2187;2202;2058	ENSP00000354486:M2187I;ENSP00000349305:M2202I;ENSP00000405842:M2058I	ENSP00000349305:M2202I	M	+	3	0	GOLGA4	37363776	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.752000	0.85141	1.277000	0.44412	0.455000	0.32223	ATG		0.363	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		5	168	5	168	---	---	---	---
DLEC1	9940	broad.mit.edu	37	3	38138188	38138188	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:38138188G>T	ENST00000308059.6	+	15	2321	c.2300G>T	c.(2299-2301)gGg>gTg	p.G767V	DLEC1_ENST00000346219.3_Missense_Mutation_p.G767V|DLEC1_ENST00000452631.2_Missense_Mutation_p.G767V					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATCATCCCAGGGGAGAACTAC	0.488																																						ENST00000308059.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(2299-2301)gGg>gTg		deleted in lung and esophageal cancer 1							149.0	146.0	147.0					3																	38138188		1968	4164	6132	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38138188G>T	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.2300G>T	3.37:g.38138188G>T	ENSP00000308597:p.Gly767Val					DLEC1_ENST00000346219.3_Missense_Mutation_p.G767V|DLEC1_ENST00000452631.2_Missense_Mutation_p.G767V	p.G767V			Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	15	2321	+			767						Missense_Mutation	SNP	ENST00000308059.6	37	c.2300G>T	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	28.5	4.923759	0.92319	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.09538	2.99;2.97;3.23	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74023	0.982;0.982;0.982	T	0.13522	-1.0506	10	0.66056	D	0.02	-30.9718	17.2825	0.87132	0.0:0.0:1.0:0.0	.	767;767;767	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	V	767	ENSP00000308597:G767V;ENSP00000315914:G767V;ENSP00000410427:G767V	ENSP00000308597:G767V	G	+	2	0	DLEC1	38113192	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	8.456000	0.90359	2.427000	0.82271	0.655000	0.94253	GGG		0.488	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		6	319	6	319	---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38167373	38167373	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:38167373C>A	ENST00000333167.8	-	10	1170		c.e10-1		ACAA1_ENST00000480865.1_Splice_Site|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000301810.7_Splice_Site|ACAA1_ENST00000450296.1_Splice_Site	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)		ACTGTCAGCCCTGCAGACAAG	0.582																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.e10-1		acetyl-CoA acyltransferase 1							139.0	125.0	130.0					3																	38167373		2203	4300	6503	SO:0001630	splice_region_variant	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38167373C>A	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	ENST00000333167.8:c.998-1G>T	3.37:g.38167373C>A						ACAA1_ENST00000480865.1_Splice_Site|ACAA1_ENST00000301810.7_Splice_Site|ACAA1_ENST00000450296.1_Splice_Site		NM_001607.3	NP_001598.1	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	10	1170	-								G5E935|Q96CA6	Splice_Site	SNP	ENST00000333167.8	37		CCDS2673.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123172	0.77436	.	.	ENSG00000060971	ENST00000333167;ENST00000301810;ENST00000450296;ENST00000452171;ENST00000358122;ENST00000421218	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0783	0.93171	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACAA1	38142377	1.000000	0.71417	1.000000	0.80357	0.807000	0.45602	7.369000	0.79578	2.504000	0.84457	0.655000	0.94253	.		0.582	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607	Intron	4	142	4	142	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39227674	39227674	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:39227674G>T	ENST00000340369.3	-	2	3491	c.3263C>A	c.(3262-3264)cCc>cAc	p.P1088H	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P1088H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1088					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GTCCTGGATGGGGTTGGAAGT	0.597																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(3262-3264)cCc>cAc		xin actin-binding repeat containing 1							54.0	53.0	53.0					3																	39227674		2201	4300	6501	SO:0001583	missense	165904						actin binding	g.chr3:39227674G>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3263C>A	3.37:g.39227674G>T	ENSP00000343140:p.Pro1088His					XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P1088H	p.P1088H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3491	-			1088					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.3263C>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354550	0.24512	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05717	3.4;3.72	4.67	2.79	0.32731	.	1.674610	0.04148	U	0.320715	T	0.10035	0.0246	L	0.47716	1.5	0.18873	N	0.999984	B;B	0.15141	0.012;0.009	B;B	0.14578	0.011;0.007	T	0.41466	-0.9507	10	0.87932	D	0	.	11.4502	0.50147	0.0:0.0:0.6732:0.3267	.	1088;1088	Q702N8;Q702N8-2	XIRP1_HUMAN;.	H	1088	ENSP00000379550:P1088H;ENSP00000343140:P1088H	ENSP00000343140:P1088H	P	-	2	0	XIRP1	39202678	0.005000	0.15991	0.009000	0.14445	0.245000	0.25701	1.431000	0.34925	0.656000	0.30886	0.650000	0.86243	CCC		0.597	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		5	133	5	133	---	---	---	---
ENTPD3	956	broad.mit.edu	37	3	40456250	40456250	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:40456250G>T	ENST00000301825.3	+	6	634	c.516G>T	c.(514-516)agG>agT	p.R172S	ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.R172S|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000456402.1_Missense_Mutation_p.R172S	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	172					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TTGACTTTAGGGGTGCTCAAA	0.428																																						ENST00000301825.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(514-516)agG>agT		ectonucleoside triphosphate diphosphohydrolase 3							174.0	171.0	172.0					3																	40456250		2203	4300	6503	SO:0001583	missense	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40456250G>T	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.516G>T	3.37:g.40456250G>T	ENSP00000301825:p.Arg172Ser					ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Missense_Mutation_p.R172S|ENTPD3_ENST00000456402.1_Missense_Mutation_p.R172S	p.R172S	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	6	634	+			172					B2R8D0|G5E9N0|O60495|Q8N6K2	Missense_Mutation	SNP	ENST00000301825.3	37	c.516G>T	CCDS2691.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724842	0.68959	.	.	ENSG00000168032	ENST00000301825;ENST00000456402;ENST00000445129	T;T;T	0.10573	2.86;2.86;2.86	5.61	4.73	0.59995	.	0.095075	0.85682	D	0.000000	T	0.19927	0.0479	L	0.59436	1.845	0.40767	D	0.983055	D	0.63046	0.992	D	0.64042	0.921	T	0.18999	-1.0319	10	0.07482	T	0.82	-24.7604	8.6855	0.34234	0.1707:0.0:0.8293:0.0	.	172	O75355	ENTP3_HUMAN	S	172	ENSP00000301825:R172S;ENSP00000401565:R172S;ENSP00000404671:R172S	ENSP00000301825:R172S	R	+	3	2	ENTPD3	40431254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.192000	0.50989	1.521000	0.48983	0.655000	0.94253	AGG		0.428	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248		6	344	6	344	---	---	---	---
CTNNB1	1499	broad.mit.edu	37	3	41275023	41275023	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:41275023G>T	ENST00000349496.5	+	9	1469	c.1189G>T	c.(1189-1191)Ggg>Tgg	p.G397W	CTNNB1_ENST00000453024.1_Missense_Mutation_p.G390W|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G397W	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	397					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		TCCATAGGAAGGGATGGAAGG	0.428		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(1189-1191)Ggg>Tgg		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						134.0	127.0	129.0					3																	41275023		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41275023G>T	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1189G>T	3.37:g.41275023G>T	ENSP00000344456:p.Gly397Trp					CTNNB1_ENST00000396183.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G397W|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G397W|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G390W	p.G397W	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	9	1469	+			397					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.1189G>T	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125605	0.77436	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	M	0.74647	2.275	0.80722	D	1	D;D	0.67145	0.991;0.996	P;P	0.54544	0.755;0.755	T	0.78298	-0.2258	10	0.87932	D	0	-23.1707	20.1865	0.98220	0.0:0.0:1.0:0.0	.	325;397	B4DSW9;P35222	.;CTNB1_HUMAN	W	397;397;397;390;397	ENSP00000385604:G397W;ENSP00000379486:G397W;ENSP00000344456:G397W;ENSP00000411226:G390W;ENSP00000379488:G397W	ENSP00000344456:G397W	G	+	1	0	CTNNB1	41250027	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.062000	0.89475	2.775000	0.95449	0.655000	0.94253	GGG		0.428	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		6	329	6	329	---	---	---	---
ZNF197	10168	broad.mit.edu	37	3	44673623	44673623	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:44673623C>A	ENST00000396058.1	+	3	744	c.577C>A	c.(577-579)Ctt>Att	p.L193I	ZNF197_ENST00000383744.4_Missense_Mutation_p.L193I|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.L193I|ZNF197_ENST00000383745.2_Missense_Mutation_p.L193I			O14709	ZN197_HUMAN	zinc finger protein 197	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGCTTCTGCCCTTTCCCAGGA	0.498																																						ENST00000396058.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(577-579)Ctt>Att		zinc finger protein 197							208.0	210.0	209.0					3																	44673623		2203	4300	6503	SO:0001583	missense	10168				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44673623C>A	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.577C>A	3.37:g.44673623C>A	ENSP00000379370:p.Leu193Ile					ZNF197_ENST00000383745.2_Missense_Mutation_p.L193I|ZNF197_ENST00000383744.4_Missense_Mutation_p.L193I|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.L193I	p.L193I			O14709	ZN197_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)	3	744	+			193					B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	c.577C>A	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187319	0.57909	.	.	ENSG00000186448	ENST00000383744;ENST00000536299;ENST00000344387;ENST00000383745;ENST00000396058	T;T;T;T	0.08458	5.38;3.09;5.38;3.09	5.55	4.63	0.57726	.	0.476584	0.15701	N	0.248930	T	0.17195	0.0413	L	0.32530	0.975	0.22017	N	0.999413	P;D	0.58268	0.929;0.982	B;D	0.67548	0.296;0.952	T	0.06427	-1.0827	10	0.37606	T	0.19	.	12.9484	0.58386	0.0:0.8367:0.1633:0.0	.	193;193	Q86VG0;O14709	.;ZN197_HUMAN	I	193	ENSP00000373250:L193I;ENSP00000345809:L193I;ENSP00000373251:L193I;ENSP00000379370:L193I	ENSP00000345809:L193I	L	+	1	0	ZNF197	44648627	0.987000	0.35691	1.000000	0.80357	0.978000	0.69477	1.273000	0.33121	2.764000	0.94973	0.591000	0.81541	CTT		0.498	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991		7	475	7	475	---	---	---	---
LTF	4057	broad.mit.edu	37	3	46492139	46492139	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:46492139C>A	ENST00000231751.4	-	7	1023	c.728G>T	c.(727-729)aGg>aTg	p.R243M	LTF_ENST00000426532.2_Missense_Mutation_p.R199M|LTF_ENST00000417439.1_Missense_Mutation_p.R243M	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	243	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		ATACTCGTCCCTTTCAGCCTC	0.557																																						ENST00000231751.4																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40						c.(727-729)aGg>aTg		lactotransferrin	Pefloxacin(DB00487)						134.0	120.0	125.0					3																	46492139		2203	4296	6499	SO:0001583	missense	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46492139C>A		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.728G>T	3.37:g.46492139C>A	ENSP00000231751:p.Arg243Met					LTF_ENST00000426532.2_Missense_Mutation_p.R199M|LTF_ENST00000417439.1_Missense_Mutation_p.R243M	p.R243M	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	7	1023	-			243			Transferrin-like 1.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	ENST00000231751.4	37	c.728G>T	CCDS33747.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610823	0.28712	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.37584	1.19;1.19;1.19;1.19	4.9	2.1	0.27182	.	0.368607	0.33005	N	0.005400	T	0.49745	0.1575	M	0.74258	2.255	0.09310	N	1	D;D;D	0.76494	0.983;0.999;0.983	D;D;D	0.63957	0.917;0.92;0.917	T	0.34675	-0.9819	10	0.87932	D	0	-0.3962	4.416	0.11455	0.0:0.6135:0.1885:0.198	.	243;230;243	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	M	243;199;243;230	ENSP00000231751:R243M;ENSP00000405719:R199M;ENSP00000405546:R243M;ENSP00000397427:R230M	ENSP00000231751:R243M	R	-	2	0	LTF	46467143	0.055000	0.20627	0.002000	0.10522	0.030000	0.12068	1.227000	0.32576	0.739000	0.32628	0.655000	0.94253	AGG		0.557	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		6	168	6	168	---	---	---	---
RTP3	83597	broad.mit.edu	37	3	46542219	46542219	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:46542219C>A	ENST00000296142.3	+	2	1101	c.529C>A	c.(529-531)Cca>Aca	p.P177T		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	177					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		ATCTCAGACCCCAAGAGTACA	0.522																																						ENST00000296142.3																			0				endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10						c.(529-531)Cca>Aca		receptor (chemosensory) transporter protein 3							77.0	76.0	77.0					3																	46542219		2203	4300	6503	SO:0001583	missense	83597				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:46542219C>A	AJ312776	CCDS2740.1	3p21.3	2014-02-20	2006-11-21	2006-02-07	ENSG00000163825	ENSG00000163825		"""Receptor transporter proteins"""	15572	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 3"""	607181	"""transmembrane protein 7"", ""receptor transporter protein 3"""	TMEM7		16271481, 15550249, 16720576	Standard	NM_031440		Approved	LTM1, Z3CXXC3	uc003cps.1	Q9BQQ7	OTTHUMG00000133483	ENST00000296142.3:c.529C>A	3.37:g.46542219C>A	ENSP00000296142:p.Pro177Thr						p.P177T	NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)	2	1101	+			177					A2RRP6	Missense_Mutation	SNP	ENST00000296142.3	37	c.529C>A	CCDS2740.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.439336	0.43326	.	.	ENSG00000163825	ENST00000296142	T	0.19669	2.13	2.32	2.32	0.28847	.	1.354520	0.05314	N	0.525302	T	0.28001	0.0690	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	P	0.59115	0.852	T	0.33497	-0.9866	10	0.54805	T	0.06	-9.8694	8.2419	0.31665	0.0:1.0:0.0:0.0	.	177	Q9BQQ7	RTP3_HUMAN	T	177	ENSP00000296142:P177T	ENSP00000296142:P177T	P	+	1	0	RTP3	46517223	0.005000	0.15991	0.012000	0.15200	0.052000	0.14988	0.581000	0.23819	1.605000	0.50152	0.462000	0.41574	CCA		0.522	RTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257379.2	NM_031440		5	152	5	152	---	---	---	---
MAP4	4134	broad.mit.edu	37	3	47951275	47951275	+	Intron	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:47951275C>A	ENST00000360240.6	-	8	2518				MAP4_ENST00000264724.11_Missense_Mutation_p.G153W|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Missense_Mutation_p.G1563W	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	ATCACATGCCCTTCATCGATC	0.438																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(4687-4689)Ggg>Tgg		microtubule-associated protein 4							109.0	104.0	105.0					3																	47951275		1988	4165	6153	SO:0001627	intron_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47951275C>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1999+5031G>T	3.37:g.47951275C>A						MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.G153W|MAP4_ENST00000360240.6_Intron	p.G1563W			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	10	4774	-			933					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.4687G>T	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.108284	0.37242	.	.	ENSG00000047849	ENST00000264724;ENST00000426837;ENST00000383736	T;T	0.60920	0.15;2.11	4.87	3.0	0.34707	.	.	.	.	.	T	0.69949	0.3168	.	.	.	0.09310	N	1	D;D	0.69078	0.997;0.996	D;D	0.74348	0.983;0.962	T	0.56177	-0.8022	7	.	.	.	.	8.27	0.31838	0.0:0.8042:0.0:0.1958	.	153;153	P27816-4;E9PGM5	.;.	W	153;1563;153	ENSP00000264724:G153W;ENSP00000407602:G1563W	.	G	-	1	0	MAP4	47926279	0.000000	0.05858	0.062000	0.19696	0.765000	0.43378	0.076000	0.14712	1.232000	0.43678	0.462000	0.41574	GGG		0.438	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		5	206	5	206	---	---	---	---
ATRIP	84126	broad.mit.edu	37	3	48506045	48506045	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:48506045G>T	ENST00000320211.3	+	11	2152	c.2039G>T	c.(2038-2040)tGc>tTc	p.C680F	ATRIP_ENST00000346691.4_Intron|ATRIP_ENST00000357105.6_Missense_Mutation_p.C553F|ATRIP_ENST00000412052.1_Missense_Mutation_p.C587F|TREX1_ENST00000456089.1_5'Flank|TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000296443.9_5'Flank|TREX1_ENST00000444177.1_5'Flank|TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000436480.2_5'Flank	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	680					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.C680F(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCTCCAACTGCCAGTGTAAT	0.607								Other conserved DNA damage response genes																														ENST00000412052.1																			1	Substitution - Missense(1)	p.C680F(1)	prostate(1)	central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22						c.(1759-1761)tGc>tTc	Other conserved DNA damage response genes	ATR interacting protein							106.0	97.0	100.0					3																	48506045		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48506045G>T	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.2039G>T	3.37:g.48506045G>T	ENSP00000323099:p.Cys680Phe					ATRIP_ENST00000357105.6_Missense_Mutation_p.C553F|ATRIP_ENST00000320211.3_Missense_Mutation_p.C680F|ATRIP_ENST00000346691.4_Intron	p.C587F	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	11	2222	+			680					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.1760G>T	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.406752	0.62399	.	.	ENSG00000164053	ENST00000320211;ENST00000357105;ENST00000412052	T;T;T	0.79141	-0.77;-1.24;-0.76	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.87637	0.6227	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88444	0.3044	10	0.87932	D	0	-9.7837	17.2199	0.86954	0.0:0.0:1.0:0.0	.	680	Q8WXE1	ATRIP_HUMAN	F	680;553;587	ENSP00000323099:C680F;ENSP00000349620:C553F;ENSP00000400930:C587F	ENSP00000323099:C680F	C	+	2	0	ATRIP	48481049	1.000000	0.71417	0.999000	0.59377	0.562000	0.35680	5.626000	0.67777	2.667000	0.90743	0.561000	0.74099	TGC		0.607	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		5	158	5	158	---	---	---	---
TREX1	11277	broad.mit.edu	37	3	48508890	48508890	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:48508890C>A	ENST00000422277.2	+	1	1662	c.1001C>A	c.(1000-1002)cCt>cAt	p.P334H	SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000456089.1_Missense_Mutation_p.P140H|TREX1_ENST00000296443.9_Missense_Mutation_p.P279H|TREX1_ENST00000444177.1_Missense_Mutation_p.P269H|TREX1_ENST00000433541.1_Missense_Mutation_p.P140H|TREX1_ENST00000436480.2_Missense_Mutation_p.P279H	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	334	Interaction with UBQLN1.|Necessary for endoplasmic reticulum localization. {ECO:0000250}.				cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTGAAGGACCCTGGAGCCCTA	0.602																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(835-837)cCt>cAt		three prime repair exonuclease 1							65.0	68.0	67.0					3																	48508890		2203	4300	6503	SO:0001583	missense	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508890C>A	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.1001C>A	3.37:g.48508890C>A	ENSP00000390478:p.Pro334His					TREX1_ENST00000456089.1_Missense_Mutation_p.P140H|TREX1_ENST00000422277.2_Missense_Mutation_p.P334H|TREX1_ENST00000436480.2_Missense_Mutation_p.P279H|TREX1_ENST00000444177.1_Missense_Mutation_p.P269H|TREX1_ENST00000433541.1_Missense_Mutation_p.P140H	p.P279H			Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1723	+			334					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Missense_Mutation	SNP	ENST00000422277.2	37	c.836C>A	CCDS43086.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.857638	0.51376	.	.	ENSG00000213689	ENST00000296443;ENST00000433541;ENST00000436480;ENST00000422277;ENST00000444177;ENST00000456089	T;T;T;T;T;T	0.63913	0.85;-0.07;0.85;0.75;0.86;-0.07	4.5	2.72	0.32119	.	.	.	.	.	T	0.62208	0.2409	L	0.57536	1.79	0.09310	N	1	P	0.47409	0.895	P	0.47915	0.561	T	0.53767	-0.8392	9	0.87932	D	0	.	7.5446	0.27759	0.0:0.7981:0.0:0.2019	.	334	Q9NSU2	TREX1_HUMAN	H	279;140;279;334;269;140	ENSP00000296443:P279H;ENSP00000412404:P140H;ENSP00000392569:P279H;ENSP00000390478:P334H;ENSP00000415972:P269H;ENSP00000411331:P140H	ENSP00000296443:P279H	P	+	2	0	TREX1	48483894	0.002000	0.14202	0.007000	0.13788	0.004000	0.04260	0.985000	0.29578	0.456000	0.26937	-0.222000	0.12452	CCT		0.602	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		5	112	5	112	---	---	---	---
CCDC71	64925	broad.mit.edu	37	3	49201177	49201177	+	Silent	SNP	C	C	A	rs142878485		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:49201177C>A	ENST00000321895.6	-	2	571	c.465G>T	c.(463-465)cgG>cgT	p.R155R		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	155										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CTGCTGCACCCCGGGCATGGC	0.592																																						ENST00000321895.6																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10						c.(463-465)cgG>cgT		coiled-coil domain containing 71		C		0,4406		0,0,2203	60.0	61.0	61.0		465	4.5	0.4	3	dbSNP_134	61	2,8598	3.0+/-9.4	0,2,4298	no	coding-synonymous	CCDC71	NM_022903.3		0,2,6501	AA,AC,CC		0.0233,0.0,0.0154		155/468	49201177	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	64925							g.chr3:49201177C>A	AK022862	CCDS2790.1	3p21.31	2014-02-12			ENSG00000177352	ENSG00000177352			25760	protein-coding gene	gene with protein product						12477932	Standard	NM_022903		Approved	FLJ12800	uc003cwg.4	Q8IV32	OTTHUMG00000156815	ENST00000321895.6:c.465G>T	3.37:g.49201177C>A							p.R155R	NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	2	571	-			155					Q6IPE2|Q9H8H4|Q9H9F1	Silent	SNP	ENST00000321895.6	37	c.465G>T	CCDS2790.1																																																																																				0.592	CCDC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345980.1	NM_022903		4	72	4	72	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49692404	49692404	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:49692404C>A	ENST00000296452.4	+	5	5529	c.5415C>A	c.(5413-5415)ccC>ccA	p.P1805P		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1805					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATAACCTACCCAACCAAGTAG	0.592																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(5413-5415)ccC>ccA		bassoon presynaptic cytomatrix protein							79.0	83.0	81.0					3																	49692404		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49692404C>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.5415C>A	3.37:g.49692404C>A							p.P1805P	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	5529	+			1805					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.5415C>A	CCDS2800.1																																																																																				0.592	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		6	198	6	198	---	---	---	---
ALAS1	211	broad.mit.edu	37	3	52240720	52240720	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52240720C>A	ENST00000394965.2	+	8	1478	c.1118C>A	c.(1117-1119)cCc>cAc	p.P373H	ALAS1_ENST00000469224.1_Missense_Mutation_p.P373H|ALAS1_ENST00000484952.1_Missense_Mutation_p.P373H|ALAS1_ENST00000310271.2_Missense_Mutation_p.P373H	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	373					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)	AGATCTGACCCCTCAGTCCCC	0.473																																						ENST00000394965.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(1117-1119)cCc>cAc		aminolevulinate, delta-, synthase 1	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						157.0	152.0	154.0					3																	52240720		2203	4300	6503	SO:0001583	missense	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52240720C>A	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.1118C>A	3.37:g.52240720C>A	ENSP00000378416:p.Pro373His					ALAS1_ENST00000484952.1_Missense_Mutation_p.P373H|ALAS1_ENST00000310271.2_Missense_Mutation_p.P373H|ALAS1_ENST00000469224.1_Missense_Mutation_p.P373H	p.P373H	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	8	1478	+			373						Missense_Mutation	SNP	ENST00000394965.2	37	c.1118C>A	CCDS2847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.824847|4.824847	0.90955|0.90955	.|.	.|.	ENSG00000023330|ENSG00000023330	ENST00000469224;ENST00000394965;ENST00000310271;ENST00000484952|ENST00000493402	D;D;D;D|D	0.90732|0.95342	-2.72;-2.72;-2.72;-2.72|-3.68	5.42|5.42	5.42|5.42	0.78866|0.78866	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.96194|0.96194	0.8759|0.8759	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.77557|.	0.99;0.99|.	D|D	0.94556|0.94556	0.7758|0.7758	10|8	0.72032|0.17369	D|T	0.01|0.5	-22.6233|-22.6233	19.2364|19.2364	0.93862|0.93862	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	390;373|.	B4DVA0;P13196|.	.;HEM1_HUMAN|.	H|T	373|25	ENSP00000417719:P373H;ENSP00000378416:P373H;ENSP00000309259:P373H;ENSP00000418779:P373H|ENSP00000417352:P25T	ENSP00000309259:P373H|ENSP00000417352:P25T	P|P	+|+	2|1	0|0	ALAS1|ALAS1	52215760|52215760	1.000000|1.000000	0.71417|0.71417	0.819000|0.819000	0.32651|0.32651	0.974000|0.974000	0.67602|0.67602	7.760000|7.760000	0.85248|0.85248	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.473	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			6	200	6	200	---	---	---	---
WDR82	80335	broad.mit.edu	37	3	52293888	52293888	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52293888C>A	ENST00000296490.3	-	6	825	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	182					histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		GCAAATGGCCCCTGCAAAAGA	0.403																																						ENST00000296490.3																			0											c.(544-546)Ggg>Tgg		WD repeat domain 82							95.0	89.0	91.0					3																	52293888		1851	4087	5938	SO:0001630	splice_region_variant	80335				histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding	g.chr3:52293888C>A	AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.544-1G>T	3.37:g.52293888C>A							p.G182W	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)	6	825	-			182					A8K5R5|Q8TEB2	Splice_Site	SNP	ENST00000296490.3	37	c.544G>T	CCDS2851.2	.	.	.	.	.	.	.	.	.	.	C	32	5.109817	0.94292	.	.	ENSG00000164091	ENST00000296490;ENST00000469000	T;T	0.68479	2.21;-0.33	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88500	0.6453	H	0.95884	3.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.91496	0.5215	10	0.87932	D	0	-18.7219	19.8763	0.96873	0.0:1.0:0.0:0.0	.	182;68	Q6UXN9;C9JBU3	WDR82_HUMAN;.	W	182;68	ENSP00000296490:G182W;ENSP00000420779:G68W	ENSP00000296490:G182W	G	-	1	0	WDR82	52268928	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.616000	0.83018	2.703000	0.92315	0.591000	0.81541	GGG		0.403	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317919.1	NM_025222	Missense_Mutation	6	224	6	224	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52547910	52547910	+	Silent	SNP	C	C	A	rs370365365		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52547910C>A	ENST00000321725.6	+	32	3436	c.3360C>A	c.(3358-3360)ccC>ccA	p.P1120P		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1120					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCTTACTGCCCCCCCGAGGGG	0.622																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(3358-3360)ccC>ccA		stabilin 1							161.0	157.0	159.0					3																	52547910		2203	4300	6503	SO:0001819	synonymous_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52547910C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3360C>A	3.37:g.52547910C>A							p.P1120P	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	32	3436	+			1120					A7E297|Q8IUH0|Q8IUH1|Q93072	Silent	SNP	ENST00000321725.6	37	c.3360C>A	CCDS33768.1																																																																																				0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		9	354	9	354	---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52557149	52557149	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:52557149G>T	ENST00000321725.6	+	63	7095	c.7019G>T	c.(7018-7020)gGg>gTg	p.G2340V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2340	FAS1 7. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACCTTCTATGGGGTGTGTGGG	0.622																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(7018-7020)gGg>gTg		stabilin 1							59.0	64.0	62.0					3																	52557149		2203	4299	6502	SO:0001630	splice_region_variant	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52557149G>T	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7020+1G>T	3.37:g.52557149G>T							p.G2340V	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	63	7095	+			2340			FAS1 7.		A7E297|Q8IUH0|Q8IUH1|Q93072	Splice_Site	SNP	ENST00000321725.6	37	c.7019G>T	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618492	0.46736	.	.	ENSG00000010327	ENST00000321725	D	0.91843	-2.92	5.74	0.319	0.15873	FAS1 domain (3);	0.680417	0.15028	N	0.284621	D	0.87861	0.6284	L	0.60455	1.87	0.45883	D	0.998731	P;P	0.36616	0.554;0.561	B;B	0.38106	0.265;0.189	T	0.79097	-0.1943	10	0.28530	T	0.3	.	6.3549	0.21397	0.3207:0.4044:0.2749:0.0	.	227;2340	B3KSK0;Q9NY15	.;STAB1_HUMAN	V	2340	ENSP00000312946:G2340V	ENSP00000312946:G2340V	G	+	2	0	STAB1	52532189	0.621000	0.27077	0.917000	0.36280	0.897000	0.52465	0.103000	0.15292	0.036000	0.15547	0.561000	0.74099	GGG		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	Missense_Mutation	5	91	5	91	---	---	---	---
ACTR8	93973	broad.mit.edu	37	3	53905310	53905310	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:53905310C>A	ENST00000335754.3	-	11	1616	c.1516G>T	c.(1516-1518)Gga>Tga	p.G506*	ACTR8_ENST00000488802.1_5'Flank|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.G395*|ACTR8_ENST00000231909.7_Nonsense_Mutation_p.G211*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	506					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.G506*(1)|p.G211*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AGGGCTTTTCCTTCAAACAGC	0.547																																						ENST00000335754.3																			2	Substitution - Nonsense(2)	p.G506*(1)|p.G211*(1)	prostate(2)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(1516-1518)Gga>Tga		ARP8 actin-related protein 8 homolog (yeast)							104.0	102.0	102.0					3																	53905310		2203	4300	6503	SO:0001587	stop_gained	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53905310C>A		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.1516G>T	3.37:g.53905310C>A	ENSP00000336842:p.Gly506*					ACTR8_ENST00000231909.7_Nonsense_Mutation_p.G211*|ACTR8_ENST00000482349.1_Nonsense_Mutation_p.G395*	p.G506*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	11	1616	-			506					B3KSW7|Q8N566|Q9H663	Nonsense_Mutation	SNP	ENST00000335754.3	37	c.1516G>T	CCDS2875.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.120767|6.120767	0.97300|0.97300	.|.	.|.	ENSG00000113812|ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000231909|ENST00000486794	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.048846|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74527	.|0.3728	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72537	.|-0.4263	.|3	0.18276|.	T|.	0.48|.	-11.7537|-11.7537	17.9356|17.9356	0.89011|0.89011	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	506;395;211|259	.|.	ENSP00000231909:G211X|.	G|K	-|-	1|3	0|2	ACTR8|ACTR8	53880350|53880350	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.530000|4.530000	0.60595|0.60595	2.674000|2.674000	0.91012|0.91012	0.655000|0.655000	0.94253|0.94253	GGA|AAG		0.547	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		6	234	6	234	---	---	---	---
ACTR8	93973	broad.mit.edu	37	3	53912392	53912392	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:53912392G>T	ENST00000335754.3	-	3	497	c.397C>A	c.(397-399)Cct>Act	p.P133T	ACTR8_ENST00000482349.1_Missense_Mutation_p.P22T|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	133					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ACCTGTTCAGGGGACACAGGA	0.363																																						ENST00000335754.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19						c.(397-399)Cct>Act		ARP8 actin-related protein 8 homolog (yeast)							328.0	296.0	307.0					3																	53912392		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53912392G>T		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.397C>A	3.37:g.53912392G>T	ENSP00000336842:p.Pro133Thr					ACTR8_ENST00000482349.1_Missense_Mutation_p.P22T	p.P133T	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	3	497	-			133					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.397C>A	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811539	0.70797	.	.	ENSG00000113812	ENST00000335754;ENST00000482349;ENST00000498740	D;D	0.96265	-3.9;-3.96	5.83	5.83	0.93111	.	0.051336	0.85682	D	0.000000	D	0.95705	0.8603	L	0.42529	1.33	0.80722	D	1	P	0.44309	0.832	P	0.51415	0.669	D	0.93649	0.6971	10	0.13108	T	0.6	-19.8851	18.3161	0.90221	0.0:0.0:1.0:0.0	.	133	Q9H981	ARP8_HUMAN	T	133;22;22	ENSP00000336842:P133T;ENSP00000419429:P22T	ENSP00000336842:P133T	P	-	1	0	ACTR8	53887432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.886000	0.75611	2.755000	0.94549	0.650000	0.86243	CCT		0.363	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		7	425	7	425	---	---	---	---
SLMAP	7871	broad.mit.edu	37	3	57882650	57882650	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:57882650C>A	ENST00000428312.1	+	15	1535	c.1441C>A	c.(1441-1443)Ctt>Att	p.L481I	SLMAP_ENST00000416870.1_Missense_Mutation_p.L15I|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000494088.1_Missense_Mutation_p.L15I|SLMAP_ENST00000495364.1_Missense_Mutation_p.L15I|SLMAP_ENST00000295952.3_Missense_Mutation_p.L464I|SLMAP_ENST00000295951.3_Missense_Mutation_p.L464I|SLMAP_ENST00000449503.2_Missense_Mutation_p.L443I|SLMAP_ENST00000383718.3_Missense_Mutation_p.L477I|SLMAP_ENST00000442599.2_Missense_Mutation_p.L15I			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	481					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)		p.L464F(1)		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)		CAAAGTGTCCCTTTTAAAAGG	0.343																																						ENST00000383718.3																			1	Substitution - Missense(1)	p.L464F(1)	endometrium(1)	endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18						c.(1429-1431)Ctt>Att		sarcolemma associated protein							138.0	138.0	138.0					3																	57882650		2203	4300	6503	SO:0001583	missense	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57882650C>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.1441C>A	3.37:g.57882650C>A	ENSP00000398661:p.Leu481Ile					SLMAP_ENST00000442599.2_Missense_Mutation_p.L15I|SLMAP_ENST00000494088.1_Missense_Mutation_p.L15I|SLMAP_ENST00000295951.3_Missense_Mutation_p.L464I|SLMAP_ENST00000449503.2_Missense_Mutation_p.L443I|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000416870.1_Missense_Mutation_p.L15I|SLMAP_ENST00000428312.1_Missense_Mutation_p.L481I|SLMAP_ENST00000495364.1_Missense_Mutation_p.L15I|SLMAP_ENST00000295952.3_Missense_Mutation_p.L464I	p.L477I			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)	15	1527	+			481					Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	ENST00000428312.1	37	c.1429C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.67|18.67	3.673702|3.673702	0.67928|0.67928	.|.	.|.	ENSG00000163681|ENSG00000163681	ENST00000295951;ENST00000295952;ENST00000416870;ENST00000383718;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364;ENST00000494088;ENST00000461354;ENST00000466255|ENST00000416658;ENST00000438794	T;T;T;T;T;T;T;T;T|.	0.64438|.	1.32;1.32;0.7;-0.1;1.31;1.3;0.99;0.35;0.72|.	6.06|6.06	4.27|4.27	0.50696|0.50696	.|.	0.065548|.	0.64402|.	D|.	0.000007|.	T|T	0.69602|0.69602	0.3129|0.3129	M|M	0.66939|0.66939	2.045|2.045	0.45676|0.45676	D|D	0.998594|0.998594	D;B;D;D;P;P;D;P;P|.	0.71674|.	0.993;0.0;0.998;0.996;0.917;0.95;0.994;0.95;0.84|.	D;B;D;D;P;P;P;P;P|.	0.87578|.	0.952;0.0;0.998;0.994;0.557;0.641;0.687;0.716;0.702|.	T|T	0.69566|0.69566	-0.5111|-0.5111	10|5	0.37606|.	T|.	0.19|.	-5.1839|-5.1839	12.1705|12.1705	0.54155|0.54155	0.0:0.8639:0.0:0.1361|0.0:0.8639:0.0:0.1361	.|.	15;15;15;15;75;443;481;464;477|.	B7Z863;C9JPE6;Q14BN4-5;Q14BN4-8;Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3;Q14BN4-6|.	.;.;.;.;.;.;SLMAP_HUMAN;.;.|.	I|H	464;464;15;477;481;443;75;15;15;15;15;15|88;59	ENSP00000295951:L464I;ENSP00000295952:L464I;ENSP00000412342:L15I;ENSP00000373224:L477I;ENSP00000398661:L481I;ENSP00000412945:L443I;ENSP00000388978:L15I;ENSP00000419543:L15I;ENSP00000418218:L15I|.	ENSP00000295951:L464I|.	L|P	+|+	1|2	0|0	SLMAP|SLMAP	57857690|57857690	0.990000|0.990000	0.36364|0.36364	0.999000|0.999000	0.59377|0.59377	0.982000|0.982000	0.71751|0.71751	2.350000|2.350000	0.44063|0.44063	1.580000|1.580000	0.49851|0.49851	0.655000|0.655000	0.94253|0.94253	CTT|CCT		0.343	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		6	236	6	236	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66467662	66467662	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:66467662C>A	ENST00000273261.3	-	4	918	c.394G>T	c.(394-396)Ggg>Tgg	p.G132W	LRIG1_ENST00000383703.3_Missense_Mutation_p.G132W	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	132					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGCTGGCTCCCCTCCACGCTG	0.483																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(394-396)Ggg>Tgg		leucine-rich repeats and immunoglobulin-like domains 1							225.0	203.0	211.0					3																	66467662		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66467662C>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.394G>T	3.37:g.66467662C>A	ENSP00000273261:p.Gly132Trp					LRIG1_ENST00000273261.3_Missense_Mutation_p.G132W	p.G132W			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	4	997	-		Lung NSC(201;0.0101)	132					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.394G>T	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295213	0.40594	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.57595	0.39;0.39	5.95	5.08	0.68730	.	0.294226	0.37261	N	0.002168	T	0.55737	0.1939	N	0.19112	0.55	0.36195	D	0.850357	D;D	0.71674	0.998;0.997	D;D	0.75020	0.985;0.913	T	0.66685	-0.5861	10	0.72032	D	0.01	.	10.4582	0.44563	0.0:0.7966:0.1338:0.0696	.	132;132	Q96JA1-2;Q96JA1	.;LRIG1_HUMAN	W	132;132;59	ENSP00000273261:G132W;ENSP00000373208:G132W	ENSP00000273261:G132W	G	-	1	0	LRIG1	66550352	0.278000	0.24230	0.946000	0.38457	0.031000	0.12232	2.895000	0.48648	1.533000	0.49186	0.643000	0.83706	GGG		0.483	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		7	369	7	369	---	---	---	---
C3orf38	285237	broad.mit.edu	37	3	88202481	88202481	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:88202481G>T	ENST00000318887.3	+	2	545	c.235G>T	c.(235-237)Ggg>Tgg	p.G79W	C3orf38_ENST00000464919.1_3'UTR|C3orf38_ENST00000486971.1_Missense_Mutation_p.G79W	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	79					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GGCAACACAGGGGATTGTTAT	0.398																																						ENST00000318887.3																			0				breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12						c.(235-237)Ggg>Tgg		chromosome 3 open reading frame 38							101.0	100.0	100.0					3																	88202481		2203	4300	6503	SO:0001583	missense	285237				apoptosis			g.chr3:88202481G>T	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.235G>T	3.37:g.88202481G>T	ENSP00000322469:p.Gly79Trp					C3orf38_ENST00000464919.1_3'UTR|C3orf38_ENST00000486971.1_Missense_Mutation_p.G79W	p.G79W	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	2	545	+		Lung NSC(201;0.17)	79					B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	c.235G>T	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839985	0.51057	.	.	ENSG00000179021	ENST00000318887;ENST00000486971	.	.	.	5.84	5.84	0.93424	.	0.104850	0.64402	D	0.000003	T	0.76877	0.4049	M	0.70275	2.135	0.51482	D	0.999929	D	0.76494	0.999	D	0.79108	0.992	T	0.78580	-0.2149	9	0.87932	D	0	-8.4264	12.4529	0.55686	0.0758:0.0:0.9241:0.0	.	79	Q5JPI3	CC038_HUMAN	W	79	.	ENSP00000322469:G79W	G	+	1	0	C3orf38	88285171	1.000000	0.71417	0.570000	0.28473	0.023000	0.10783	7.075000	0.76798	2.764000	0.94973	0.650000	0.86243	GGG		0.398	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		5	191	5	191	---	---	---	---
PROS1	5627	broad.mit.edu	37	3	93615462	93615462	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:93615462C>A	ENST00000394236.3	-	9	1239	c.923G>T	c.(922-924)gGg>gTg	p.G308V	PROS1_ENST00000407433.1_Missense_Mutation_p.G177V	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	308	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TAAAACAACCCCTGCAAACTG	0.373																																						ENST00000394236.3																			0				endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46						c.(922-924)gGg>gTg		protein S (alpha)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						76.0	83.0	81.0					3																	93615462		2199	4298	6497	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93615462C>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.923G>T	3.37:g.93615462C>A	ENSP00000377783:p.Gly308Val					PROS1_ENST00000407433.1_Missense_Mutation_p.G177V	p.G308V	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN			9	1239	-			308			Laminin G-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.923G>T	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345409	0.61073	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.83419	-1.72;-1.72	4.04	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.058242	0.64402	D	0.000002	D	0.86138	0.5861	M	0.85542	2.76	0.80722	D	1	D	0.59357	0.985	P	0.47786	0.557	D	0.86236	0.1640	10	0.29301	T	0.29	.	14.5297	0.67915	0.0:1.0:0.0:0.0	.	308	P07225	PROS_HUMAN	V	308;177	ENSP00000377783:G308V;ENSP00000385794:G177V	ENSP00000377783:G308V	G	-	2	0	PROS1	95098152	0.992000	0.36948	0.348000	0.25681	0.728000	0.41692	3.143000	0.50608	2.097000	0.63578	0.305000	0.20034	GGG		0.373	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		6	294	6	294	---	---	---	---
ARL13B	200894	broad.mit.edu	37	3	93769675	93769675	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:93769675G>T	ENST00000394222.3	+	9	1424	c.1149G>T	c.(1147-1149)tgG>tgT	p.W383C	ARL13B_ENST00000471138.1_Missense_Mutation_p.W383C|ARL13B_ENST00000539730.1_Missense_Mutation_p.W104C|ARL13B_ENST00000303097.7_Missense_Mutation_p.W276C|ARL13B_ENST00000535334.1_Missense_Mutation_p.W280C|DHFRL1_ENST00000481631.1_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	383	Pro-rich.				cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TAGTTGGCTGGGGAACCCCTA	0.378																																						ENST00000535334.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						c.(838-840)tgG>tgT		ADP-ribosylation factor-like 13B							72.0	73.0	73.0					3																	93769675		2203	4300	6503	SO:0001583	missense	200894						GTP binding	g.chr3:93769675G>T	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.1149G>T	3.37:g.93769675G>T	ENSP00000377769:p.Trp383Cys					ARL13B_ENST00000539730.1_Missense_Mutation_p.W104C|ARL13B_ENST00000471138.1_Missense_Mutation_p.W383C|ARL13B_ENST00000394222.3_Missense_Mutation_p.W383C|DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000303097.7_Missense_Mutation_p.W276C	p.W280C	NM_001174151.1	NP_001167622.1	Q3SXY8	AR13B_HUMAN			8	1363	+			383					D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.840G>T	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713684	0.68730	.	.	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138;ENST00000539730	T;T;T;T;T	0.72725	1.02;-0.68;-0.35;-0.35;0.25	5.47	5.47	0.80525	.	0.062950	0.64402	D	0.000002	D	0.83193	0.5201	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.986;0.942;0.994;0.942	D	0.84175	0.0436	10	0.62326	D	0.03	-0.9252	18.0865	0.89458	0.0:0.0:1.0:0.0	.	280;383;276;383	G3V1S8;B4DLH1;Q3SXY8-2;Q3SXY8	.;.;.;AR13B_HUMAN	C	280;276;383;383;104	ENSP00000445145:W280C;ENSP00000306225:W276C;ENSP00000377769:W383C;ENSP00000420780:W383C;ENSP00000437977:W104C	ENSP00000306225:W276C	W	+	3	0	ARL13B	95252365	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.100000	0.76989	2.583000	0.87209	0.655000	0.94253	TGG		0.378	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		5	132	5	132	---	---	---	---
NSUN3	63899	broad.mit.edu	37	3	93803223	93803223	+	Missense_Mutation	SNP	G	G	T	rs373585696		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:93803223G>T	ENST00000314622.4	+	3	606	c.395G>T	c.(394-396)gGg>gTg	p.G132V		NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	132							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TTAAGGGATGGGGAGAAGGTT	0.453																																						ENST00000314622.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						c.(394-396)gGg>gTg		NOP2/Sun domain family, member 3							98.0	100.0	100.0					3																	93803223		2202	4299	6501	SO:0001583	missense	63899						methyltransferase activity	g.chr3:93803223G>T	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.395G>T	3.37:g.93803223G>T	ENSP00000318986:p.Gly132Val						p.G132V	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN			3	606	+			132					Q6PG41|Q8IXG9|Q9H6M2	Missense_Mutation	SNP	ENST00000314622.4	37	c.395G>T	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605236	0.87157	.	.	ENSG00000178694	ENST00000314622	T	0.19105	2.17	5.81	5.81	0.92471	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.050884	0.85682	D	0.000000	T	0.59729	0.2215	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68606	-0.5364	10	0.87932	D	0	-17.9447	20.0782	0.97758	0.0:0.0:1.0:0.0	.	132	Q9H649	NSUN3_HUMAN	V	132	ENSP00000318986:G132V	ENSP00000318986:G132V	G	+	2	0	NSUN3	95285913	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.751000	0.74893	2.746000	0.94184	0.655000	0.94253	GGG		0.453	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072		6	133	6	133	---	---	---	---
EPHA6	285220	broad.mit.edu	37	3	96706580	96706580	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:96706580G>T	ENST00000389672.5	+	3	895	c.857G>T	c.(856-858)gGg>gTg	p.G286V	EPHA6_ENST00000542517.1_Missense_Mutation_p.G192V|EPHA6_ENST00000470610.2_Missense_Mutation_p.G286V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	192						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAAGACATTGGGGCGTGCATT	0.458																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(856-858)gGg>gTg		EPH receptor A6							232.0	241.0	238.0					3																	96706580		1955	4186	6141	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706580G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.857G>T	3.37:g.96706580G>T	ENSP00000374323:p.Gly286Val					EPHA6_ENST00000470610.2_Missense_Mutation_p.G286V|EPHA6_ENST00000542517.1_Missense_Mutation_p.G192V	p.G286V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			3	895	+			191					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.857G>T	CCDS46876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.976742|3.976742	0.74360|0.74360	.|.	.|.	ENSG00000080224|ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517|ENST00000506569	T;T;T|.	0.53640|.	0.61;0.61;0.61|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.64402|.	U|.	0.000002|.	D|D	0.87325|0.87325	0.6149|0.6149	H|H	0.94964|0.94964	3.605|3.605	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.90669|0.90669	0.4596|0.4596	10|5	0.87932|.	D|.	0|.	.|.	18.3424|18.3424	0.90309|0.90309	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	286;286|.	B3KS12;E7EU71|.	.;.|.	V|C	286;286;192|230	ENSP00000420598:G286V;ENSP00000374323:G286V;ENSP00000439758:G192V|.	ENSP00000374323:G286V|.	G|W	+|+	2|3	0|0	EPHA6|EPHA6	98189270|98189270	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.808000|0.808000	0.45660|0.45660	9.869000|9.869000	0.99810|0.99810	2.554000|2.554000	0.86153|0.86153	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.458	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		9	573	9	573	---	---	---	---
CRYBG3	131544	broad.mit.edu	37	3	97662113	97662113	+	Silent	SNP	C	C	A	rs201778793		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:97662113C>A	ENST00000182096.4	+	19	3088	c.3024C>A	c.(3022-3024)ccC>ccA	p.P1008P	CRYBG3_ENST00000389622.2_Silent_p.P215P|CRYBG3_ENST00000485253.1_3'UTR|MINA_ENST00000333396.7_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2956							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TAAATCAGCCCCTGGAGGGAG	0.363																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(3022-3024)ccC>ccA		beta-gamma crystallin domain containing 3							85.0	83.0	84.0					3																	97662113		1827	4082	5909	SO:0001819	synonymous_variant	131544							g.chr3:97662113C>A			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.3024C>A	3.37:g.97662113C>A						CRYBG3_ENST00000485253.1_3'UTR|MINA_ENST00000333396.7_3'UTR|CRYBG3_ENST00000389622.2_Silent_p.P215P	p.P1008P	NM_153605.3	NP_705833.3					19	3088	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	ENST00000182096.4	37	c.3024C>A																																																																																					0.363	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		5	103	5	103	---	---	---	---
OR5AC2	81050	broad.mit.edu	37	3	97806257	97806257	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:97806257C>A	ENST00000358642.2	+	1	241	c.241C>A	c.(241-243)Cct>Act	p.P81T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	81					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTCTATAACCCCTAGGATGCT	0.418																																						ENST00000358642.2																			0				endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						c.(241-243)Cct>Act		olfactory receptor, family 5, subfamily AC, member 2							218.0	213.0	215.0					3																	97806257		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806257C>A	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.241C>A	3.37:g.97806257C>A	ENSP00000351466:p.Pro81Thr						p.P81T	NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN			1	241	+			81						Missense_Mutation	SNP	ENST00000358642.2	37	c.241C>A	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942081	0.92526	.	.	ENSG00000196578	ENST00000358642	T	0.01854	4.6	5.29	5.29	0.74685	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36591	U	0.002513	T	0.21921	0.0528	H	0.97758	4.07	0.36947	D	0.892652	D	0.63880	0.993	D	0.65010	0.931	T	0.49214	-0.8963	10	0.87932	D	0	-32.4792	16.6077	0.84835	0.0:1.0:0.0:0.0	.	81	Q9NZP5	O5AC2_HUMAN	T	81	ENSP00000351466:P81T	ENSP00000351466:P81T	P	+	1	0	OR5AC2	99288947	1.000000	0.71417	0.133000	0.22050	0.540000	0.34992	4.455000	0.60075	2.522000	0.85027	0.590000	0.80494	CCT		0.418	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1			7	477	7	477	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108117984	108117984	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:108117984A>T	ENST00000273353.3	-	35	4983	c.4927T>A	c.(4927-4929)Tgt>Agt	p.C1643S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1643						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.C1643S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CGGTTGGCACAGCTAAGCTGG	0.488																																						ENST00000273353.3																			1	Substitution - Missense(1)	p.C1643S(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(4927-4929)Tgt>Agt		myosin, heavy chain 15							89.0	91.0	91.0					3																	108117984		2149	4294	6443	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108117984A>T	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4927T>A	3.37:g.108117984A>T	ENSP00000273353:p.Cys1643Ser						p.C1643S	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			35	4983	-			1643						Missense_Mutation	SNP	ENST00000273353.3	37	c.4927T>A	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	A	13.03	2.115214	0.37339	.	.	ENSG00000144821	ENST00000273353	D	0.81659	-1.52	5.91	-5.88	0.02290	Myosin tail (1);	.	.	.	.	T	0.60025	0.2237	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.48502	-0.9030	9	0.72032	D	0.01	.	2.3237	0.04217	0.2627:0.1179:0.4095:0.2099	.	1643	Q9Y2K3	MYH15_HUMAN	S	1643	ENSP00000273353:C1643S	ENSP00000273353:C1643S	C	-	1	0	MYH15	109600674	0.089000	0.21612	0.000000	0.03702	0.472000	0.32918	0.977000	0.29475	-0.857000	0.04115	0.528000	0.53228	TGT		0.488	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		66	96	66	96	---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113286504	113286504	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:113286504C>A	ENST00000264852.4	+	3	1188	c.462C>A	c.(460-462)ccC>ccA	p.P154P	SIDT1_ENST00000393830.3_Silent_p.P154P	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	154					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)	p.P154P(2)		breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCATGGCACCCCTGGGTGCTC	0.502																																						ENST00000264852.4																			2	Substitution - coding silent(2)	p.P154P(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(460-462)ccC>ccA		SID1 transmembrane family, member 1							163.0	154.0	157.0					3																	113286504		2203	4300	6503	SO:0001819	synonymous_variant	54847					integral to membrane		g.chr3:113286504C>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.462C>A	3.37:g.113286504C>A						SIDT1_ENST00000393830.3_Silent_p.P154P	p.P154P	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			3	1188	+			154					Q17RR4	Silent	SNP	ENST00000264852.4	37	c.462C>A	CCDS2974.1																																																																																				0.502	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		6	345	6	345	---	---	---	---
ZDHHC23	254887	broad.mit.edu	37	3	113672875	113672875	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:113672875G>T	ENST00000330212.3	+	3	789	c.490G>T	c.(490-492)Ggg>Tgg	p.G164W	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G158W	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	164					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GGTCCCCAAAGGGCGTGTGGG	0.517																																						ENST00000330212.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						c.(490-492)Ggg>Tgg		zinc finger, DHHC-type containing 23							132.0	129.0	130.0					3																	113672875		2203	4300	6503	SO:0001583	missense	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113672875G>T	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.490G>T	3.37:g.113672875G>T	ENSP00000330485:p.Gly164Trp					ZDHHC23_ENST00000498275.1_Missense_Mutation_p.G158W	p.G164W	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN			3	789	+			164					D3DN76	Missense_Mutation	SNP	ENST00000330212.3	37	c.490G>T	CCDS33827.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439934	0.83885	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	T;T	0.47528	0.84;0.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72214	-0.4358	10	0.87932	D	0	-3.4275	19.7359	0.96202	0.0:0.0:1.0:0.0	.	164	Q8IYP9	ZDH23_HUMAN	W	164;158	ENSP00000330485:G164W;ENSP00000417840:G158W	ENSP00000330485:G164W	G	+	1	0	ZDHHC23	115155565	1.000000	0.71417	0.879000	0.34478	0.852000	0.48524	9.209000	0.95087	2.672000	0.90937	0.462000	0.41574	GGG		0.517	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1	NM_173570		6	269	6	269	---	---	---	---
PARP15	165631	broad.mit.edu	37	3	122340367	122340367	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:122340367G>T	ENST00000464300.2	+	8	1206	c.1140G>T	c.(1138-1140)ggG>ggT	p.G380G	PARP15_ENST00000310366.4_Silent_p.G146G|PARP15_ENST00000493645.1_Silent_p.G146G|PARP15_ENST00000483793.1_Silent_p.G254G|PARP15_ENST00000465304.1_3'UTR	NM_001113523.1	NP_001106995.1	Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	380	Macro 2. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		ATGTTCCTGGGGGAAAAGATG	0.418																																						ENST00000483793.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24						c.(760-762)ggG>ggT		poly (ADP-ribose) polymerase family, member 15							124.0	113.0	117.0					3																	122340367		2203	4300	6503	SO:0001819	synonymous_variant	165631				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity	g.chr3:122340367G>T	AK097916	CCDS3016.1, CCDS46893.1	3q21	2010-02-16			ENSG00000173200	ENSG00000173200		"""Poly (ADP-ribose) polymerases"""	26876	protein-coding gene	gene with protein product		612066				15273990	Standard	NM_001113523		Approved	FLJ40597, pART7	uc003efm.2	Q460N3	OTTHUMG00000159523	ENST00000464300.2:c.1140G>T	3.37:g.122340367G>T						PARP15_ENST00000310366.4_Silent_p.G146G|PARP15_ENST00000464300.2_Silent_p.G380G|PARP15_ENST00000493645.1_Silent_p.G146G|PARP15_ENST00000465304.1_3'UTR	p.G254G			Q460N3	PAR15_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	6	802	+			428					J3KR47|Q8N1K3	Silent	SNP	ENST00000464300.2	37	c.762G>T	CCDS46893.1																																																																																				0.418	PARP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355964.2	NM_152615		5	177	5	177	---	---	---	---
COPG1	22820	broad.mit.edu	37	3	128971467	128971467	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:128971467G>T	ENST00000314797.6	+	4	277	c.173G>T	c.(172-174)gGg>gTg	p.G58V		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	58					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)										TTAACACAGGGGGAGCACCTG	0.532																																						ENST00000314797.6																			0											c.(172-174)gGg>gTg		coatomer protein complex, subunit gamma 1							90.0	87.0	88.0					3																	128971467		2203	4300	6503	SO:0001630	splice_region_variant	22820				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:128971467G>T	AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.172-1G>T	3.37:g.128971467G>T							p.G58V	NM_016128.3	NP_057212.1	Q9Y678	COPG_HUMAN			4	277	+			58					A8K6M8|B3KMF6|Q54AC4	Splice_Site	SNP	ENST00000314797.6	37	c.173G>T	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839827	0.91117	.	.	ENSG00000181789	ENST00000314797	T	0.59638	0.25	5.07	5.07	0.68467	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.81498	0.4835	M	0.92555	3.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86337	0.1702	10	0.87932	D	0	-18.4717	15.9544	0.79871	0.0:0.0:1.0:0.0	.	58	Q9Y678	COPG_HUMAN	V	58	ENSP00000325002:G58V	ENSP00000325002:G58V	G	+	2	0	COPG	130454157	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.727000	0.98787	2.372000	0.80975	0.491000	0.48974	GGG		0.532	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1	NM_016128	Missense_Mutation	6	209	6	209	---	---	---	---
DNAJC13	23317	broad.mit.edu	37	3	132211347	132211347	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:132211347C>A	ENST00000260818.6	+	33	3961	c.3713C>A	c.(3712-3714)cCc>cAc	p.P1238H		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1238					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAGTATTGCCCCATTCCTATA	0.408																																						ENST00000260818.6																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(3712-3714)cCc>cAc		DnaJ (Hsp40) homolog, subfamily C, member 13							205.0	221.0	216.0					3																	132211347		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132211347C>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.3713C>A	3.37:g.132211347C>A	ENSP00000260818:p.Pro1238His						p.P1238H	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN			33	3961	+			1238					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.3713C>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.980590	0.92982	.	.	ENSG00000138246	ENST00000260818	T	0.34667	1.35	6.03	6.03	0.97812	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68513	0.3009	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.71869	-0.4462	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1238	O75165	DJC13_HUMAN	H	1238	ENSP00000260818:P1238H	ENSP00000260818:P1238H	P	+	2	0	DNAJC13	133694037	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	CCC		0.408	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268		10	581	10	581	---	---	---	---
SRPRB	58477	broad.mit.edu	37	3	133525537	133525537	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:133525537T>G	ENST00000466490.2	+	3	524	c.239T>G	c.(238-240)cTc>cGc	p.L80R		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	80					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)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.L80R(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AAAACGTTGCTCTTTGTCAGG	0.403																																						ENST00000466490.2																			1	Substitution - Missense(1)	p.L80R(1)	prostate(1)	breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						c.(238-240)cTc>cGc		signal recognition particle receptor, B subunit							179.0	166.0	170.0					3																	133525537		2203	4300	6503	SO:0001583	missense	58477					endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	g.chr3:133525537T>G	AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.239T>G	3.37:g.133525537T>G	ENSP00000418401:p.Leu80Arg						p.L80R	NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN			3	524	+			80					Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	c.239T>G	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.560683	0.86335	.	.	ENSG00000144867	ENST00000466490;ENST00000484684	T;T	0.64085	1.28;-0.08	5.33	5.33	0.75918	.	0.000000	0.56097	D	0.000025	D	0.84502	0.5486	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89039	0.3447	10	0.87932	D	0	-9.9471	14.9554	0.71110	0.0:0.0:0.0:1.0	.	80	Q9Y5M8	SRPRB_HUMAN	R	80	ENSP00000418401:L80R;ENSP00000417096:L80R	ENSP00000418401:L80R	L	+	2	0	SRPRB	135008227	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	6.561000	0.73955	2.016000	0.59253	0.533000	0.62120	CTC		0.403	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2			21	165	21	165	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140122471	140122471	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:140122471G>T	ENST00000458420.3	+	3	423	c.233G>T	c.(232-234)gGg>gTg	p.G78V	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCTTCTGCAGGGGAAATCTGT	0.542										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	ENST00000458420.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						c.(232-234)gGg>gTg		calsyntenin 2							158.0	150.0	153.0					3																	140122471		2203	4300	6503	SO:0001630	splice_region_variant	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140122471G>T	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.233-1G>T	3.37:g.140122471G>T		HNSCC(16;0.037)					p.G78V	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN			3	423	+			78			Cadherin 1.		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Splice_Site	SNP	ENST00000458420.3	37	c.233G>T	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369013	0.82463	.	.	ENSG00000158258	ENST00000458420	T	0.47869	0.83	5.63	5.63	0.86233	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.76321	-0.3002	9	.	.	.	.	17.1916	0.86881	0.0:0.0:1.0:0.0	.	78	Q9H4D0	CSTN2_HUMAN	V	78	ENSP00000402460:G78V	.	G	+	2	0	CLSTN2	141605161	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	9.299000	0.96137	2.649000	0.89929	0.650000	0.86243	GGG		0.542	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	Missense_Mutation	9	328	9	328	---	---	---	---
RASA2	5922	broad.mit.edu	37	3	141272749	141272749	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:141272749C>A	ENST00000452898.1	+	6	613	c.578C>A	c.(577-579)cCt>cAt	p.P193H	RASA2_ENST00000286364.3_Missense_Mutation_p.P193H	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	193	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|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)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AGCTGTGACCCTTATGCAACA	0.318																																						ENST00000286364.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						c.(577-579)cCt>cAt		RAS p21 protein activator 2							122.0	121.0	121.0					3																	141272749		2203	4300	6503	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141272749C>A	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.578C>A	3.37:g.141272749C>A	ENSP00000391677:p.Pro193His					RASA2_ENST00000452898.1_Missense_Mutation_p.P193H	p.P193H			Q15283	RASA2_HUMAN			6	613	+			193			C2 2.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.578C>A		.	.	.	.	.	.	.	.	.	.	C	20.8	4.046677	0.75846	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.78003	-1.14;-1.14	5.54	4.66	0.58398	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.122833	0.56097	D	0.000035	D	0.92293	0.7555	H	0.97783	4.075	0.54753	D	0.999983	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.983;0.971;0.983	D	0.94293	0.7530	10	0.44086	T	0.13	.	16.4259	0.83814	0.0:0.8683:0.1317:0.0	.	193;193;193	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	H	193	ENSP00000286364:P193H;ENSP00000391677:P193H	ENSP00000286364:P193H	P	+	2	0	RASA2	142755439	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.382000	0.73167	1.329000	0.45376	0.557000	0.71058	CCT		0.318	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		6	288	6	288	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150877858	150877858	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:150877858C>A	ENST00000474524.1	+	7	1115	c.1077C>A	c.(1075-1077)ccC>ccA	p.P359P	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Silent_p.P359P|MED12L_ENST00000422248.2_Silent_p.P359P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	359						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCATGGTCCCCTGGTTTATG	0.522																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(1075-1077)ccC>ccA		mediator complex subunit 12-like							105.0	109.0	107.0					3																	150877858		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150877858C>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1077C>A	3.37:g.150877858C>A						MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Silent_p.P359P|MED12L_ENST00000309237.4_Silent_p.P359P	p.P359P	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		7	1115	+			359					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.1077C>A	CCDS33876.1																																																																																				0.522	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		6	336	6	336	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151166339	151166339	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:151166339C>A	ENST00000282466.3	-	4	1429	c.1430G>T	c.(1429-1431)aGg>aTg	p.R477M		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	477	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGTTATCCCTTGAAATCAT	0.473																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(1429-1431)aGg>aTg		immunoglobulin superfamily, member 10							253.0	232.0	239.0					3																	151166339		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166339C>A	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1430G>T	3.37:g.151166339C>A	ENSP00000282466:p.Arg477Met						p.R477M	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1429	-			477			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1430G>T	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	7.173	0.587947	0.13812	.	.	ENSG00000152580	ENST00000282466	T	0.70749	-0.51	5.08	3.23	0.37069	Immunoglobulin-like (1);	0.271361	0.25022	N	0.033749	T	0.52125	0.1715	L	0.45698	1.435	0.09310	N	1	P	0.39282	0.666	B	0.26517	0.07	T	0.46076	-0.9217	10	0.37606	T	0.19	.	4.6888	0.12771	0.159:0.6047:0.0:0.2362	.	477	Q6WRI0	IGS10_HUMAN	M	477	ENSP00000282466:R477M	ENSP00000282466:R477M	R	-	2	0	IGSF10	152649029	0.000000	0.05858	0.004000	0.12327	0.815000	0.46073	0.518000	0.22847	0.507000	0.28148	0.555000	0.69702	AGG		0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		8	329	8	329	---	---	---	---
SMC4	10051	broad.mit.edu	37	3	160143934	160143934	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:160143934C>A	ENST00000357388.3	+	17	3002	c.2551C>A	c.(2551-2553)Cct>Act	p.P851T	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.P851T|SMC4_ENST00000469762.1_Missense_Mutation_p.P826T|SMC4_ENST00000344722.5_Missense_Mutation_p.P851T|SMC4_ENST00000360111.2_Missense_Mutation_p.P851T	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	851					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGCTACAGCCCCTGACAAAAA	0.338																																						ENST00000357388.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2551-2553)Cct>Act		structural maintenance of chromosomes 4							122.0	137.0	132.0					3																	160143934		2203	4298	6501	SO:0001583	missense	10051				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity	g.chr3:160143934C>A	AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2551C>A	3.37:g.160143934C>A	ENSP00000349961:p.Pro851Thr					SMC4_ENST00000344722.5_Missense_Mutation_p.P851T|SMC4_ENST00000462787.1_Missense_Mutation_p.P851T|SMC4_ENST00000469762.1_Missense_Mutation_p.P826T|SMC4_ENST00000360111.2_Missense_Mutation_p.P851T|RP11-432B6.3_ENST00000483754.1_Intron	p.P851T	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		17	3002	+			851					A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	ENST00000357388.3	37	c.2551C>A	CCDS3189.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.908702	0.72868	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	5.7	5.7	0.88788	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.77498	0.4139	L	0.41492	1.28	0.80722	D	1	D;B;P;D	0.89917	1.0;0.025;0.946;0.966	D;B;P;P	0.76575	0.988;0.055;0.716;0.815	T	0.70443	-0.4870	10	0.14252	T	0.57	-11.0474	18.0159	0.89241	0.0:1.0:0.0:0.0	.	851;826;826;851	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	T	851;851;826;851;851;445	ENSP00000349961:P851T;ENSP00000353225:P851T;ENSP00000417964:P826T;ENSP00000420734:P851T;ENSP00000341382:P851T	ENSP00000341382:P851T	P	+	1	0	SMC4	161626628	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.275000	0.78548	2.686000	0.91538	0.555000	0.69702	CCT		0.338	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352862.1			8	430	8	430	---	---	---	---
PPM1L	151742	broad.mit.edu	37	3	160783260	160783260	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:160783260G>T	ENST00000498165.1	+	3	745	c.644G>T	c.(643-645)gGg>gTg	p.G215V	PPM1L_ENST00000464260.1_Missense_Mutation_p.G36V|PPM1L_ENST00000295839.9_Missense_Mutation_p.G88V|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	215	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GACTCGCGCGGGGTCCTGTGT	0.483																																					Pancreas(86;250 1994 13715 43211)	ENST00000498165.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(643-645)gGg>gTg		protein phosphatase, Mg2+/Mn2+ dependent, 1L							113.0	111.0	111.0					3																	160783260		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160783260G>T	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.644G>T	3.37:g.160783260G>T	ENSP00000417659:p.Gly215Val					PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.G36V|PPM1L_ENST00000295839.9_Missense_Mutation_p.G88V	p.G215V	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		3	745	+			215			PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.644G>T	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.436528	0.62955	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.15372	2.43;2.43;2.43	5.12	5.12	0.69794	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	L	0.31157	0.91	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.72075	0.943;0.976	T	0.02047	-1.1223	10	0.52906	T	0.07	.	17.7238	0.88359	0.0:0.0:1.0:0.0	.	88;215	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	V	215;36;88	ENSP00000417659:G215V;ENSP00000420746:G36V;ENSP00000295839:G88V	ENSP00000295839:G88V	G	+	2	0	PPM1L	162265954	1.000000	0.71417	0.861000	0.33841	0.322000	0.28314	9.235000	0.95353	2.681000	0.91329	0.561000	0.74099	GGG		0.483	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		6	161	6	161	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164905816	164905816	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:164905816G>T	ENST00000475390.1	-	2	3246	c.2803C>A	c.(2803-2805)Ctt>Att	p.L935I	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L935I			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	935					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAGAAGAGAAGGGTTTCTTTG	0.498										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2803-2805)Ctt>Att		SLIT and NTRK-like family, member 3							172.0	171.0	171.0					3																	164905816		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164905816G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2803C>A	3.37:g.164905816G>T	ENSP00000420091:p.Leu935Ile	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_Missense_Mutation_p.L935I	p.L935I			O94933	SLIK3_HUMAN			2	3246	-			935					Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.2803C>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	7.607	0.673931	0.14841	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.57595	0.39;0.39	5.65	5.65	0.86999	.	0.000000	0.31495	N	0.007550	T	0.57286	0.2043	N	0.14661	0.345	0.41337	D	0.987278	D	0.63880	0.993	D	0.67548	0.952	T	0.58662	-0.7597	10	0.35671	T	0.21	-13.7929	19.3274	0.94267	0.0:0.0:1.0:0.0	.	935	O94933	SLIK3_HUMAN	I	935	ENSP00000420091:L935I;ENSP00000241274:L935I	ENSP00000241274:L935I	L	-	1	0	SLITRK3	166388510	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.895000	0.48648	2.661000	0.90470	0.655000	0.94253	CTT		0.498	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		8	426	8	426	---	---	---	---
FNDC3B	64778	broad.mit.edu	37	3	172070714	172070714	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:172070714C>A	ENST00000336824.4	+	22	2735	c.2636C>A	c.(2635-2637)cCt>cAt	p.P879H	FNDC3B_ENST00000416957.1_Missense_Mutation_p.P879H|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P879H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	879	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GATGCCTACCCTGATTCACCT	0.547																																						ENST00000336824.4																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69						c.(2635-2637)cCt>cAt		fibronectin type III domain containing 3B							113.0	94.0	101.0					3																	172070714		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172070714C>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2636C>A	3.37:g.172070714C>A	ENSP00000338523:p.Pro879His					FNDC3B_ENST00000416957.1_Missense_Mutation_p.P879H|FNDC3B_ENST00000415807.2_Missense_Mutation_p.P879H	p.P879H	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	22	2735	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		879			Fibronectin type-III 7.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.2636C>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	8.683	0.905598	0.17760	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.25250	1.81;1.81;1.81	5.9	5.02	0.67125	Fibronectin, type III (3);	0.400317	0.30593	N	0.009285	T	0.11196	0.0273	N	0.04880	-0.145	0.35072	D	0.762614	B	0.02656	0.0	B	0.04013	0.001	T	0.19811	-1.0294	10	0.20519	T	0.43	-7.6366	7.4278	0.27109	0.1441:0.7136:0.0:0.1423	.	879	Q53EP0	FND3B_HUMAN	H	879	ENSP00000411242:P879H;ENSP00000338523:P879H;ENSP00000389094:P879H	ENSP00000338523:P879H	P	+	2	0	FNDC3B	173553408	0.004000	0.15560	0.107000	0.21349	0.533000	0.34776	1.242000	0.32755	1.471000	0.48121	0.563000	0.77884	CCT		0.547	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		5	141	5	141	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039469	184039469	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:184039469C>A	ENST00000346169.2	+	10	1368	c.1097C>A	c.(1096-1098)cCa>cAa	p.P366Q	EIF4G1_ENST00000342981.4_Missense_Mutation_p.P366Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P170Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P373Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P202Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P279Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P366Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P373Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P279Q|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P170Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P202Q	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	366					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCATGGTCCCATCTGAAGAT	0.552																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1096-1098)cCa>cAa		eukaryotic translation initiation factor 4 gamma, 1							119.0	124.0	122.0					3																	184039469		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039469C>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1097C>A	3.37:g.184039469C>A	ENSP00000316879:p.Pro366Gln					EIF4G1_ENST00000411531.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P202Q|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P366Q|EIF4G1_ENST00000435046.2_Missense_Mutation_p.P170Q|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P326Q|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P279Q|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P373Q|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P366Q|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P373Q|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P170Q|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P279Q|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P202Q	p.P366Q	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1511	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		366					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1097C>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555777	0.45487	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35789	3.94;3.92;3.87;2.81;2.79;3.93;2.98;3.74;3.93;3.85;3.93;3.94;3.93;3.92;2.39;3.75;3.71;1.29;3.73	5.5	3.73	0.42828	.	0.491906	0.23151	N	0.051350	T	0.26774	0.0655	L	0.29908	0.895	0.19945	N	0.999942	P;P;P;B	0.42039	0.769;0.61;0.769;0.077	B;B;B;B	0.42343	0.384;0.147;0.384;0.051	T	0.06807	-1.0806	10	0.23891	T	0.37	0.8658	9.6499	0.39890	0.0:0.839:0.0:0.161	.	373;366;366;373	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	Q	366;326;279;366;373;373;307;202;373;279;366;366;373;326;202;202;170;170;170	ENSP00000316879:P366Q;ENSP00000391935:P326Q;ENSP00000376320:P279Q;ENSP00000391412:P366Q;ENSP00000413159:P373Q;ENSP00000371767:P373Q;ENSP00000403269:P307Q;ENSP00000317600:P202Q;ENSP00000338020:P373Q;ENSP00000407682:P279Q;ENSP00000343450:P366Q;ENSP00000323737:P366Q;ENSP00000416255:P373Q;ENSP00000395974:P326Q;ENSP00000398145:P202Q;ENSP00000399858:P202Q;ENSP00000411826:P170Q;ENSP00000399969:P170Q;ENSP00000404754:P170Q	ENSP00000323737:P366Q	P	+	2	0	EIF4G1	185522163	0.844000	0.29557	0.281000	0.24762	0.986000	0.74619	2.472000	0.45136	0.894000	0.36317	0.655000	0.94253	CCA		0.552	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		7	280	7	280	---	---	---	---
TPRG1	285386	broad.mit.edu	37	3	188925227	188925227	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:188925227G>T	ENST00000345063.3	+	2	221	c.54G>T	c.(52-54)gaG>gaT	p.E18D	TPRG1_ENST00000433971.1_Missense_Mutation_p.E18D	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	18						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TGAAGCAAGAGGGAGATGACC	0.458																																						ENST00000345063.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16						c.(52-54)gaG>gaT		tumor protein p63 regulated 1							153.0	139.0	144.0					3																	188925227		2203	4300	6503	SO:0001583	missense	285386							g.chr3:188925227G>T	AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.54G>T	3.37:g.188925227G>T	ENSP00000341031:p.Glu18Asp					TPRG1_ENST00000433971.1_Missense_Mutation_p.E18D	p.E18D	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)	2	221	+	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	18						Missense_Mutation	SNP	ENST00000345063.3	37	c.54G>T	CCDS3292.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152481	0.38021	.	.	ENSG00000188001	ENST00000433971;ENST00000412373;ENST00000345063;ENST00000456832	.	.	.	5.83	-1.05	0.10036	.	0.368202	0.31438	N	0.007641	T	0.19366	0.0465	N	0.14661	0.345	0.35216	D	0.77558	B	0.11235	0.004	B	0.08055	0.003	T	0.06267	-1.0836	9	0.15952	T	0.53	-20.226	0.8846	0.01241	0.3462:0.1265:0.3471:0.1802	.	18	Q6ZUI0	TPRG1_HUMAN	D	18	.	ENSP00000341031:E18D	E	+	3	2	TPRG1	190407921	0.998000	0.40836	0.996000	0.52242	0.891000	0.51852	0.081000	0.14823	-0.096000	0.12329	-0.126000	0.14955	GAG		0.458	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343931.1	NM_198485		5	182	5	182	---	---	---	---
LSG1	55341	broad.mit.edu	37	3	194379704	194379704	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:194379704G>T	ENST00000265245.5	-	7	1055	c.741C>A	c.(739-741)ccC>ccA	p.P247P		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	247	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CACCATTCAGGGGAATGGCTC	0.453																																						ENST00000265245.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16						c.(739-741)ccC>ccA		large 60S subunit nuclear export GTPase 1							125.0	135.0	132.0					3																	194379704		2203	4300	6503	SO:0001819	synonymous_variant	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194379704G>T		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.741C>A	3.37:g.194379704G>T							p.P247P	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	7	1055	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		247					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Silent	SNP	ENST00000265245.5	37	c.741C>A	CCDS33922.1																																																																																				0.453	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		6	343	6	343	---	---	---	---
UBXN7	26043	broad.mit.edu	37	3	196094919	196094919	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:196094919G>T	ENST00000296328.4	-	8	888	c.814C>A	c.(814-816)Ccc>Acc	p.P272T	UBXN7_ENST00000428095.1_Missense_Mutation_p.P110T|UBXN7_ENST00000535858.1_Missense_Mutation_p.P124T	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	272						Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|nucleus (GO:0005634)	transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CATTTTTTGGGGGGACTGCTA	0.403																																						ENST00000296328.4																			0				NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						c.(814-816)Ccc>Acc		UBX domain protein 7							149.0	136.0	140.0					3																	196094919		1847	4089	5936	SO:0001583	missense	26043						protein binding	g.chr3:196094919G>T	AB018337	CCDS43191.1	3q29	2012-07-06	2008-07-25	2008-07-25	ENSG00000163960	ENSG00000163960		"""UBX domain containing"""	29119	protein-coding gene	gene with protein product			"""UBX domain containing 7"""	UBXD7		9872452, 22537386	Standard	NM_015562		Approved	KIAA0794	uc003fwm.4	O94888	OTTHUMG00000155639	ENST00000296328.4:c.814C>A	3.37:g.196094919G>T	ENSP00000296328:p.Pro272Thr					UBXN7_ENST00000428095.1_Missense_Mutation_p.P110T|UBXN7_ENST00000535858.1_Missense_Mutation_p.P124T	p.P272T	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN			8	888	-			272					D3DXB3|Q6ZP77|Q86X20|Q8N327	Missense_Mutation	SNP	ENST00000296328.4	37	c.814C>A	CCDS43191.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705197	0.89018	.	.	ENSG00000163960	ENST00000296328;ENST00000428095;ENST00000535858	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.32530	0.975	0.80722	D	1	D	0.64830	0.994	P	0.59115	0.852	T	0.52837	-0.8522	9	0.13853	T	0.58	-6.9015	19.1204	0.93360	0.0:0.0:1.0:0.0	.	272	O94888	UBXN7_HUMAN	T	272;110;124	.	ENSP00000296328:P272T	P	-	1	0	UBXN7	197579316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.426000	0.90273	2.734000	0.93682	0.655000	0.94253	CCC		0.403	UBXN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340938.2	XM_087353		6	278	6	278	---	---	---	---
ADD1	118	broad.mit.edu	37	4	2929972	2929972	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:2929972C>A	ENST00000398129.1	+	14	1956	c.1936C>A	c.(1936-1938)Cct>Act	p.P646T	ADD1_ENST00000446856.1_Missense_Mutation_p.P646T|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000264758.7_Missense_Mutation_p.P677T|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000398125.1_3'UTR			P35611	ADDA_HUMAN	adducin 1 (alpha)	646					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGATCTGTCCCCTGATGAACC	0.577																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	ENST00000264758.7																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22						c.(2029-2031)Cct>Act		adducin 1 (alpha)							184.0	208.0	200.0					4																	2929972		2203	4300	6503	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2929972C>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1936C>A	4.37:g.2929972C>A	ENSP00000381197:p.Pro646Thr					ADD1_ENST00000398129.1_Missense_Mutation_p.P646T|ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.P646T	p.P677T	NM_014189.3	NP_054908.2	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	15	2217	+			646					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.2029C>A	CCDS43205.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.97|15.97	2.989167|2.989167	0.53934|0.53934	.|.	.|.	ENSG00000087274|ENSG00000087274	ENST00000541843|ENST00000264758;ENST00000446856;ENST00000398129	T|T;T;T	0.56103|0.07114	0.48|3.22;3.33;3.33	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.108134|0.108134	0.64402|0.64402	D|D	0.000004|0.000004	T|T	0.11707|0.11707	0.0285|0.0285	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.99999|0.99999	.|B;P	.|0.45531	.|0.437;0.86	.|B;P	.|0.47075	.|0.115;0.536	T|T	0.12553|0.12553	-1.0543|-1.0543	8|10	0.87932|0.07990	D|T	0|0.79	-9.6365|-9.6365	18.0244|18.0244	0.89264|0.89264	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|646;677	.|P35611;P35611-3	.|ADDA_HUMAN;.	H|T	102|677;646;646	ENSP00000441388:P102H|ENSP00000264758:P677T;ENSP00000399828:P646T;ENSP00000381197:P646T	ENSP00000441388:P102H|ENSP00000264758:P677T	P|P	+|+	2|1	0|0	ADD1|ADD1	2899770|2899770	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.955000|0.955000	0.61496|0.61496	5.244000|5.244000	0.65400|0.65400	2.315000|2.315000	0.78130|0.78130	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.577	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		8	466	8	466	---	---	---	---
AFAP1	60312	broad.mit.edu	37	4	7787997	7787997	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:7787997C>A	ENST00000360265.4	-	11	1688	c.1454G>T	c.(1453-1455)gGg>gTg	p.G485V	AFAP1_ENST00000358461.2_Missense_Mutation_p.G485V|AFAP1_ENST00000420658.1_Missense_Mutation_p.G485V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Missense_Mutation_p.G485V			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	485						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GGAGGTGCCCCCTAGATATGG	0.488																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1453-1455)gGg>gTg		actin filament associated protein 1							124.0	123.0	123.0					4																	7787997		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7787997C>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1454G>T	4.37:g.7787997C>A	ENSP00000353402:p.Gly485Val					AFAP1_ENST00000382543.3_Missense_Mutation_p.G485V|AFAP1_ENST00000358461.2_Missense_Mutation_p.G485V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000360265.4_Missense_Mutation_p.G485V	p.G485V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			12	1726	-			485					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1454G>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601633	0.66445	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.16897	2.31;2.47;2.31;2.47	5.27	5.27	0.74061	.	0.106621	0.64402	D	0.000005	T	0.33933	0.0880	L	0.57536	1.79	0.80722	D	1	D;D	0.71674	0.993;0.998	P;D	0.68621	0.839;0.959	T	0.01508	-1.1337	10	0.28530	T	0.3	-50.2484	12.2818	0.54767	0.0:0.9226:0.0:0.0774	.	485;485	E9PDT7;Q8N556	.;AFAP1_HUMAN	V	485	ENSP00000353402:G485V;ENSP00000410689:G485V;ENSP00000351245:G485V;ENSP00000371983:G485V	ENSP00000351245:G485V	G	-	2	0	AFAP1	7838897	1.000000	0.71417	0.099000	0.21106	0.589000	0.36550	5.077000	0.64419	2.462000	0.83206	0.650000	0.86243	GGG		0.488	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		6	232	6	232	---	---	---	---
LAP3	51056	broad.mit.edu	37	4	17590565	17590565	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:17590565C>A	ENST00000226299.4	+	7	1102	c.828C>A	c.(826-828)ccC>ccA	p.P276P	LAP3_ENST00000606142.1_Silent_p.P245P|LAP3_ENST00000503467.1_3'UTR|AC006160.5_ENST00000511010.1_RNA	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	276					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						ACGAACCACCCCTGGTGTTTG	0.443																																						ENST00000226299.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						c.(826-828)ccC>ccA		leucine aminopeptidase 3							104.0	102.0	103.0					4																	17590565		2203	4300	6503	SO:0001819	synonymous_variant	51056				proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding	g.chr4:17590565C>A	AF061738	CCDS3422.1	4p15.33	2012-07-25	2003-09-12		ENSG00000002549	ENSG00000002549	3.4.11.1		18449	protein-coding gene	gene with protein product		170250	"""peptidase S"""	PEPS		6350155, 689684	Standard	NM_015907		Approved	LAPEP, LAP	uc003gph.1	P28838	OTTHUMG00000048214	ENST00000226299.4:c.828C>A	4.37:g.17590565C>A						AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000606142.1_Silent_p.P245P|LAP3_ENST00000503467.1_3'UTR	p.P276P	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN			7	1102	+			276					B3KMQ3|Q6IAM6|Q6P0L6|Q9UQE3	Silent	SNP	ENST00000226299.4	37	c.828C>A	CCDS3422.1																																																																																				0.443	LAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250365.1			8	254	8	254	---	---	---	---
NCAPG	64151	broad.mit.edu	37	4	17839311	17839311	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:17839311C>A	ENST00000251496.2	+	16	2529	c.2353C>A	c.(2353-2355)Cct>Act	p.P785T		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	785					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GGCCAATGCCCCTGCATCTTC	0.398																																						ENST00000251496.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2353-2355)Cct>Act		non-SMC condensin I complex, subunit G							168.0	167.0	167.0					4																	17839311		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17839311C>A	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2353C>A	4.37:g.17839311C>A	ENSP00000251496:p.Pro785Thr						p.P785T	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	16	2529	+			785					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.2353C>A	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.242384	0.79912	.	.	ENSG00000109805	ENST00000251496	T	0.36520	1.25	5.25	4.41	0.53225	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61800	0.2376	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67910	-0.5548	10	0.72032	D	0.01	-16.7325	14.2392	0.65945	0.0:0.9274:0.0:0.0726	.	785	Q9BPX3	CND3_HUMAN	T	785	ENSP00000251496:P785T	ENSP00000251496:P785T	P	+	1	0	NCAPG	17448409	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.937000	0.75898	1.338000	0.45544	0.591000	0.81541	CCT		0.398	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346		10	464	10	464	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22390780	22390780	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:22390780G>T	ENST00000334304.5	-	18	2923	c.2654C>A	c.(2653-2655)cCc>cAc	p.P885H	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	885					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AACAATGATGGGGATACCACC	0.413																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2653-2655)cCc>cAc		G protein-coupled receptor 125							185.0	189.0	188.0					4																	22390780		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390780G>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2654C>A	4.37:g.22390780G>T	ENSP00000334952:p.Pro885His					GPR125_ENST00000282943.5_5'UTR	p.P885H	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN			18	2923	-		Breast(46;0.198)	885					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2654C>A	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508435	0.64410	.	.	ENSG00000152990	ENST00000334304	D	0.84589	-1.87	5.85	5.85	0.93711	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	M	0.87827	2.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94059	0.7325	10	0.87932	D	0	-29.5489	20.1496	0.98084	0.0:0.0:1.0:0.0	.	742;885	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	H	885	ENSP00000334952:P885H	ENSP00000334952:P885H	P	-	2	0	GPR125	21999878	1.000000	0.71417	0.712000	0.30502	0.003000	0.03518	9.471000	0.97696	2.755000	0.94549	0.655000	0.94253	CCC		0.413	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			6	355	6	355	---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26432054	26432054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:26432054G>T	ENST00000361572.6	+	10	1291	c.1097G>T	c.(1096-1098)gGg>gTg	p.G366V	RBPJ_ENST00000342295.1_Missense_Mutation_p.G366V|RBPJ_ENST00000342320.4_Missense_Mutation_p.G352V|RBPJ_ENST00000348160.4_Missense_Mutation_p.G353V|RBPJ_ENST00000355476.3_Missense_Mutation_p.G352V|RBPJ_ENST00000507561.1_Missense_Mutation_p.G331V|RBPJ_ENST00000345843.3_Missense_Mutation_p.G351V|RBPJ_ENST00000504907.1_Intron			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	366	IPT/TIG.				angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AATGGCGGTGGGGACGTAGCA	0.363																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(1054-1056)gGg>gTg		recombination signal binding protein for immunoglobulin kappa J region							140.0	133.0	136.0					4																	26432054		2203	4300	6503	SO:0001583	missense	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26432054G>T	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1097G>T	4.37:g.26432054G>T	ENSP00000354528:p.Gly366Val					RBPJ_ENST00000345843.3_Missense_Mutation_p.G351V|RBPJ_ENST00000342295.1_Missense_Mutation_p.G366V|RBPJ_ENST00000348160.4_Missense_Mutation_p.G353V|RBPJ_ENST00000504907.1_Intron|RBPJ_ENST00000361572.6_Missense_Mutation_p.G366V|RBPJ_ENST00000355476.3_Missense_Mutation_p.G352V|RBPJ_ENST00000507561.1_Missense_Mutation_p.G331V	p.G352V			Q06330	SUH_HUMAN			10	1231	+		Breast(46;0.0503)	366					B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.1055G>T	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231597	0.79688	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000342320;ENST00000504423	D;D;D;D;D;D;D;T	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;2.12	5.62	5.62	0.85841	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91355	0.7273	M	0.89478	3.035	0.80722	D	1	D;D;D;D	0.58620	0.983;0.978;0.978;0.983	P;P;P;P	0.50934	0.654;0.522;0.522;0.654	D	0.92597	0.6088	10	0.66056	D	0.02	-10.7423	19.653	0.95825	0.0:0.0:1.0:0.0	.	353;352;351;366	B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;SUH_HUMAN	V	351;366;366;353;352;331;352;52	ENSP00000305815:G351V;ENSP00000345206:G366V;ENSP00000354528:G366V;ENSP00000339699:G353V;ENSP00000347659:G352V;ENSP00000423907:G331V;ENSP00000340124:G352V;ENSP00000421804:G52V	ENSP00000345206:G366V	G	+	2	0	RBPJ	26041152	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.555000	0.82223	2.658000	0.90341	0.655000	0.94253	GGG		0.363	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		5	162	5	162	---	---	---	---
PGM2	55276	broad.mit.edu	37	4	37839188	37839188	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:37839188G>T	ENST00000381967.4	+	4	494	c.394G>T	c.(394-396)Ggg>Tgg	p.G132W	PGM2_ENST00000537241.1_Intron|PGM2_ENST00000544359.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	132					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TATCAGTCAGGGGATTCCTGT	0.463																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(394-396)Ggg>Tgg		phosphoglucomutase 2							219.0	200.0	206.0					4																	37839188		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37839188G>T	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.394G>T	4.37:g.37839188G>T	ENSP00000371393:p.Gly132Trp					PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_Intron	p.G132W	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			4	494	+			132					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.394G>T	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	g	24.6	4.548764	0.86127	.	.	ENSG00000169299	ENST00000381967	T	0.78924	-1.22	5.6	5.6	0.85130	Alpha-D-phosphohexomutase, alpha/beta/alpha domain I (1);Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	H	0.99197	4.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96187	0.9135	10	0.87932	D	0	-20.6683	19.6419	0.95762	0.0:0.0:1.0:0.0	.	132	Q96G03	PGM2_HUMAN	W	132	ENSP00000371393:G132W	ENSP00000371393:G132W	G	+	1	0	PGM2	37515583	1.000000	0.71417	0.996000	0.52242	0.765000	0.43378	9.773000	0.98989	2.652000	0.90054	0.645000	0.84053	GGG		0.463	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		6	351	6	351	---	---	---	---
KLHL5	51088	broad.mit.edu	37	4	39109314	39109314	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:39109314C>A	ENST00000504108.1	+	8	2072	c.1789C>A	c.(1789-1791)Cct>Act	p.P597T	KLHL5_ENST00000261426.5_Missense_Mutation_p.P536T|KLHL5_ENST00000359687.2_Missense_Mutation_p.P597T|KLHL5_ENST00000261425.3_Missense_Mutation_p.P551T|KLHL5_ENST00000381930.3_Missense_Mutation_p.P597T|KLHL5_ENST00000508137.2_Missense_Mutation_p.P410T	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	597						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TATGTCTACCCCTAGGAGTAC	0.418																																						ENST00000261425.3																			0				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1651-1653)Cct>Act		kelch-like family member 5							98.0	88.0	92.0					4																	39109314		2203	4300	6503	SO:0001583	missense	51088					cytoplasm|cytoskeleton	actin binding	g.chr4:39109314C>A	AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"""Kelch-like"", ""BTB/POZ domain containing"""	6356	protein-coding gene	gene with protein product		608064	"""kelch (Drosophila)-like 5"", ""kelch-like 5 (Drosophila)"""			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1789C>A	4.37:g.39109314C>A	ENSP00000423897:p.Pro597Thr					KLHL5_ENST00000261426.5_Missense_Mutation_p.P536T|KLHL5_ENST00000359687.2_Missense_Mutation_p.P597T|KLHL5_ENST00000508137.2_Missense_Mutation_p.P410T|KLHL5_ENST00000504108.1_Missense_Mutation_p.P597T|KLHL5_ENST00000381930.3_Missense_Mutation_p.P597T	p.P551T	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN			9	1803	+			597					A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Missense_Mutation	SNP	ENST00000504108.1	37	c.1651C>A	CCDS33974.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.847486|4.847486	0.91277|0.91277	.|.	.|.	ENSG00000109790|ENSG00000109790	ENST00000515612|ENST00000544221;ENST00000261425;ENST00000508137;ENST00000504108;ENST00000359687;ENST00000381930;ENST00000261426;ENST00000546147	.|T;T;T;T;T;T	.|0.80480	.|-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Galactose oxidase, beta-propeller (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.90882|0.90882	0.7135|0.7135	M|M	0.86864|0.86864	2.845|2.845	0.80722|0.80722	D|D	1|1	.|P;D;P	.|0.59357	.|0.758;0.985;0.935	.|P;D;P	.|0.66497	.|0.572;0.944;0.811	D|D	0.90189|0.90189	0.4248|0.4248	6|10	.|0.44086	.|T	.|0.13	.|.	20.0114|20.0114	0.97452|0.97452	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|536;597;597	.|F8WAE7;Q96PQ7;Q96PQ7-2	.|.;KLHL5_HUMAN;.	H|T	108|631;551;410;597;597;597;536;191	.|ENSP00000261425:P551T;ENSP00000423080:P410T;ENSP00000423897:P597T;ENSP00000352716:P597T;ENSP00000371355:P597T;ENSP00000261426:P536T	.|ENSP00000261425:P551T	P|P	+|+	2|1	0|0	KLHL5|KLHL5	38785709|38785709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	7.770000|7.770000	0.85390|0.85390	2.795000|2.795000	0.96236|0.96236	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.418	KLHL5-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360604.1			5	131	5	131	---	---	---	---
KCTD8	386617	broad.mit.edu	37	4	44177054	44177054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:44177054G>T	ENST00000360029.3	-	2	1458	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	392					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTTTTTAGAGGGGCGATCCAA	0.507										HNSCC(17;0.042)																												ENST00000360029.3																			0				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(1174-1176)cCc>cAc		potassium channel tetramerization domain containing 8							168.0	168.0	168.0					4																	44177054		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177054G>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1175C>A	4.37:g.44177054G>T	ENSP00000353129:p.Pro392His	HNSCC(17;0.042)					p.P392H	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			2	1458	-			392					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1175C>A	CCDS3467.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.66|13.66	2.303479|2.303479	0.40795|0.40795	.|.	.|.	ENSG00000183783|ENSG00000183783	ENST00000360029|ENST00000515268	T|T	0.47177|0.58506	0.85|0.33	4.56|4.56	4.56|4.56	0.56223|0.56223	.|.	0.134947|0.134947	0.33834|0.33834	N|N	0.004520|0.004520	T|T	0.61899|0.61899	0.2384|0.2384	L|L	0.36672|0.36672	1.1|1.1	0.45883|0.45883	D|D	0.998736|0.998736	B|.	0.30741|.	0.293|.	B|.	0.24394|.	0.053|.	T|T	0.66448|0.66448	-0.5921|-0.5921	10|8	0.87932|0.87932	D|D	0|0	.|.	16.846|16.846	0.85981|0.85981	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	392|.	Q6ZWB6|.	KCTD8_HUMAN|.	H|T	392|128	ENSP00000353129:P392H|ENSP00000424862:P128T	ENSP00000353129:P392H|ENSP00000424862:P128T	P|P	-|-	2|1	0|0	KCTD8|KCTD8	43871811|43871811	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.176000|0.176000	0.22953|0.22953	9.089000|9.089000	0.94137|0.94137	2.516000|2.516000	0.84829|0.84829	0.650000|0.650000	0.86243|0.86243	CCC|CCT		0.507	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			7	424	7	424	---	---	---	---
TECRL	253017	broad.mit.edu	37	4	65147241	65147241	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:65147241G>T	ENST00000381210.3	-	10	979	c.869C>A	c.(868-870)cCc>cAc	p.P290H	TECRL_ENST00000507440.1_Missense_Mutation_p.P290H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	290					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CCATGTGAAGGGGTTATAATT	0.328																																						ENST00000381210.3																			0				endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(868-870)cCc>cAc		trans-2,3-enoyl-CoA reductase-like							104.0	101.0	102.0					4																	65147241		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65147241G>T	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.869C>A	4.37:g.65147241G>T	ENSP00000370607:p.Pro290His					TECRL_ENST00000507440.1_Missense_Mutation_p.P290H	p.P290H	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			10	979	-			290						Missense_Mutation	SNP	ENST00000381210.3	37	c.869C>A	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003498	0.74932	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000511997	T;T	0.51071	0.72;0.72	5.56	5.56	0.83823	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	M	0.88979	2.995	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.78602	-0.2140	10	0.87932	D	0	-12.6891	15.0932	0.72211	0.0:0.0:1.0:0.0	.	290	Q5HYJ1	TECRL_HUMAN	H	290;290;5	ENSP00000426043:P290H;ENSP00000370607:P290H	ENSP00000370607:P290H	P	-	2	0	TECRL	64829836	1.000000	0.71417	0.988000	0.46212	0.852000	0.48524	6.870000	0.75526	2.618000	0.88619	0.650000	0.86243	CCC		0.328	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		5	161	5	161	---	---	---	---
UGT2A3	79799	broad.mit.edu	37	4	69798449	69798449	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:69798449C>A	ENST00000251566.4	-	3	923	c.893G>T	c.(892-894)gGg>gTg	p.G298V	UGT2A3_ENST00000420231.2_Missense_Mutation_p.G9V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	298					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACCATCTTCCCCTGAACTCTG	0.358																																						ENST00000251566.4																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(892-894)gGg>gTg		UDP glucuronosyltransferase 2 family, polypeptide A3							122.0	125.0	124.0					4																	69798449		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69798449C>A		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.893G>T	4.37:g.69798449C>A	ENSP00000251566:p.Gly298Val					UGT2A3_ENST00000420231.2_Missense_Mutation_p.G9V	p.G298V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN			3	923	-			298					Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.893G>T	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.270283	0.23221	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.77620	-1.11;-1.11	2.08	2.08	0.27032	.	0.000000	0.85682	D	0.000000	D	0.91005	0.7171	H	0.97874	4.095	0.58432	D	0.999991	D	0.89917	1.0	D	0.83275	0.996	D	0.91618	0.5308	10	0.87932	D	0	.	9.774	0.40607	0.0:1.0:0.0:0.0	.	298	Q6UWM9	UD2A3_HUMAN	V	298;9	ENSP00000251566:G298V;ENSP00000440115:G9V	ENSP00000251566:G298V	G	-	2	0	UGT2A3	69833038	0.998000	0.40836	0.005000	0.12908	0.093000	0.18481	4.678000	0.61641	1.147000	0.42369	0.561000	0.74099	GGG		0.358	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		8	373	8	373	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73186567	73186567	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:73186567C>A	ENST00000286657.4	-	7	1002	c.966G>T	c.(964-966)agG>agT	p.R322S	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	322	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGGGTTTCCCCTTTCTATGA	0.428																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(964-966)agG>agT		ADAM metallopeptidase with thrombospondin type 1 motif, 3							127.0	121.0	123.0					4																	73186567		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73186567C>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.966G>T	4.37:g.73186567C>A	ENSP00000286657:p.Arg322Ser						p.R322S	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		7	1002	-			322			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.966G>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978535	0.34942	.	.	ENSG00000156140	ENST00000286657	T	0.61627	0.09	6.07	3.05	0.35203	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.060607	0.64402	D	0.000009	T	0.43743	0.1261	N	0.03903	-0.33	0.47547	D	0.999451	D	0.56746	0.977	P	0.61940	0.896	T	0.28106	-1.0054	10	0.13108	T	0.6	.	8.011	0.30353	0.0:0.5989:0.0:0.4011	.	322	O15072	ATS3_HUMAN	S	322	ENSP00000286657:R322S	ENSP00000286657:R322S	R	-	3	2	ADAMTS3	73405431	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.635000	0.24629	0.897000	0.36392	0.655000	0.94253	AGG		0.428	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			5	152	5	152	---	---	---	---
CCDC158	339965	broad.mit.edu	37	4	77276527	77276527	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:77276527G>T	ENST00000388914.3	-	14	2388	c.2236C>A	c.(2236-2238)Ctt>Att	p.L746I	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	746										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTGCTCTGAAGGGCATCTATC	0.438																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(2236-2238)Ctt>Att		coiled-coil domain containing 158							256.0	236.0	243.0					4																	77276527		1923	4136	6059	SO:0001583	missense	339965							g.chr4:77276527G>T	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2236C>A	4.37:g.77276527G>T	ENSP00000373566:p.Leu746Ile						p.L746I	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			14	2388	-			746					Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.2236C>A	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812711	0.70912	.	.	ENSG00000163749	ENST00000388914	D	0.81659	-1.52	5.24	5.24	0.73138	.	0.000000	0.51477	D	0.000097	T	0.80407	0.4617	N	0.19112	0.55	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.79732	-0.1680	10	0.46703	T	0.11	.	9.6947	0.40150	0.0917:0.0:0.9083:0.0	.	746	Q5M9N0	CD158_HUMAN	I	746	ENSP00000373566:L746I	ENSP00000373566:L746I	L	-	1	0	CCDC158	77495551	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.630000	0.46494	2.719000	0.93026	0.655000	0.94253	CTT		0.438	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		7	468	7	468	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81123291	81123291	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:81123291C>A	ENST00000504452.1	+	8	1514	c.675C>A	c.(673-675)ccC>ccA	p.P225P	PRDM8_ENST00000415738.2_Silent_p.P225P|PRDM8_ENST00000339711.4_Silent_p.P225P			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	225	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCCGGGTCCCAAGTTTTGCA	0.697											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(673-675)ccC>ccA		PR domain containing 8							16.0	22.0	20.0					4																	81123291		1988	4148	6136	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123291C>A	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.675C>A	4.37:g.81123291C>A			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Silent_p.P225P|PRDM8_ENST00000415738.2_Silent_p.P225P	p.P225P	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1906	+			225			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.675C>A	CCDS43243.1																																																																																				0.697	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			3	28	3	28	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85664946	85664946	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:85664946G>T	ENST00000295888.4	-	37	6387	c.5980C>A	c.(5980-5982)Cct>Act	p.P1994T	WDFY3_ENST00000322366.6_Missense_Mutation_p.P1994T	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1994					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GACCTTTCAGGGGAAGCCTAA	0.318																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(5980-5982)Cct>Act		WD repeat and FYVE domain containing 3							71.0	70.0	71.0					4																	85664946		2203	4299	6502	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85664946G>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5980C>A	4.37:g.85664946G>T	ENSP00000295888:p.Pro1994Thr					WDFY3_ENST00000295888.4_Missense_Mutation_p.P1994T	p.P1994T			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	37	6387	-		Hepatocellular(203;0.114)	1994					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.5980C>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558804	0.86231	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.70399	-0.48;-0.47	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.84083	0.5394	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85215	0.1023	10	0.72032	D	0.01	.	19.4376	0.94804	0.0:0.0:1.0:0.0	.	1994	Q8IZQ1	WDFY3_HUMAN	T	1994	ENSP00000318466:P1994T;ENSP00000295888:P1994T	ENSP00000295888:P1994T	P	-	1	0	WDFY3	85883970	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.094000	0.94168	2.660000	0.90430	0.467000	0.42956	CCT		0.318	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		6	118	6	118	---	---	---	---
HSD17B11	51170	broad.mit.edu	37	4	88303482	88303482	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:88303482C>A	ENST00000358290.4	-	2	558	c.243G>T	c.(241-243)aaG>aaT	p.K81N	HSD17B11_ENST00000507286.1_Missense_Mutation_p.K81N	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	81					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CACCCAGTCCCTTGCATTTGG	0.398																																						ENST00000358290.4																			0				cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11						c.(241-243)aaG>aaT		hydroxysteroid (17-beta) dehydrogenase 11							174.0	178.0	176.0					4																	88303482		2203	4300	6503	SO:0001583	missense	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88303482C>A	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.243G>T	4.37:g.88303482C>A	ENSP00000351035:p.Lys81Asn					HSD17B11_ENST00000507286.1_Missense_Mutation_p.K81N	p.K81N	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	2	558	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	81					Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	c.243G>T	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	C	9.803	1.181002	0.21787	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;D	0.89810	-2.57;-2.32	5.47	3.48	0.39840	NAD(P)-binding domain (1);	0.522655	0.21003	N	0.081832	T	0.80491	0.4633	L	0.28274	0.84	0.09310	N	1	B	0.30526	0.283	B	0.28849	0.095	T	0.71244	-0.4650	10	0.44086	T	0.13	.	9.2248	0.37400	0.0:0.73:0.0:0.27	.	81	Q8NBQ5	DHB11_HUMAN	N	81	ENSP00000351035:K81N;ENSP00000423775:K81N	ENSP00000351035:K81N	K	-	3	2	HSD17B11	88522506	0.005000	0.15991	0.838000	0.33150	0.212000	0.24457	1.417000	0.34770	1.303000	0.44873	0.591000	0.81541	AAG		0.398	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		6	385	6	385	---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104510993	104510993	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:104510993G>T	ENST00000304883.2	-	5	1384	c.1244C>A	c.(1243-1245)cCc>cAc	p.P415H	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	415					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGCATCGTTGGGGTCAAACAC	0.512																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(1243-1245)cCc>cAc		tachykinin receptor 3							265.0	242.0	250.0					4																	104510993		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104510993G>T	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1244C>A	4.37:g.104510993G>T	ENSP00000303325:p.Pro415His					RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	p.P415H	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	5	1384	-		Hepatocellular(203;0.217)	415					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.1244C>A	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558989	0.27827	.	.	ENSG00000169836	ENST00000304883	T	0.64085	-0.08	5.54	5.54	0.83059	.	0.512209	0.20185	N	0.097431	T	0.64159	0.2573	M	0.66939	2.045	0.37567	D	0.919299	B	0.09022	0.002	B	0.10450	0.005	T	0.63391	-0.6648	10	0.44086	T	0.13	.	18.4904	0.90844	0.0:0.0:1.0:0.0	.	415	P29371	NK3R_HUMAN	H	415	ENSP00000303325:P415H	ENSP00000303325:P415H	P	-	2	0	TACR3	104730442	1.000000	0.71417	0.065000	0.19835	0.001000	0.01503	4.340000	0.59328	2.605000	0.88082	0.591000	0.81541	CCC		0.512	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		8	517	8	517	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114176921	114176921	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:114176921C>A	ENST00000357077.4	+	11	1074	c.1021C>A	c.(1021-1023)Cag>Aag	p.Q341K	ANK2_ENST00000394537.3_Missense_Mutation_p.Q341K|ANK2_ENST00000264366.6_Missense_Mutation_p.Q341K|ANK2_ENST00000506722.1_Missense_Mutation_p.Q320K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	341					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATGGCTGCCCAGGGAGACCA	0.458																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(1021-1023)Cag>Aag		ankyrin 2, neuronal							175.0	153.0	161.0					4																	114176921		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114176921C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1021C>A	4.37:g.114176921C>A	ENSP00000349588:p.Gln341Lys					ANK2_ENST00000264366.6_Missense_Mutation_p.Q341K|ANK2_ENST00000506722.1_Missense_Mutation_p.Q320K|ANK2_ENST00000394537.3_Missense_Mutation_p.Q341K	p.Q341K	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	11	1074	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	341					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.1021C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	33	5.227076	0.95173	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.64618	-0.11;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.69	5.69	0.88448	Ankyrin repeat-containing domain (3);	0.241588	0.28983	N	0.013508	T	0.63896	0.2550	N	0.11201	0.11	0.80722	D	1	B;P;B;P;P	0.36683	0.252;0.565;0.112;0.516;0.532	B;P;B;B;B	0.53760	0.37;0.734;0.197;0.281;0.295	T	0.69355	-0.5167	10	0.72032	D	0.01	.	19.8152	0.96564	0.0:1.0:0.0:0.0	.	341;341;341;320;320	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	K	320;320;320;356;341;341;341;320	ENSP00000423799:Q320K;ENSP00000421011:Q320K;ENSP00000421067:Q320K;ENSP00000424722:Q356K;ENSP00000378044:Q341K;ENSP00000349588:Q341K;ENSP00000264366:Q341K	ENSP00000264366:Q341K	Q	+	1	0	ANK2	114396370	1.000000	0.71417	0.946000	0.38457	0.990000	0.78478	7.787000	0.85759	2.692000	0.91855	0.655000	0.94253	CAG		0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		7	251	7	251	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126242169	126242169	+	Missense_Mutation	SNP	C	C	A	rs375824375		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:126242169C>A	ENST00000394329.3	+	1	4616	c.4603C>A	c.(4603-4605)Ctt>Att	p.L1535I		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1535	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAAAACGCCCTTGCTGCAGA	0.433																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(4603-4605)Ctt>Att		FAT atypical cadherin 4							161.0	148.0	152.0					4																	126242169		1959	4157	6116	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126242169C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4603C>A	4.37:g.126242169C>A	ENSP00000377862:p.Leu1535Ile						p.L1535I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			1	4616	+			1535			Cadherin 15.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4603C>A	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037483	0.35989	.	.	ENSG00000196159	ENST00000394329	T	0.60920	0.15	4.35	4.35	0.52113	Cadherin-like (1);	0.000000	0.30695	U	0.009072	T	0.60301	0.2258	L	0.28740	0.885	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.53019	-0.8497	10	0.19590	T	0.45	.	11.0027	0.47616	0.0:0.9144:0.0:0.0856	.	1535	Q6V0I7	FAT4_HUMAN	I	1535	ENSP00000377862:L1535I	ENSP00000377862:L1535I	L	+	1	0	FAT4	126461619	1.000000	0.71417	0.978000	0.43139	0.905000	0.53344	3.767000	0.55288	2.420000	0.82092	0.655000	0.94253	CTT		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	372	7	372	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126411433	126411433	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:126411433G>T	ENST00000394329.3	+	17	13469	c.13456G>T	c.(13456-13458)Ggg>Tgg	p.G4486W	FAT4_ENST00000335110.5_Missense_Mutation_p.G2727W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4486					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGTCCTGCGGGGCATGTCTG	0.617																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(13456-13458)Ggg>Tgg		FAT atypical cadherin 4							88.0	86.0	87.0					4																	126411433		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126411433G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13456G>T	4.37:g.126411433G>T	ENSP00000377862:p.Gly4486Trp					FAT4_ENST00000335110.5_Missense_Mutation_p.G2727W	p.G4486W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			17	13469	+			4486					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.13456G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410443	0.25465	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76968	-0.9;-1.06	4.64	4.64	0.57946	.	0.256250	0.20532	U	0.090485	D	0.84656	0.5520	M	0.73217	2.22	0.34800	D	0.736641	D;D;D	0.71674	0.992;0.998;0.992	D;P;D	0.63113	0.911;0.87;0.911	D	0.87995	0.2752	10	0.44086	T	0.13	.	12.2344	0.54508	0.0851:0.0:0.9149:0.0	.	2727;4486;4485	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	W	4486;2727	ENSP00000377862:G4486W;ENSP00000335169:G2727W	ENSP00000335169:G2727W	G	+	1	0	FAT4	126630883	1.000000	0.71417	0.127000	0.21898	0.003000	0.03518	5.120000	0.64685	2.395000	0.81488	0.561000	0.74099	GGG		0.617	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		5	162	5	162	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138449941	138449941	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:138449941C>A	ENST00000344876.4	-	2	2907	c.2521G>T	c.(2521-2523)Ggg>Tgg	p.G841W	PCDH18_ENST00000511115.1_Missense_Mutation_p.G21W|PCDH18_ENST00000412923.2_Missense_Mutation_p.G840W|PCDH18_ENST00000510305.1_Missense_Mutation_p.G52W|PCDH18_ENST00000507846.1_Missense_Mutation_p.G620W	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	841					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGATATTGCCCCTGGTGAAGC	0.403																																						ENST00000344876.4																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(2521-2523)Ggg>Tgg		protocadherin 18							124.0	134.0	130.0					4																	138449941		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138449941C>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2521G>T	4.37:g.138449941C>A	ENSP00000355082:p.Gly841Trp					PCDH18_ENST00000412923.2_Missense_Mutation_p.G840W|PCDH18_ENST00000507846.1_Missense_Mutation_p.G620W|PCDH18_ENST00000510305.1_Missense_Mutation_p.G52W|PCDH18_ENST00000511115.1_Missense_Mutation_p.G21W	p.G841W	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN			2	2907	-	all_hematologic(180;0.24)		841					A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2521G>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798370	0.90538	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.60672	0.42;0.28;0.17;0.85;0.88	5.03	5.03	0.67393	.	0.000000	0.43919	D	0.000515	T	0.76212	0.3956	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;0.995;0.975;0.995	T	0.78853	-0.2040	10	0.87932	D	0	.	18.5701	0.91132	0.0:1.0:0.0:0.0	.	21;620;840;841	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	W	841;840;620;52;21	ENSP00000355082:G841W;ENSP00000390688:G840W;ENSP00000425903:G620W;ENSP00000424269:G52W;ENSP00000425647:G21W	ENSP00000355082:G841W	G	-	1	0	PCDH18	138669391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.607000	0.88179	0.655000	0.94253	GGG		0.403	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		7	300	7	300	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140641171	140641171	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:140641171C>A	ENST00000509479.2	-	5	3579	c.2723G>T	c.(2722-2724)gGg>gTg	p.G908V	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CATTCCAACCCCCTGCCCAGA	0.557																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2722-2724)gGg>gTg		mastermind-like 3 (Drosophila)							187.0	191.0	189.0					4																	140641171		2000	4186	6186	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140641171C>A	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2723G>T	4.37:g.140641171C>A	ENSP00000421180:p.Gly908Val					MGST2_ENST00000515137.1_Intron	p.G908V	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN			5	3579	-	all_hematologic(180;0.162)		904			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2723G>T	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275141	0.59649	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.28895	1.59	5.81	5.81	0.92471	.	0.224633	0.35708	N	0.003036	T	0.31827	0.0809	M	0.62723	1.935	0.80722	D	1	B;B	0.29909	0.261;0.261	B;B	0.17979	0.02;0.02	T	0.05209	-1.0899	10	0.46703	T	0.11	.	15.4216	0.75015	0.0:0.7564:0.2436:0.0	.	908;904	E7EVW8;Q96JK9	.;MAML3_HUMAN	V	908;215	ENSP00000421180:G908V	ENSP00000421180:G908V	G	-	2	0	MAML3	140860621	0.975000	0.34042	0.956000	0.39512	0.980000	0.70556	3.012000	0.49575	2.738000	0.93877	0.655000	0.94253	GGG		0.557	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	390	7	390	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155526061	155526061	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:155526061C>A	ENST00000336098.3	-	9	1325	c.1287G>T	c.(1285-1287)ggG>ggT	p.G429G	FGG_ENST00000407946.1_Silent_p.G437G|FGG_ENST00000405164.1_Silent_p.G437G|FGG_ENST00000404648.3_Silent_p.G429G	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	429	Platelet aggregation and Staphylococcus clumping.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTTTGGCTCCCCCCAGGTGGT	0.448																																						ENST00000404648.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1285-1287)ggG>ggT		fibrinogen gamma chain	Sucralfate(DB00364)						190.0	181.0	184.0					4																	155526061		2203	4300	6503	SO:0001819	synonymous_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155526061C>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.1287G>T	4.37:g.155526061C>A						FGG_ENST00000405164.1_Silent_p.G437G|FGG_ENST00000336098.3_Silent_p.G429G|FGG_ENST00000407946.1_Silent_p.G437G	p.G429G	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN			9	1526	-	all_hematologic(180;0.215)	Renal(120;0.0458)	429			Platelet aggregation and Staphylococcus clumping.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	c.1287G>T	CCDS3788.1																																																																																				0.448	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		8	358	8	358	---	---	---	---
GLRB	2743	broad.mit.edu	37	4	158073995	158073995	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:158073995C>A	ENST00000264428.4	+	9	1300	c.1030C>A	c.(1030-1032)Ctg>Atg	p.L344M	GLRB_ENST00000541722.1_Intron|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.L344M	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	344					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GTTTGCTTCCCTGGTGGAGTA	0.488																																						ENST00000264428.4																			0				central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27						c.(1030-1032)Ctg>Atg		glycine receptor, beta	Glycine(DB00145)						155.0	144.0	148.0					4																	158073995		2203	4300	6503	SO:0001583	missense	2743				nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	g.chr4:158073995C>A	U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.1030C>A	4.37:g.158073995C>A	ENSP00000264428:p.Leu344Met					GLRB_ENST00000509282.1_Missense_Mutation_p.L344M|GLRB_ENST00000541722.1_Intron|GLRB_ENST00000512619.1_Intron	p.L344M	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	9	1300	+	all_hematologic(180;0.24)	Renal(120;0.0458)	344					A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	ENST00000264428.4	37	c.1030C>A	CCDS3796.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551016	0.65311	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.87334	-2.24;-2.24	5.61	5.61	0.85477	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.218846	0.39544	N	0.001323	D	0.92338	0.7569	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.92789	0.6247	10	0.87932	D	0	.	14.8507	0.70295	0.0:0.9293:0.0:0.0707	.	344	P48167	GLRB_HUMAN	M	344	ENSP00000264428:L344M;ENSP00000427186:L344M	ENSP00000264428:L344M	L	+	1	2	GLRB	158293445	0.950000	0.32346	0.993000	0.49108	0.896000	0.52359	2.168000	0.42424	2.642000	0.89623	0.650000	0.86243	CTG		0.488	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366507.1	NM_000824		5	168	5	168	---	---	---	---
NAF1	92345	broad.mit.edu	37	4	164050386	164050386	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:164050386G>T	ENST00000274054.2	-	8	1341	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	383					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GCAAGATCGAGGGTATCTGGC	0.438																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(1147-1149)cCt>cAt		nuclear assembly factor 1 ribonucleoprotein							112.0	120.0	117.0					4																	164050386		2203	4300	6503	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050386G>T		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1148C>A	4.37:g.164050386G>T	ENSP00000274054:p.Pro383His					NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	p.P383H	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			8	1341	-	all_hematologic(180;0.166)	Prostate(90;0.109)	383					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1148C>A	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	2.241	-0.373850	0.05034	.	.	ENSG00000145414	ENST00000274054	T	0.48836	0.8	4.61	3.77	0.43336	.	0.447919	0.23364	N	0.048985	T	0.32194	0.0821	L	0.29908	0.895	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.14448	-1.0472	10	0.31617	T	0.26	-6.3255	7.7996	0.29166	0.1962:0.0:0.8038:0.0	.	383	Q96HR8	NAF1_HUMAN	H	383	ENSP00000274054:P383H	ENSP00000274054:P383H	P	-	2	0	NAF1	164269836	0.957000	0.32711	0.028000	0.17463	0.004000	0.04260	3.153000	0.50685	1.252000	0.44001	0.591000	0.81541	CCT		0.438	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		5	165	5	165	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187541626	187541626	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:187541626G>T	ENST00000441802.2	-	10	6323	c.6114C>A	c.(6112-6114)ccC>ccA	p.P2038P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2038	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CACGATCGAAGGGCGTGCCAG	0.488										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(6112-6114)ccC>ccA		FAT atypical cadherin 1							187.0	185.0	186.0					4																	187541626		1939	4130	6069	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541626G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6114C>A	4.37:g.187541626G>T		HNSCC(5;0.00058)					p.P2038P	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	6323	-			2038			Cadherin 18.			Silent	SNP	ENST00000441802.2	37	c.6114C>A	CCDS47177.1																																																																																				0.488	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	407	7	407	---	---	---	---
SDHA	6389	broad.mit.edu	37	5	233690	233690	+	Missense_Mutation	SNP	C	C	A	rs373509391		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:233690C>A	ENST00000264932.6	+	8	1109	c.994C>A	c.(994-996)Cct>Act	p.P332T	SDHA_ENST00000504309.1_Missense_Mutation_p.P332T|SDHA_ENST00000510361.1_Missense_Mutation_p.P284T	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	332					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCGATACGCCCCTGTCGCGAA	0.527									Familial Paragangliomas																													ENST00000264932.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(994-996)Cct>Act		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						175.0	155.0	162.0					5																	233690		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:233690C>A	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.994C>A	5.37:g.233690C>A	ENSP00000264932:p.Pro332Thr					SDHA_ENST00000510361.1_Missense_Mutation_p.P284T|SDHA_ENST00000504309.1_Missense_Mutation_p.P332T	p.P332T	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		8	1109	+			332					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.994C>A	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	N	19.12	3.765903	0.69878	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	T;T;T	0.47528	0.84;0.84;0.84	4.51	4.51	0.55191	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.79179	0.4402	H	0.97491	4.015	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.981;0.991;0.991;0.991	D;D;D;D;D	0.75484	0.986;0.973;0.937;0.97;0.97	D	0.87055	0.2149	10	0.87932	D	0	.	15.0787	0.72096	0.0:1.0:0.0:0.0	.	284;332;332;332;338	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	T	332;187;332;284	ENSP00000264932:P332T;ENSP00000426514:P332T;ENSP00000427703:P284T	ENSP00000264932:P332T	P	+	1	0	SDHA	286690	1.000000	0.71417	0.392000	0.26245	0.548000	0.35241	6.951000	0.75983	2.195000	0.70347	0.650000	0.86243	CCT		0.527	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		6	242	6	242	---	---	---	---
CEP72	55722	broad.mit.edu	37	5	635690	635690	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:635690C>A	ENST00000264935.5	+	6	985	c.895C>A	c.(895-897)Cca>Aca	p.P299T	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	299					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			GTACTTCACCCCACACCCAGG	0.532																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(895-897)Cca>Aca		centrosomal protein 72kDa							54.0	60.0	58.0					5																	635690		2203	4300	6503	SO:0001583	missense	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:635690C>A	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.895C>A	5.37:g.635690C>A	ENSP00000264935:p.Pro299Thr					CEP72_ENST00000444221.1_3'UTR	p.P299T	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		6	985	+			299					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Missense_Mutation	SNP	ENST00000264935.5	37	c.895C>A	CCDS34126.1	.	.	.	.	.	.	.	.	.	.	C	8.691	0.907412	0.17833	.	.	ENSG00000112877	ENST00000264935	T	0.09163	3.01	3.76	0.662	0.17880	.	0.599365	0.16702	N	0.203066	T	0.06416	0.0165	N	0.22421	0.69	0.09310	N	0.999999	B	0.14438	0.01	B	0.08055	0.003	T	0.30327	-0.9982	10	0.62326	D	0.03	-0.9605	4.9821	0.14170	0.3675:0.5242:0.0:0.1084	.	299	Q9P209	CEP72_HUMAN	T	299	ENSP00000264935:P299T	ENSP00000264935:P299T	P	+	1	0	CEP72	688690	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.127000	0.15790	-0.007000	0.14345	0.563000	0.77884	CCA		0.532	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		5	115	5	115	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26881607	26881607	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:26881607G>T	ENST00000231021.4	-	12	2180	c.2008C>A	c.(2008-2010)Caa>Aaa	p.Q670K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	670					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCAAAAGCTTGGGTATCTTCT	0.433																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(2008-2010)Caa>Aaa		cadherin 9, type 2 (T1-cadherin)							183.0	183.0	183.0					5																	26881607		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881607G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2008C>A	5.37:g.26881607G>T	ENSP00000231021:p.Gln670Lys						p.Q670K	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			12	2180	-			670					Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2008C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759262	0.69763	.	.	ENSG00000113100	ENST00000231021	T	0.76448	-1.02	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.89687	0.6787	M	0.89840	3.065	0.49483	D	0.999794	D;D	0.60160	0.987;0.971	D;D	0.67382	0.95;0.951	D	0.91460	0.5188	9	.	.	.	.	17.1426	0.86758	0.0:0.0:1.0:0.0	.	263;670	B4DFP0;Q9ULB4	.;CADH9_HUMAN	K	670	ENSP00000231021:Q670K	.	Q	-	1	0	CDH9	26917364	1.000000	0.71417	0.945000	0.38365	0.918000	0.54935	7.790000	0.85794	2.447000	0.82792	0.557000	0.71058	CAA		0.433	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		6	390	6	390	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34821917	34821917	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:34821917C>A	ENST00000265109.3	+	14	1362	c.1075C>A	c.(1075-1077)Ctt>Att	p.L359I	RAI14_ENST00000503673.1_Missense_Mutation_p.L359I|RAI14_ENST00000428746.2_Missense_Mutation_p.L359I|RAI14_ENST00000397449.1_Missense_Mutation_p.L352I|RAI14_ENST00000512629.1_Missense_Mutation_p.L330I|RAI14_ENST00000506376.1_Missense_Mutation_p.L351I|RAI14_ENST00000515799.1_Missense_Mutation_p.L362I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	359						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGTTGCTTCCCTTACCTTACA	0.368																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1075-1077)Ctt>Att		retinoic acid induced 14							102.0	98.0	99.0					5																	34821917		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34821917C>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1075C>A	5.37:g.34821917C>A	ENSP00000265109:p.Leu359Ile					RAI14_ENST00000512629.1_Missense_Mutation_p.L330I|RAI14_ENST00000503673.1_Missense_Mutation_p.L359I|RAI14_ENST00000397449.1_Missense_Mutation_p.L352I|RAI14_ENST00000428746.2_Missense_Mutation_p.L359I|RAI14_ENST00000515799.1_Missense_Mutation_p.L362I|RAI14_ENST00000506376.1_Missense_Mutation_p.L351I	p.L359I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			14	1362	+	all_lung(31;0.000191)		359					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1075C>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123647	0.77436	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.52526	0.67;0.72;0.67;0.67;0.66;0.71;0.7	5.69	5.69	0.88448	.	.	.	.	.	T	0.54532	0.1864	L	0.34521	1.04	0.43740	D	0.996235	D;D;D;D	0.89917	0.998;0.997;1.0;0.997	D;D;D;D	0.85130	0.996;0.991;0.997;0.991	T	0.43327	-0.9398	9	0.19147	T	0.46	-6.7957	12.6481	0.56746	0.0:0.8823:0.0:0.1177	.	351;330;362;359	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	I	359;330;359;359;362;351;352	ENSP00000265109:L359I;ENSP00000422377:L330I;ENSP00000388725:L359I;ENSP00000422942:L359I;ENSP00000427123:L362I;ENSP00000423854:L351I;ENSP00000380591:L352I	ENSP00000265109:L359I	L	+	1	0	RAI14	34857674	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.955000	0.29188	2.688000	0.91661	0.650000	0.86243	CTT		0.368	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		6	238	6	238	---	---	---	---
PRLR	5618	broad.mit.edu	37	5	35065849	35065849	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:35065849G>T	ENST00000382002.5	-	10	1637	c.1211C>A	c.(1210-1212)cCc>cAc	p.P404H	PRLR_ENST00000511486.1_Missense_Mutation_p.P303H|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000509934.1_5'Flank|PRLR_ENST00000342362.5_Missense_Mutation_p.P303H|PRLR_ENST00000513753.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	404					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	ATGAAAATAGGGGATTTTGCC	0.493																																						ENST00000382002.5																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(1210-1212)cCc>cAc		prolactin receptor	Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)						153.0	160.0	158.0					5																	35065849		2203	4300	6503	SO:0001583	missense	5618				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	g.chr5:35065849G>T		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1211C>A	5.37:g.35065849G>T	ENSP00000371432:p.Pro404His					PRLR_ENST00000397391.3_Intron|PRLR_ENST00000342362.5_Missense_Mutation_p.P303H|PRLR_ENST00000511486.1_Missense_Mutation_p.P303H|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000542609.1_Intron	p.P404H	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		10	1637	-	all_lung(31;3.83e-05)		404					B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	37	c.1211C>A	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	G	9.552	1.116059	0.20795	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	T;T;T	0.75367	-0.93;-0.93;-0.93	5.84	3.03	0.35002	.	0.557434	0.21639	N	0.071376	D	0.85500	0.5711	M	0.90814	3.15	0.09310	N	1	D;D	0.71674	0.996;0.998	D;D	0.68621	0.91;0.959	T	0.75994	-0.3121	10	0.72032	D	0.01	-0.0907	6.8754	0.24143	0.143:0.0:0.6244:0.2326	.	404;303	P16471;P16471-2	PRLR_HUMAN;.	H	303;404;303	ENSP00000339213:P303H;ENSP00000371432:P404H;ENSP00000422556:P303H	ENSP00000339213:P303H	P	-	2	0	PRLR	35101606	0.166000	0.22962	0.000000	0.03702	0.035000	0.12851	1.583000	0.36579	0.347000	0.23924	0.563000	0.77884	CCC		0.493	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2			6	251	6	251	---	---	---	---
NADK2	133686	broad.mit.edu	37	5	36217949	36217949	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:36217949C>A	ENST00000381937.4	-	6	681	c.682G>T	c.(682-684)Ggg>Tgg	p.G228W	NADK2_ENST00000506945.1_Missense_Mutation_p.G65W|NADK2_ENST00000514504.1_Missense_Mutation_p.G228W|NADK2_ENST00000282512.3_Missense_Mutation_p.G65W|NADK2_ENST00000397338.1_Missense_Mutation_p.G65W	NM_001085411.1	NP_001078880.1	Q4G0N4	NAKD2_HUMAN	NAD kinase 2, mitochondrial	228					NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803)										ATGCCAGTCCCTTCAAGGTAT	0.388																																						ENST00000397338.1																			0											c.(193-195)Ggg>Tgg		NAD kinase 2, mitochondrial							141.0	124.0	130.0					5																	36217949		2203	4300	6503	SO:0001583	missense	133686							g.chr5:36217949C>A	BC062567	CCDS3917.1, CCDS47197.1, CCDS75235.1	5p13.2	2013-04-30	2013-04-30	2013-04-30	ENSG00000152620	ENSG00000152620			26404	protein-coding gene	gene with protein product	"""mitochondrial NAD kinase"""	615787	"""chromosome 5 open reading frame 33"", ""NAD kinase domain containing 1"""	C5orf33, NADKD1		23616928	Standard	NM_001085411		Approved	FLJ30596, MNADK	uc003jkf.4	Q4G0N4	OTTHUMG00000131105	ENST00000381937.4:c.682G>T	5.37:g.36217949C>A	ENSP00000371362:p.Gly228Trp					NADK2_ENST00000282512.3_Missense_Mutation_p.G65W|NADK2_ENST00000514504.1_Missense_Mutation_p.G228W|NADK2_ENST00000506945.1_Missense_Mutation_p.G65W|NADK2_ENST00000381937.4_Missense_Mutation_p.G228W	p.G65W							6	414	-								B5MC93|Q6UTX5|Q96NM0	Missense_Mutation	SNP	ENST00000381937.4	37	c.193G>T	CCDS47197.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096824	0.94197	.	.	ENSG00000152620	ENST00000397338;ENST00000282512;ENST00000381937;ENST00000506945;ENST00000514504;ENST00000511088	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	6.08	6.08	0.98989	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	M	0.79475	2.455	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	T	0.69584	-0.5106	10	0.87932	D	0	-18.811	20.2672	0.98462	0.0:1.0:0.0:0.0	.	65;228;228	B7Z8V7;Q4G0N4-2;Q4G0N4	.;.;NAKD1_HUMAN	W	65;65;228;65;228;65	ENSP00000380499:G65W;ENSP00000282512:G65W;ENSP00000371362:G228W;ENSP00000422250:G65W;ENSP00000421029:G228W;ENSP00000426084:G65W	ENSP00000282512:G65W	G	-	1	0	NADKD1	36253706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.938000	0.75904	2.894000	0.99253	0.591000	0.81541	GGG		0.388	NADK2-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367541.1	NM_153013		5	178	5	178	---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38427338	38427338	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:38427338G>T	ENST00000354891.3	+	14	2384	c.2038G>T	c.(2038-2040)Ggg>Tgg	p.G680W	EGFLAM_ENST00000397202.2_Missense_Mutation_p.G46W|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G446W|EGFLAM_ENST00000322350.5_Missense_Mutation_p.G680W|EGFLAM-AS1_ENST00000508986.1_RNA	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	680	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGTGGCTCTGGGACCGGTGT	0.502																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2038-2040)Ggg>Tgg		EGF-like, fibronectin type III and laminin G domains							148.0	151.0	150.0					5																	38427338		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38427338G>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2038G>T	5.37:g.38427338G>T	ENSP00000346964:p.Gly680Trp					EGFLAM_ENST00000336740.6_Missense_Mutation_p.G446W|EGFLAM_ENST00000354891.3_Missense_Mutation_p.G680W|EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G46W	p.G680W	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			14	2384	+	all_lung(31;0.000385)		680			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2038G>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530691	0.85706	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;D	0.82433	-0.79;-0.79;-0.79;-1.61	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.106321	0.64402	D	0.000003	D	0.94268	0.8159	H	0.95328	3.655	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	0.95437	0.8522	10	0.87932	D	0	-5.1667	19.6594	0.95859	0.0:0.0:1.0:0.0	.	446;680;680	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	W	680;680;446;46;446	ENSP00000346964:G680W;ENSP00000313084:G680W;ENSP00000337607:G446W;ENSP00000380385:G46W	ENSP00000313084:G680W	G	+	1	0	EGFLAM	38463095	1.000000	0.71417	0.790000	0.31976	0.993000	0.82548	9.395000	0.97266	2.657000	0.90304	0.561000	0.74099	GGG		0.502	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		6	313	6	313	---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38481998	38481998	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:38481998C>A	ENST00000263409.4	-	20	3155	c.2993G>T	c.(2992-2994)gGg>gTg	p.G998V	LIFR_ENST00000453190.2_Missense_Mutation_p.G998V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	998					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATAGCCTGCCCCTCCTACAGG	0.458			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	ENST00000263409.4				Dom	yes		5	5p13-p12	3977	T	leukemia inhibitory factor receptor			E	PLAG1		salivary adenoma		0				NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78						c.(2992-2994)gGg>gTg		leukemia inhibitory factor receptor alpha							102.0	105.0	104.0					5																	38481998		2203	4300	6503	SO:0001583	missense	3977				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	g.chr5:38481998C>A	X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2993G>T	5.37:g.38481998C>A	ENSP00000263409:p.Gly998Val					LIFR_ENST00000453190.2_Missense_Mutation_p.G998V	p.G998V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN			20	3155	-	all_lung(31;0.00021)		998					Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	c.2993G>T	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	8.319	0.823950	0.16678	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.58797	0.31;0.31	6.06	3.16	0.36331	.	0.658481	0.16402	N	0.215983	T	0.38134	0.1029	N	0.16478	0.41	0.18873	N	0.999982	B	0.09022	0.002	B	0.10450	0.005	T	0.15492	-1.0435	10	0.09590	T	0.72	-3.5267	12.6725	0.56874	0.1119:0.4835:0.4046:0.0	.	998	P42702	LIFR_HUMAN	V	998	ENSP00000263409:G998V;ENSP00000398368:G998V	ENSP00000263409:G998V	G	-	2	0	LIFR	38517755	0.001000	0.12720	0.026000	0.17262	0.894000	0.52154	0.402000	0.20965	0.355000	0.24131	0.650000	0.86243	GGG		0.458	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310		6	214	6	214	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41061824	41061824	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:41061824G>T	ENST00000399564.4	-	6	913	c.463C>A	c.(463-465)Ctt>Att	p.L155I		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	155																	AATTTCTCAAGGGCTGCATTT	0.398																																						ENST00000399564.4																			0											c.(463-465)Ctt>Att		maestro heat-like repeat family member 2B							82.0	77.0	78.0					5																	41061824		1833	4092	5925	SO:0001583	missense	133558							g.chr5:41061824G>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.463C>A	5.37:g.41061824G>T	ENSP00000382476:p.Leu155Ile						p.L155I	NM_173489.4	NP_775760.3					6	913	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.463C>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333017	0.81801	.	.	ENSG00000171495	ENST00000399564	T	0.06449	3.3	5.81	5.81	0.92471	Armadillo-type fold (1);	0.000000	0.51477	D	0.000097	T	0.22126	0.0533	M	0.63843	1.955	0.34708	D	0.727412	D	0.71674	0.998	D	0.83275	0.996	T	0.03933	-1.0991	10	0.35671	T	0.21	.	15.5834	0.76462	0.0:0.0:1.0:0.0	.	155	Q7Z745	HTRB2_HUMAN	I	155	ENSP00000382476:L155I	ENSP00000382476:L155I	L	-	1	0	HEATR7B2	41097581	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.428000	0.59894	2.756000	0.94617	0.655000	0.94253	CTT		0.398	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		4	75	4	75	---	---	---	---
C6	729	broad.mit.edu	37	5	41195902	41195902	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:41195902C>A	ENST00000263413.3	-	5	843	c.579G>T	c.(577-579)atG>atT	p.M193I	C6_ENST00000337836.5_Missense_Mutation_p.M193I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	193	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACCCATTGCCCATCAACTGTA	0.433																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(577-579)atG>atT		complement component 6							279.0	247.0	258.0					5																	41195902		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41195902C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.579G>T	5.37:g.41195902C>A	ENSP00000263413:p.Met193Ile					C6_ENST00000337836.5_Missense_Mutation_p.M193I	p.M193I	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			5	843	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	193			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.579G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	9.718	1.158788	0.21454	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.59083	0.29;0.29	5.65	5.65	0.86999	Membrane attack complex component/perforin (MACPF) domain (1);	0.116513	0.85682	D	0.000000	T	0.47266	0.1436	L	0.35487	1.065	0.54753	D	0.999988	B	0.06786	0.001	B	0.06405	0.002	T	0.40251	-0.9573	10	0.11485	T	0.65	-21.6737	18.4936	0.90856	0.0:1.0:0.0:0.0	.	193	P13671	CO6_HUMAN	I	193	ENSP00000338861:M193I;ENSP00000263413:M193I	ENSP00000263413:M193I	M	-	3	0	C6	41231659	1.000000	0.71417	1.000000	0.80357	0.591000	0.36615	1.981000	0.40628	2.657000	0.90304	0.650000	0.86243	ATG		0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			6	256	6	256	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43649338	43649338	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:43649338G>T	ENST00000264663.5	+	11	1755	c.1534G>T	c.(1534-1536)Ggg>Tgg	p.G512W	NNT_ENST00000512996.2_Missense_Mutation_p.G381W|NNT_ENST00000344920.4_Missense_Mutation_p.G512W	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	512					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TGGCATTGTGGGGTATCATAC	0.502																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1534-1536)Ggg>Tgg		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						303.0	281.0	289.0					5																	43649338		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43649338G>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1534G>T	5.37:g.43649338G>T	ENSP00000264663:p.Gly512Trp					NNT_ENST00000344920.4_Missense_Mutation_p.G512W|NNT_ENST00000512996.2_Missense_Mutation_p.G381W	p.G512W	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			11	1755	+	Lung NSC(6;2.58e-06)		512					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1534G>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121406	0.77436	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.92099	-2.97;-2.97;-2.97	5.24	5.24	0.73138	NAD(P) transhydrogenase, alpha subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98002	0.9342	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99761	1.1021	10	0.87932	D	0	-4.5764	18.8646	0.92287	0.0:0.0:1.0:0.0	.	512	Q13423	NNTM_HUMAN	W	27;512;512;381	ENSP00000264663:G512W;ENSP00000343873:G512W;ENSP00000426343:G381W	ENSP00000264663:G512W	G	+	1	0	NNT	43685095	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	9.431000	0.97494	2.464000	0.83262	0.644000	0.83932	GGG		0.502	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		7	442	7	442	---	---	---	---
ITGA1	3672	broad.mit.edu	37	5	52183671	52183671	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:52183671G>T	ENST00000282588.6	+	8	1256	c.798G>T	c.(796-798)cgG>cgT	p.R266R		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	266	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CGGAAGCCCGGGGTGCCCGAA	0.398																																						ENST00000282588.6																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(796-798)cgG>cgT		integrin, alpha 1							93.0	94.0	94.0					5																	52183671		2203	4300	6503	SO:0001819	synonymous_variant	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52183671G>T	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.798G>T	5.37:g.52183671G>T							p.R266R	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN			8	1256	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	266			VWFA.		B2RNU0	Silent	SNP	ENST00000282588.6	37	c.798G>T	CCDS3955.1																																																																																				0.398	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		5	131	5	131	---	---	---	---
TMEM171	134285	broad.mit.edu	37	5	72419699	72419699	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:72419699G>T	ENST00000454765.2	+	2	972	c.499G>T	c.(499-501)Ggg>Tgg	p.G167W	TMEM171_ENST00000287773.5_Missense_Mutation_p.G167W			Q8WVE6	TM171_HUMAN	transmembrane protein 171	167						integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCAGATCATGGGGCCCTTGAT	0.547																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(499-501)Ggg>Tgg		transmembrane protein 171							161.0	161.0	161.0					5																	72419699		2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72419699G>T	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.499G>T	5.37:g.72419699G>T	ENSP00000415030:p.Gly167Trp					TMEM171_ENST00000287773.5_Missense_Mutation_p.G167W	p.G167W			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	2	972	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	167					Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.499G>T	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117286	0.77323	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.46819	0.86;0.86	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	T	0.62048	0.2396	L	0.36672	1.1	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64968	-0.6282	10	0.87932	D	0	-21.0456	19.0547	0.93058	0.0:0.0:1.0:0.0	.	167;167	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	W	167	ENSP00000415030:G167W;ENSP00000287773:G167W	ENSP00000287773:G167W	G	+	1	0	TMEM171	72455455	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.668000	0.74457	2.512000	0.84698	0.462000	0.41574	GGG		0.547	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		5	179	5	179	---	---	---	---
TMEM171	134285	broad.mit.edu	37	5	72427549	72427549	+	Missense_Mutation	SNP	C	C	A	rs17853415		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:72427549C>A	ENST00000454765.2	+	4	1440	c.967C>A	c.(967-969)Cca>Aca	p.P323T	RP11-232L2.2_ENST00000508255.1_RNA|TMEM171_ENST00000287773.5_Missense_Mutation_p.P322T			Q8WVE6	TM171_HUMAN	transmembrane protein 171	323				P -> S (in Ref. 2; AAH35310). {ECO:0000305}.		integral component of membrane (GO:0016021)				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TGAGCCTTCCCCACCGTAAAC	0.353																																					NSCLC(112;638 2280 27369 30736)	ENST00000454765.2																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15						c.(967-969)Cca>Aca		transmembrane protein 171							123.0	121.0	122.0					5																	72427549		2203	4300	6503	SO:0001583	missense	134285					integral to membrane		g.chr5:72427549C>A	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.967C>A	5.37:g.72427549C>A	ENSP00000415030:p.Pro323Thr					TMEM171_ENST00000287773.5_Missense_Mutation_p.P322T	p.P323T			Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	4	1440	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	323	P -> S (in Ref. 2; AAH35310).				Q8N0S1|Q8TDT7	Missense_Mutation	SNP	ENST00000454765.2	37	c.967C>A	CCDS4017.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902819	0.33628	.	.	ENSG00000157111	ENST00000454765;ENST00000287773	T;T	0.24908	1.83;1.83	5.22	1.3	0.21679	.	0.576874	0.15607	N	0.253573	T	0.22044	0.0531	M	0.65975	2.015	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.009	T	0.35525	-0.9785	10	0.62326	D	0.03	-0.2212	1.2909	0.02060	0.1393:0.3447:0.2716:0.2444	.	322;323	Q8WVE6-2;Q8WVE6	.;TM171_HUMAN	T	323;322	ENSP00000415030:P323T;ENSP00000287773:P322T	ENSP00000287773:P322T	P	+	1	0	TMEM171	72463305	0.003000	0.15002	0.001000	0.08648	0.010000	0.07245	0.305000	0.19254	-0.045000	0.13468	-0.253000	0.11424	CCA		0.353	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		6	329	6	329	---	---	---	---
CRHBP	1393	broad.mit.edu	37	5	76259235	76259235	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:76259235C>A	ENST00000274368.4	+	6	1183	c.761C>A	c.(760-762)cCt>cAt	p.P254H	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	254					behavioral response to ethanol (GO:0048149)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cellular response to cocaine (GO:0071314)|cellular response to drug (GO:0035690)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to potassium ion (GO:0035865)|cellular response to stress (GO:0033554)|cellular response to tumor necrosis factor (GO:0071356)|female pregnancy (GO:0007565)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|inflammatory response (GO:0006954)|learning or memory (GO:0007611)|maternal aggressive behavior (GO:0002125)|negative regulation of corticotropin secretion (GO:0051460)|negative regulation of corticotropin-releasing hormone receptor activity (GO:1900011)|regulated secretory pathway (GO:0045055)|regulation of corticotropin secretion (GO:0051459)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|synaptic transmission, dopaminergic (GO:0001963)	axon terminus (GO:0043679)|dendrite (GO:0030425)|dense core granule (GO:0031045)|extracellular space (GO:0005615)|intracellular (GO:0005622)|microtubule (GO:0005874)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|perikaryon (GO:0043204)|secondary lysosome (GO:0005767)|secretory granule (GO:0030141)|varicosity (GO:0043196)	corticotropin-releasing hormone binding (GO:0051424)|peptide binding (GO:0042277)			kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGATTGGACCCTTCCAAGATG	0.453																																						ENST00000274368.4																			0				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16						c.(760-762)cCt>cAt		corticotropin releasing hormone binding protein							188.0	188.0	188.0					5																	76259235		2203	4300	6503	SO:0001583	missense	1393				female pregnancy|learning or memory|signal transduction	soluble fraction		g.chr5:76259235C>A	X58022	CCDS4034.1	5q	2008-07-18	2001-11-28		ENSG00000145708	ENSG00000145708			2356	protein-coding gene	gene with protein product		122559	"""corticotropin releasing hormone-binding protein"""			8198617	Standard	NM_001882		Approved	CRF-BP, CRFBP	uc003ker.3	P24387	OTTHUMG00000102133	ENST00000274368.4:c.761C>A	5.37:g.76259235C>A	ENSP00000274368:p.Pro254His					CRHBP_ENST00000514258.1_3'UTR	p.P254H	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)	6	1183	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	254					Q53F32|Q6FHT5	Missense_Mutation	SNP	ENST00000274368.4	37	c.761C>A	CCDS4034.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701247	0.88924	.	.	ENSG00000145708	ENST00000274368	.	.	.	5.67	5.67	0.87782	.	0.217717	0.48286	D	0.000195	T	0.78310	0.4263	M	0.72118	2.19	0.80722	D	1	D	0.65815	0.995	P	0.62649	0.905	T	0.79619	-0.1728	9	0.72032	D	0.01	-24.5176	19.7713	0.96366	0.0:1.0:0.0:0.0	.	254	P24387	CRHBP_HUMAN	H	254	.	ENSP00000274368:P254H	P	+	2	0	CRHBP	76294991	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.029000	0.76477	2.662000	0.90505	0.643000	0.83706	CCT		0.453	CRHBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219972.2	NM_001882		7	408	7	408	---	---	---	---
AGGF1	55109	broad.mit.edu	37	5	76349809	76349809	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:76349809C>A	ENST00000312916.7	+	10	1869	c.1487C>A	c.(1486-1488)cCt>cAt	p.P496H		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	496					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAATGTGACCCTTACGTACTT	0.393																																						ENST00000312916.7																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(1486-1488)cCt>cAt		angiogenic factor with G patch and FHA domains 1							138.0	131.0	133.0					5																	76349809		2203	4300	6503	SO:0001583	missense	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76349809C>A	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1487C>A	5.37:g.76349809C>A	ENSP00000316109:p.Pro496His						p.P496H	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	10	1869	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	496					O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	ENST00000312916.7	37	c.1487C>A	CCDS4035.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530152	0.85706	.	.	ENSG00000164252	ENST00000312916	D	0.88201	-2.35	5.21	5.21	0.72293	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.93953	0.8064	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94399	0.7621	10	0.72032	D	0.01	1.353	18.75	0.91810	0.0:1.0:0.0:0.0	.	496	Q8N302	AGGF1_HUMAN	H	496	ENSP00000316109:P496H	ENSP00000316109:P496H	P	+	2	0	AGGF1	76385565	1.000000	0.71417	0.930000	0.37139	0.973000	0.67179	7.762000	0.85270	2.427000	0.82271	0.462000	0.41574	CCT		0.393	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		6	232	6	232	---	---	---	---
WDR41	55255	broad.mit.edu	37	5	76734163	76734163	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:76734163C>A	ENST00000296679.4	-	10	1281	c.906G>T	c.(904-906)agG>agT	p.R302S	WDR41_ENST00000414719.2_Missense_Mutation_p.R48S|WDR41_ENST00000512033.1_5'Flank|WDR41_ENST00000507029.1_Missense_Mutation_p.R247S	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	302						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		CGTATAAACCCCTTCCAACTG	0.458																																						ENST00000296679.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14						c.(904-906)agG>agT		WD repeat domain 41							126.0	112.0	117.0					5																	76734163		2203	4300	6503	SO:0001583	missense	55255							g.chr5:76734163C>A	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.906G>T	5.37:g.76734163C>A	ENSP00000296679:p.Arg302Ser					WDR41_ENST00000414719.2_Missense_Mutation_p.R48S|WDR41_ENST00000507029.1_Missense_Mutation_p.R247S	p.R302S	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	10	1281	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	302					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	Missense_Mutation	SNP	ENST00000296679.4	37	c.906G>T	CCDS4038.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.94|13.94	2.386004|2.386004	0.42308|0.42308	.|.	.|.	ENSG00000164253|ENSG00000164253	ENST00000511630|ENST00000296679;ENST00000414719;ENST00000515253;ENST00000507029;ENST00000507654;ENST00000511791	.|T;T;T;T;T;T	.|0.64260	.|-0.09;-0.09;-0.09;-0.09;0.1;2.33	5.75|5.75	5.75|5.75	0.90469|0.90469	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.249412	.|0.46145	.|D	.|0.000306	T|T	0.50820|0.50820	0.1638|0.1638	L|L	0.43152|0.43152	1.355|1.355	0.43936|0.43936	D|D	0.996593|0.996593	.|B;B;B	.|0.22346	.|0.068;0.068;0.002	.|B;B;B	.|0.15870	.|0.014;0.014;0.0	T|T	0.41752|0.41752	-0.9491|-0.9491	5|10	.|0.22706	.|T	.|0.39	-7.6544|-7.6544	10.7396|10.7396	0.46145|0.46145	0.0:0.8567:0.0:0.1433|0.0:0.8567:0.0:0.1433	.|.	.|247;48;302	.|B4DT55;B4E2L4;Q9HAD4	.|.;.;WDR41_HUMAN	V|S	128|302;48;237;247;73;94	.|ENSP00000296679:R302S;ENSP00000392931:R48S;ENSP00000426499:R237S;ENSP00000424287:R247S;ENSP00000427291:R73S;ENSP00000423540:R94S	.|ENSP00000296679:R302S	G|R	-|-	2|3	0|2	WDR41|WDR41	76769919|76769919	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.648000|0.648000	0.24828|0.24828	2.872000|2.872000	0.98467|0.98467	0.650000|0.650000	0.86243|0.86243	GGG|AGG		0.458	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	NM_018268		8	207	8	207	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82833038	82833038	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:82833038C>A	ENST00000265077.3	+	8	4781	c.4216C>A	c.(4216-4218)Cca>Aca	p.P1406T	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P419T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1406	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GACAACCACCCCATCTGTGCA	0.458																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(4216-4218)Cca>Aca		versican							45.0	47.0	46.0					5																	82833038		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82833038C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4216C>A	5.37:g.82833038C>A	ENSP00000265077:p.Pro1406Thr					VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.P419T|VCAN_ENST00000513016.1_3'UTR	p.P1406T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	4781	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1406			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.4216C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.909203	0.52439	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	D;D;T	0.97811	-4.55;-4.42;0.59	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000009	D	0.98682	0.9558	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99624	1.0984	10	0.87932	D	0	.	20.2284	0.98346	0.0:1.0:0.0:0.0	.	419;1406	P13611-2;P13611	.;CSPG2_HUMAN	T	1406;419;419	ENSP00000265077:P1406T;ENSP00000340062:P419T;ENSP00000426251:P419T	ENSP00000265077:P1406T	P	+	1	0	VCAN	82868794	1.000000	0.71417	0.951000	0.38953	0.359000	0.29487	5.457000	0.66672	2.785000	0.95823	0.650000	0.86243	CCA		0.458	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		4	74	4	74	---	---	---	---
FER	2241	broad.mit.edu	37	5	108521967	108521967	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:108521967G>T	ENST00000281092.4	+	19	2654	c.2270G>T	c.(2269-2271)gGg>gTg	p.G757V	FER_ENST00000438717.2_Missense_Mutation_p.G582V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	757	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TTCAGCTTAGGGGTTTGTCCG	0.488																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(2269-2271)gGg>gTg		fer (fps/fes related) tyrosine kinase							263.0	239.0	247.0					5																	108521967		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108521967G>T	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2270G>T	5.37:g.108521967G>T	ENSP00000281092:p.Gly757Val					FER_ENST00000438717.2_Missense_Mutation_p.G582V	p.G757V	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	19	2654	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	757			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2270G>T	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407192	0.83230	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	T;T	0.51574	0.7;0.7	6.02	5.15	0.70609	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.047283	0.85682	D	0.000000	T	0.75140	0.3809	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81970	-0.0689	10	0.87932	D	0	-16.7372	15.2991	0.73933	0.0668:0.0:0.9332:0.0	.	757	P16591	FER_HUMAN	V	757;582	ENSP00000281092:G757V;ENSP00000394297:G582V	ENSP00000281092:G757V	G	+	2	0	FER	108549866	1.000000	0.71417	0.929000	0.37066	0.769000	0.43574	9.845000	0.99498	1.562000	0.49601	0.655000	0.94253	GGG		0.488	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		6	222	6	222	---	---	---	---
FER	2241	broad.mit.edu	37	5	108523221	108523221	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:108523221C>A	ENST00000281092.4	+	20	2798	c.2414C>A	c.(2413-2415)cCt>cAt	p.P805H	FER_ENST00000438717.2_Missense_Mutation_p.P630H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	805	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GAAAATCGCCCTAAGTTCAGT	0.463																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(2413-2415)cCt>cAt		fer (fps/fes related) tyrosine kinase							85.0	83.0	83.0					5																	108523221		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108523221C>A	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2414C>A	5.37:g.108523221C>A	ENSP00000281092:p.Pro805His					FER_ENST00000438717.2_Missense_Mutation_p.P630H	p.P805H	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	20	2798	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	805			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2414C>A	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030289	0.93575	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.87491	-2.26;-2.26	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.052915	0.85682	D	0.000000	D	0.96278	0.8786	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96841	0.9618	10	0.87932	D	0	-11.7691	20.452	0.99131	0.0:1.0:0.0:0.0	.	805	P16591	FER_HUMAN	H	805;630	ENSP00000281092:P805H;ENSP00000394297:P630H	ENSP00000281092:P805H	P	+	2	0	FER	108551120	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.400000	0.79949	2.838000	0.97847	0.591000	0.81541	CCT		0.463	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		4	134	4	134	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109106195	109106195	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:109106195C>A	ENST00000261483.4	+	7	2201	c.1149C>A	c.(1147-1149)ccC>ccA	p.P383P		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	383					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTGGTTGTCCCTGGGGAGTCC	0.433																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(1147-1149)ccC>ccA		mannosidase, alpha, class 2A, member 1							91.0	87.0	89.0					5																	109106195		2202	4300	6502	SO:0001819	synonymous_variant	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109106195C>A		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1149C>A	5.37:g.109106195C>A							p.P383P	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	7	2201	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	383					Q16767	Silent	SNP	ENST00000261483.4	37	c.1149C>A	CCDS34209.1																																																																																				0.433	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			6	215	6	215	---	---	---	---
DCP2	167227	broad.mit.edu	37	5	112349073	112349073	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:112349073G>T	ENST00000389063.2	+	11	1353	c.1155G>T	c.(1153-1155)gaG>gaT	p.E385D	DCP2_ENST00000515408.1_Missense_Mutation_p.E350D|DCP2_ENST00000543319.1_Missense_Mutation_p.E174D	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	385					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		AACATGCTGAGGGACAGCCCG	0.393																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(1153-1155)gaG>gaT		decapping mRNA 2							187.0	166.0	173.0					5																	112349073		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112349073G>T	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.1155G>T	5.37:g.112349073G>T	ENSP00000373715:p.Glu385Asp					DCP2_ENST00000515408.1_Missense_Mutation_p.E350D|DCP2_ENST00000543319.1_Missense_Mutation_p.E174D	p.E385D	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	11	1353	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	385					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.1155G>T	CCDS34210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	8.731|8.731	0.916674|0.916674	0.17907|0.17907	.|.	.|.	ENSG00000172795|ENSG00000172795	ENST00000515408;ENST00000389063;ENST00000543319|ENST00000513585	T;T|.	0.48201|.	0.82;0.87|.	5.83|5.83	0.981|0.981	0.19756|0.19756	.|.	0.308608|.	0.33959|.	N|.	0.004390|.	T|T	0.35770|0.35770	0.0943|0.0943	L|L	0.29908|0.29908	0.895|0.895	0.37521|0.37521	D|D	0.917537|0.917537	B;B|.	0.06786|.	0.0;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.18808|0.18808	-1.0325|-1.0325	10|5	0.20046|.	T|.	0.44|.	.|.	1.0251|1.0251	0.01526|0.01526	0.3092:0.1085:0.3596:0.2227|0.3092:0.1085:0.3596:0.2227	.|.	350;385|.	Q8IU60-2;Q8IU60|.	.;DCP2_HUMAN|.	D|W	350;385;174|367	ENSP00000425770:E350D;ENSP00000373715:E385D|.	ENSP00000373715:E385D|.	E|G	+|+	3|1	2|0	DCP2|DCP2	112376972|112376972	0.995000|0.995000	0.38212|0.38212	0.712000|0.712000	0.30502|0.30502	0.230000|0.230000	0.25150|0.25150	0.170000|0.170000	0.16663|0.16663	-0.101000|-0.101000	0.12219|0.12219	-0.267000|-0.267000	0.10333|0.10333	GAG|GGG		0.393	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		6	280	6	280	---	---	---	---
FEM1C	56929	broad.mit.edu	37	5	114860425	114860425	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:114860425C>A	ENST00000274457.3	-	3	1995	c.1434G>T	c.(1432-1434)agG>agT	p.R478S		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	478					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TATTCTTTCCCCTTGGATGCA	0.393																																						ENST00000274457.3																			0				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1432-1434)agG>agT		fem-1 homolog c (C. elegans)							162.0	161.0	161.0					5																	114860425		2202	4300	6502	SO:0001583	missense	56929					cytoplasm		g.chr5:114860425C>A		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.1434G>T	5.37:g.114860425C>A	ENSP00000274457:p.Arg478Ser						p.R478S	NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)	3	1995	-		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	478					B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	37	c.1434G>T	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772713	0.31411	.	.	ENSG00000145780	ENST00000274457	T	0.54866	0.55	5.55	1.12	0.20585	Ankyrin repeat-containing domain (2);	0.115358	0.64402	D	0.000002	T	0.45796	0.1360	L	0.43701	1.375	0.36129	D	0.846019	B	0.27559	0.181	B	0.41571	0.36	T	0.36480	-0.9746	10	0.08179	T	0.78	-23.5892	9.6744	0.40032	0.0:0.5183:0.0:0.4817	.	478	Q96JP0	FEM1C_HUMAN	S	478	ENSP00000274457:R478S	ENSP00000274457:R478S	R	-	3	2	FEM1C	114888324	0.983000	0.35010	0.989000	0.46669	0.998000	0.95712	0.230000	0.17852	0.271000	0.22005	0.655000	0.94253	AGG		0.393	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177		7	469	7	469	---	---	---	---
MEGF10	84466	broad.mit.edu	37	5	126734475	126734475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:126734475C>A	ENST00000274473.6	+	8	1034	c.767C>A	c.(766-768)cCt>cAt	p.P256H	MEGF10_ENST00000508365.1_Missense_Mutation_p.P256H|MEGF10_ENST00000503335.2_Missense_Mutation_p.P256H|MEGF10_ENST00000418761.2_Missense_Mutation_p.P256H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	256	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTTGCCCTTCTGGCTGG	0.522																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(766-768)cCt>cAt		multiple EGF-like-domains 10							255.0	195.0	215.0					5																	126734475		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126734475C>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.767C>A	5.37:g.126734475C>A	ENSP00000274473:p.Pro256His					MEGF10_ENST00000503335.2_Missense_Mutation_p.P256H|MEGF10_ENST00000508365.1_Missense_Mutation_p.P256H|MEGF10_ENST00000418761.2_Missense_Mutation_p.P256H	p.P256H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	8	1034	+		Prostate(80;0.165)	256			EGF-like 4.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.767C>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876586	0.91664	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.75	5.75	0.90469	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.76234	0.3959	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.973;0.993	T	0.80148	-0.1503	10	0.66056	D	0.02	-10.7588	19.9564	0.97221	0.0:1.0:0.0:0.0	.	256;256	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	H	256	ENSP00000423354:P256H;ENSP00000423195:P256H;ENSP00000416284:P256H;ENSP00000274473:P256H	ENSP00000274473:P256H	P	+	2	0	MEGF10	126762374	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	7.751000	0.85126	2.708000	0.92522	0.650000	0.86243	CCT		0.522	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		5	123	5	123	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127670475	127670475	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:127670475C>A	ENST00000508053.1	-	37	5009	c.4035G>T	c.(4033-4035)aaG>aaT	p.K1345N	FBN2_ENST00000508989.1_Missense_Mutation_p.K1312N|FBN2_ENST00000262464.4_Missense_Mutation_p.K1345N|FBN2_ENST00000507835.1_Missense_Mutation_p.K195N			P35556	FBN2_HUMAN	fibrillin 2	1345	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAAGGATCCCTTTGTGTTCT	0.388																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4033-4035)aaG>aaT		fibrillin 2							153.0	136.0	142.0					5																	127670475		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127670475C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4035G>T	5.37:g.127670475C>A	ENSP00000424571:p.Lys1345Asn					FBN2_ENST00000508989.1_Missense_Mutation_p.K1312N|FBN2_ENST00000507835.1_Missense_Mutation_p.K195N|FBN2_ENST00000262464.4_Missense_Mutation_p.K1345N	p.K1345N			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	37	5009	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1345			EGF-like 21; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.4035G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536416	0.65085	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	4.75	0.96	0.19631	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.277569	0.30565	N	0.009356	T	0.81973	0.4936	N	0.10664	0.02	0.33579	D	0.599594	D;D	0.63046	0.987;0.992	P;P	0.62649	0.905;0.883	T	0.82329	-0.0511	10	0.41790	T	0.15	.	8.9078	0.35535	0.0:0.5023:0.0:0.4977	.	1312;1345	D6RJI3;P35556	.;FBN2_HUMAN	N	1345;1345;195;1312	ENSP00000262464:K1345N;ENSP00000424571:K1345N;ENSP00000426839:K195N;ENSP00000425596:K1312N	ENSP00000262464:K1345N	K	-	3	2	FBN2	127698374	0.971000	0.33674	0.998000	0.56505	0.993000	0.82548	0.085000	0.14912	0.057000	0.16193	-0.142000	0.14014	AAG		0.388	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		7	186	7	186	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128994403	128994403	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:128994403G>T	ENST00000274487.4	+	15	2525	c.2380G>T	c.(2380-2382)Ggg>Tgg	p.G794W	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	794	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GATCATTAAAGGGGATTTTAA	0.343																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(2380-2382)Ggg>Tgg		ADAM metallopeptidase with thrombospondin type 1 motif, 19							142.0	143.0	142.0					5																	128994403		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128994403G>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2380G>T	5.37:g.128994403G>T	ENSP00000274487:p.Gly794Trp					CTC-575N7.1_ENST00000503616.1_RNA	p.G794W	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	15	2525	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	794			Spacer.			Missense_Mutation	SNP	ENST00000274487.4	37	c.2380G>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837848	0.71373	.	.	ENSG00000145808	ENST00000274487	T	0.66099	-0.19	3.79	3.79	0.43588	ADAM-TS Spacer 1 (1);	0.000000	0.64402	D	0.000004	D	0.83945	0.5364	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88871	0.3333	9	.	.	.	.	16.9522	0.86248	0.0:0.0:1.0:0.0	.	794	Q8TE59	ATS19_HUMAN	W	794	ENSP00000274487:G794W	.	G	+	1	0	ADAMTS19	129022302	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.453000	0.90349	2.409000	0.81822	0.585000	0.79938	GGG		0.343	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		6	337	6	337	---	---	---	---
GDF9	2661	broad.mit.edu	37	5	132200139	132200139	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:132200139C>A	ENST00000378673.2	-	2	953	c.87G>T	c.(85-87)ggG>ggT	p.G29G	UQCRQ_ENST00000378670.3_5'Flank|GDF9_ENST00000296875.2_Silent_p.G29G|UQCRQ_ENST00000378665.1_5'Flank|UQCRQ_ENST00000378667.1_5'Flank|GDF9_ENST00000464378.1_Intron			O60383	GDF9_HUMAN	growth differentiation factor 9	29					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGCTTCTCCCCCAGAAGCCT	0.517																																						ENST00000378673.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22						c.(85-87)ggG>ggT		growth differentiation factor 9							81.0	87.0	85.0					5																	132200139		2203	4300	6503	SO:0001819	synonymous_variant	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132200139C>A		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.87G>T	5.37:g.132200139C>A						GDF9_ENST00000296875.2_Silent_p.G29G|GDF9_ENST00000464378.1_Intron	p.G29G			O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	953	-		all_cancers(142;0.105)|Breast(839;0.198)	29					Q4VAW5	Silent	SNP	ENST00000378673.2	37	c.87G>T	CCDS4162.1																																																																																				0.517	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	NM_005260		5	149	5	149	---	---	---	---
PKD2L2	27039	broad.mit.edu	37	5	137235236	137235236	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:137235236C>A	ENST00000508883.1	+	5	582	c.556C>A	c.(556-558)Cct>Act	p.P186T	PKD2L2_ENST00000290431.5_Missense_Mutation_p.P186T|PKD2L2_ENST00000508638.1_Missense_Mutation_p.P186T|PKD2L2_ENST00000502810.1_Missense_Mutation_p.P186T|PKD2L2_ENST00000350250.4_Missense_Mutation_p.P152T			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	186					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TACCAACTCCCCTTGGCACTG	0.353																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(556-558)Cct>Act		polycystic kidney disease 2-like 2							123.0	112.0	115.0					5																	137235236		1827	4091	5918	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137235236C>A	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.556C>A	5.37:g.137235236C>A	ENSP00000424725:p.Pro186Thr					PKD2L2_ENST00000350250.4_Missense_Mutation_p.P152T|PKD2L2_ENST00000290431.5_Missense_Mutation_p.P186T|PKD2L2_ENST00000502810.1_Missense_Mutation_p.P186T|PKD2L2_ENST00000508883.1_Missense_Mutation_p.P186T	p.P186T	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		5	611	+			186					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.556C>A		.	.	.	.	.	.	.	.	.	.	C	13.12	2.143541	0.37825	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	5.21	2.37	0.29283	Polycystin cation channel, PKD1/PKD2 (1);	0.592975	0.15932	N	0.237611	T	0.68421	0.2999	L	0.37630	1.12	0.28990	N	0.888093	B;D;D	0.89917	0.082;1.0;1.0	B;D;D	0.77557	0.063;0.99;0.935	T	0.58668	-0.7596	10	0.23302	T	0.38	-10.1075	7.426	0.27098	0.0:0.7025:0.1397:0.1578	.	186;186;186	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	T	96;152;186;186;186;186	ENSP00000424885:P96T;ENSP00000344177:P152T;ENSP00000423382:P186T;ENSP00000425513:P186T;ENSP00000424725:P186T;ENSP00000290431:P186T	ENSP00000290431:P186T	P	+	1	0	PKD2L2	137263135	0.106000	0.21978	0.991000	0.47740	0.963000	0.63663	1.259000	0.32956	0.664000	0.31047	0.650000	0.86243	CCT		0.353	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		6	238	6	238	---	---	---	---
ETF1	2107	broad.mit.edu	37	5	137844470	137844470	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:137844470G>T	ENST00000360541.5	-	10	1340	c.1119C>A	c.(1117-1119)ccC>ccA	p.P373P	ETF1_ENST00000499810.2_Silent_p.P340P|ETF1_ENST00000503014.1_Silent_p.P359P	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	373					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATTCCAACAGGGGCATGCTCT	0.413																																						ENST00000499810.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1018-1020)ccC>ccA		eukaryotic translation termination factor 1							112.0	114.0	113.0					5																	137844470		2203	4300	6503	SO:0001819	synonymous_variant	2107				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific	g.chr5:137844470G>T	AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"""sup45 (yeast omnipotent suppressor 45) homolog-like 1"", ""polypeptide chain release factor 1"""	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.1119C>A	5.37:g.137844470G>T						ETF1_ENST00000360541.5_Silent_p.P373P|ETF1_ENST00000503014.1_Silent_p.P359P	p.P340P	NM_001256302.1|NM_001282185.1	NP_001243231.1|NP_001269114.1	P62495	ERF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		10	1468	-			373					B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Silent	SNP	ENST00000360541.5	37	c.1020C>A	CCDS4207.1																																																																																				0.413	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251276.2	NM_004730		6	288	6	288	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140180997	140180997	+	Missense_Mutation	SNP	G	G	T	rs149543626		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140180997G>T	ENST00000522353.2	+	1	215	c.215G>T	c.(214-216)gGg>gTg	p.G72V	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G72V|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	72	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGACACGGGGACCTTCTG	0.627																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(214-216)gGg>gTg									75.0	89.0	84.0					5																	140180997		2203	4294	6497	SO:0001583	missense	56145							g.chr5:140180997G>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.215G>T	5.37:g.140180997G>T	ENSP00000429808:p.Gly72Val					PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G72V|PCDHA2_ENST00000526136.1_Intron	p.G72V	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	215	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.215G>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	13.13	2.146280	0.37923	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.27104	1.69;1.69	4.32	1.21	0.21127	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.364201	0.19615	U	0.110037	T	0.42337	0.1198	L	0.49778	1.585	0.28825	N	0.89744	D;D	0.58268	0.982;0.978	D;P	0.65443	0.935;0.823	T	0.44003	-0.9356	10	0.51188	T	0.08	.	15.6435	0.77029	0.0:0.5825:0.4175:0.0	.	72;72	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	72	ENSP00000429808:G72V;ENSP00000434086:G72V	ENSP00000429808:G72V	G	+	2	0	PCDHA3	140161181	0.000000	0.05858	0.926000	0.36857	0.772000	0.43724	-0.612000	0.05616	0.011000	0.14865	0.461000	0.40582	GGG		0.627	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		5	186	5	186	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140502609	140502609	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140502609C>A	ENST00000194152.1	+	1	1029	c.1029C>A	c.(1027-1029)ccC>ccA	p.P343P	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	343	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGACAATCCCCCAGAACTTA	0.443																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(1027-1029)ccC>ccA									150.0	161.0	157.0					5																	140502609		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502609C>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1029C>A	5.37:g.140502609C>A							p.P343P	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1029	+			343			Cadherin 3.		Q4V761	Silent	SNP	ENST00000194152.1	37	c.1029C>A	CCDS4246.1																																																																																				0.443	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		8	402	8	402	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140558651	140558651	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140558651C>A	ENST00000239444.2	+	1	1281	c.1036C>A	c.(1036-1038)Cca>Aca	p.P346T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	346	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(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGACCATGCCCCAGAAGTTAC	0.448																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1036-1038)Cca>Aca									227.0	300.0	275.0					5																	140558651		2203	4298	6501	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558651C>A	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1036C>A	5.37:g.140558651C>A	ENSP00000239444:p.Pro346Thr						p.P346T	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1281	+			346			Cadherin 3.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1036C>A	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818504	0.71028	.	.	ENSG00000120322	ENST00000239444	D	0.81499	-1.5	4.25	4.25	0.50352	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.93536	0.7937	H	0.98089	4.145	0.50467	D	0.999874	D	0.89917	1.0	D	0.97110	1.0	D	0.96228	0.9166	9	0.87932	D	0	.	16.2711	0.82622	0.0:1.0:0.0:0.0	.	346	Q9UN66	PCDB8_HUMAN	T	346	ENSP00000239444:P346T	ENSP00000239444:P346T	P	+	1	0	PCDHB8	140538835	1.000000	0.71417	0.854000	0.33618	0.923000	0.55619	6.049000	0.71053	1.911000	0.55334	0.585000	0.79938	CCA		0.448	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		11	792	11	792	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140723735	140723735	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140723735G>T	ENST00000253812.6	+	1	135	c.135G>T	c.(133-135)gtG>gtT	p.V45V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	45	Cadherin 1. {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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCCTTCGTGGGCAACATCG	0.617											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000253812.6																			0				breast(1)	1						c.(133-135)gtG>gtT									98.0	114.0	108.0					5																	140723735		2148	4283	6431	SO:0001819	synonymous_variant	56112							g.chr5:140723735G>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.135G>T	5.37:g.140723735G>T			OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.V45V	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	135	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.135G>T	CCDS47290.1																																																																																				0.617	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		7	329	7	329	---	---	---	---
PCDHGA6	56109	broad.mit.edu	37	5	140755086	140755086	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140755086C>A	ENST00000517434.1	+	1	1436	c.1436C>A	c.(1435-1437)cCt>cAt	p.P479H	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	479	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)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGGACCCTGACGTGGAC	0.582																																						ENST00000517434.1																			0				breast(1)|large_intestine(1)	2						c.(1435-1437)cCt>cAt									130.0	145.0	140.0					5																	140755086		2067	4218	6285	SO:0001583	missense	56109							g.chr5:140755086C>A	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.1436C>A	5.37:g.140755086C>A	ENSP00000429601:p.Pro479His					PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	p.P479H	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1436	+								A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.1436C>A	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	7.804	0.714272	0.15306	.	.	ENSG00000253731	ENST00000517434	T	0.62364	0.03	5.13	4.27	0.50696	Cadherin (4);Cadherin-like (1);	0.301154	0.17001	N	0.190920	T	0.71316	0.3325	M	0.93062	3.375	0.25903	N	0.983339	B;B	0.30973	0.302;0.203	B;B	0.36464	0.225;0.16	T	0.69120	-0.5229	10	0.66056	D	0.02	.	8.8612	0.35258	0.1484:0.7765:0.0:0.075	.	479;479	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	H	479	ENSP00000429601:P479H	ENSP00000429601:P479H	P	+	2	0	PCDHGA6	140735270	0.000000	0.05858	0.317000	0.25265	0.007000	0.05969	1.205000	0.32308	1.532000	0.49169	0.655000	0.94253	CCT		0.582	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919		6	300	6	300	---	---	---	---
PCDHGA8	9708	broad.mit.edu	37	5	140773098	140773098	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:140773098C>A	ENST00000398604.2	+	1	718	c.718C>A	c.(718-720)Ccg>Acg	p.P240T	PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	240	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)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACAATGCCCCGGTTTTTCC	0.582																																						ENST00000398604.2																			0				endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(718-720)Ccg>Acg									74.0	81.0	78.0					5																	140773098		2095	4244	6339	SO:0001583	missense	9708							g.chr5:140773098C>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.718C>A	5.37:g.140773098C>A	ENSP00000381605:p.Pro240Thr					PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	p.P240T	NM_032088.1	NP_114477.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	718	+								A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.718C>A	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	19.19	3.780112	0.70222	.	.	ENSG00000253767	ENST00000398604	D	0.84730	-1.89	5.41	5.41	0.78517	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31177	U	0.008111	D	0.96160	0.8748	H	0.99299	4.505	0.48511	D	0.999664	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.98043	1.0383	10	0.87932	D	0	.	18.8047	0.92032	0.0:1.0:0.0:0.0	.	240;240	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	T	240	ENSP00000381605:P240T	ENSP00000381605:P240T	P	+	1	0	PCDHGA8	140753282	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	5.706000	0.68362	2.552000	0.86080	0.655000	0.94253	CCG		0.582	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088		5	162	5	162	---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145843328	145843328	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:145843328C>A	ENST00000296702.5	+	5	1145	c.1107C>A	c.(1105-1107)ccC>ccA	p.P369P	TCERG1_ENST00000394421.2_Silent_p.P369P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	369	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGTGTTCCCCTTCCTGGCA	0.448																																						ENST00000296702.5																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(1105-1107)ccC>ccA		transcription elongation regulator 1							208.0	185.0	193.0					5																	145843328		2203	4300	6503	SO:0001819	synonymous_variant	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145843328C>A	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1107C>A	5.37:g.145843328C>A						TCERG1_ENST00000394421.2_Silent_p.P369P	p.P369P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1145	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	369			Pro-rich.		Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	c.1107C>A	CCDS4282.1																																																																																				0.448	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		6	372	6	372	---	---	---	---
PPP2R2B	5521	broad.mit.edu	37	5	145969654	145969654	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:145969654C>A	ENST00000394413.3	-	9	1758	c.1188G>T	c.(1186-1188)ggG>ggT	p.G396G	PPP2R2B_ENST00000356826.3_Silent_p.G396G|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000508545.2_Silent_p.G385G|PPP2R2B_ENST00000394410.2_Silent_p.G385G|PPP2R2B_ENST00000504198.1_Silent_p.G402G|PPP2R2B_ENST00000394414.1_Silent_p.G462G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Silent_p.G396G|PPP2R2B_ENST00000453001.1_Silent_p.G396G|PPP2R2B_ENST00000394409.3_Silent_p.G454G|PPP2R2B_ENST00000336640.6_Silent_p.G399G			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	396					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.G454G(1)|p.G399G(1)|p.G396G(1)|p.G385G(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGCTTGCCCCCCACACACA	0.498																																						ENST00000394413.3																			4	Substitution - coding silent(4)	p.G454G(1)|p.G399G(1)|p.G396G(1)|p.G385G(1)	endometrium(4)	endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32						c.(1186-1188)ggG>ggT		protein phosphatase 2, regulatory subunit B, beta							140.0	146.0	144.0					5																	145969654		2203	4300	6503	SO:0001819	synonymous_variant	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969654C>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1188G>T	5.37:g.145969654C>A						PPP2R2B_ENST00000453001.1_Silent_p.G396G|PPP2R2B_ENST00000504198.1_Silent_p.G402G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Silent_p.G385G|PPP2R2B_ENST00000394411.4_Silent_p.G396G|PPP2R2B_ENST00000336640.6_Silent_p.G399G|PPP2R2B_ENST00000394410.2_Silent_p.G385G|PPP2R2B_ENST00000394409.3_Silent_p.G454G|PPP2R2B_ENST00000356826.3_Silent_p.G396G|PPP2R2B_ENST00000394414.1_Silent_p.G462G|CTB-99A3.1_ENST00000512730.1_RNA	p.G396G			Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1758	-			396					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Silent	SNP	ENST00000394413.3	37	c.1188G>T	CCDS4284.1																																																																																				0.498	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		7	374	7	374	---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146795341	146795341	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:146795341G>T	ENST00000398514.3	-	4	780	c.409C>A	c.(409-411)Ctg>Atg	p.L137M	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Missense_Mutation_p.L251M	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	137					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACATGCAGGGCATAGTCA	0.552																																						ENST00000343218.5																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(751-753)Ctg>Atg		dihydropyrimidinase-like 3							254.0	257.0	256.0					5																	146795341		2139	4244	6383	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146795341G>T	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.409C>A	5.37:g.146795341G>T	ENSP00000381526:p.Leu137Met					DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.L137M	p.L251M	NM_001197294.1	NP_001184223.1	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	948	-			137					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.751C>A	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703732	0.68501	.	.	ENSG00000113657	ENST00000398514;ENST00000343218	D;D	0.91180	-2.8;-2.8	5.93	0.829	0.18847	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.145706	0.47093	D	0.000242	D	0.95037	0.8393	M	0.90309	3.105	0.80722	D	1	D;D	0.76494	0.999;0.989	D;D	0.81914	0.995;0.987	D	0.94169	0.7421	10	0.72032	D	0.01	-20.2013	10.422	0.44356	0.45:0.0:0.55:0.0	.	251;137	B3SXQ8;Q14195	.;DPYL3_HUMAN	M	137;251	ENSP00000381526:L137M;ENSP00000343690:L251M	ENSP00000343690:L251M	L	-	1	2	DPYSL3	146775534	0.958000	0.32768	0.995000	0.50966	0.934000	0.57294	1.087000	0.30865	0.416000	0.25844	-0.218000	0.12543	CTG		0.552	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		6	346	6	346	---	---	---	---
ARHGEF37	389337	broad.mit.edu	37	5	149011707	149011707	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149011707G>C	ENST00000333677.6	+	13	2144	c.1981G>C	c.(1981-1983)Gcc>Ccc	p.A661P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	661	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A661P(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGGCTTCTTGGCCAGGGCTCG	0.592																																						ENST00000333677.6																			1	Substitution - Missense(1)	p.A661P(1)	prostate(1)	large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						c.(1981-1983)Gcc>Ccc		Rho guanine nucleotide exchange factor (GEF) 37							83.0	86.0	85.0					5																	149011707		1916	4122	6038	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:149011707G>C	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.1981G>C	5.37:g.149011707G>C	ENSP00000328083:p.Ala661Pro						p.A661P	NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN			13	2144	+			661			SH3 2.		Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.1981G>C	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086268	0.55861	.	.	ENSG00000183111	ENST00000333677	T	0.68765	-0.35	5.44	5.44	0.79542	Src homology-3 domain (3);	0.284902	0.39407	N	0.001378	T	0.74665	0.3746	M	0.87180	2.865	0.36491	D	0.868442	D	0.56521	0.976	P	0.44597	0.454	T	0.82139	-0.0605	10	0.38643	T	0.18	.	18.8438	0.92196	0.0:0.0:1.0:0.0	.	661	A1IGU5	ARH37_HUMAN	P	661	ENSP00000328083:A661P	ENSP00000328083:A661P	A	+	1	0	ARHGEF37	148991900	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	3.841000	0.55850	2.545000	0.85829	0.655000	0.94253	GCC		0.592	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		3	93	3	93	---	---	---	---
CSF1R	1436	broad.mit.edu	37	5	149447876	149447876	+	Missense_Mutation	SNP	G	G	T	rs139203165	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149447876G>T	ENST00000286301.3	-	11	1819	c.1528C>A	c.(1528-1530)Ccg>Acg	p.P510T	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	510					cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AACTCATCCGGGGGATGCGTG	0.597																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(1528-1530)Ccg>Acg		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						101.0	89.0	93.0					5																	149447876		2203	4300	6503	SO:0001583	missense	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149447876G>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1528C>A	5.37:g.149447876G>T	ENSP00000286301:p.Pro510Thr						p.P510T	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		11	1819	-			510					B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	ENST00000286301.3	37	c.1528C>A	CCDS4302.1	.	.	.	.	.	.	.	.	.	.	G	3.878	-0.026443	0.07589	.	.	ENSG00000182578	ENST00000286301;ENST00000394307	T	0.77358	-1.09	3.87	1.04	0.20106	.	1.232220	0.05935	N	0.635917	T	0.64416	0.2596	L	0.41236	1.265	0.09310	N	1	B;B	0.29378	0.243;0.026	B;B	0.30716	0.119;0.021	T	0.45454	-0.9260	10	0.09843	T	0.71	.	2.6159	0.04903	0.1049:0.1851:0.5189:0.191	.	362;510	B4E2Y8;P07333	.;CSF1R_HUMAN	T	510;362	ENSP00000286301:P510T	ENSP00000286301:P510T	P	-	1	0	CSF1R	149428069	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.331000	0.19733	0.209000	0.20645	0.561000	0.74099	CCG		0.597	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		4	83	4	83	---	---	---	---
SLC6A7	6534	broad.mit.edu	37	5	149581948	149581948	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149581948G>T	ENST00000230671.2	+	7	1268	c.897G>T	c.(895-897)ctG>ctT	p.L299L	SLC6A7_ENST00000524041.1_Silent_p.L299L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	299					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TCTATTCCCTGGGTGTGGGCT	0.572																																						ENST00000230671.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16						c.(895-897)ctG>ctT		solute carrier family 6 (neurotransmitter transporter), member 7	L-Proline(DB00172)						113.0	120.0	118.0					5																	149581948		2203	4300	6503	SO:0001819	synonymous_variant	6534					integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity	g.chr5:149581948G>T	S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.897G>T	5.37:g.149581948G>T						SLC6A7_ENST00000524041.1_Silent_p.L299L	p.L299L	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	1268	+		all_hematologic(541;0.224)	299					Q0VG81|Q52LU6	Silent	SNP	ENST00000230671.2	37	c.897G>T	CCDS4305.1																																																																																				0.572	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252325.1	NM_014228		5	175	5	175	---	---	---	---
CD74	972	broad.mit.edu	37	5	149784707	149784707	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149784707C>A	ENST00000009530.7	-	5	479	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W	CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Intron|CD74_ENST00000353334.6_Missense_Mutation_p.G160W			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	160					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAAGCTCCCCTTCAGTGGC	0.547			T	ROS1	NSCLC																																	ENST00000353334.6				Dom	yes		5	5q32	972	T	"""CD74 molecule, major histocompatibility complex, class II invariant chain"""			E	ROS1		NSCLC		0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5						c.(478-480)Ggg>Tgg		CD74 molecule, major histocompatibility complex, class II invariant chain							122.0	123.0	123.0					5																	149784707		1966	4137	6103	SO:0001583	missense	972				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding	g.chr5:149784707C>A		CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"""CD molecules"""	1697	protein-coding gene	gene with protein product	"""HLA-DR-gamma"", ""Ia-associated invariant chain"", ""gamma chain of class II antigens"", ""MHC HLA-DR gamma chain"""	142790	"""CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"""	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.478G>T	5.37:g.149784707C>A	ENSP00000009530:p.Gly160Trp					CD74_ENST00000377795.3_Intron|CD74_ENST00000009530.7_Missense_Mutation_p.G160W|CD74_ENST00000524315.1_Intron	p.G160W	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	657	-		all_hematologic(541;0.224)	160					A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Missense_Mutation	SNP	ENST00000009530.7	37	c.478G>T	CCDS47309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.17|18.17	3.563991|3.563991	0.65651|0.65651	.|.	.|.	ENSG00000019582|ENSG00000019582	ENST00000518797|ENST00000353334;ENST00000009530	.|T	.|0.59906	.|0.23	5.79|5.79	4.74|4.74	0.60224|0.60224	.|MHC class II-associated invariant chain, trimerisation (3);	0.565871|0.565871	0.20093|0.20093	N|N	0.099414|0.099414	T|T	0.72890|0.72890	0.3517|0.3517	M|M	0.72118|0.72118	2.19|2.19	0.27475|0.27475	N|N	0.952768|0.952768	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.999;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.991;0.982;0.999	T|T	0.65796|0.65796	-0.6081|-0.6081	6|10	.|0.72032	.|D	.|0.01	-24.2566|-24.2566	11.4672|11.4672	0.50246|0.50246	0.0:0.8653:0.0:0.1347|0.0:0.8653:0.0:0.1347	.|.	.|160;160;160;72	.|A9YLN4;P04233-2;P04233;B4DUJ2	.|.;.;HG2A_HUMAN;.	V|W	154|160	.|ENSP00000009530:G160W	.|ENSP00000009530:G160W	G|G	-|-	2|1	0|0	CD74|CD74	149764900|149764900	0.250000|0.250000	0.23951|0.23951	1.000000|1.000000	0.80357|0.80357	0.874000|0.874000	0.50279|0.50279	0.893000|0.893000	0.28336|0.28336	2.735000|2.735000	0.93741|0.93741	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.547	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374178.1	NM_004355		5	161	5	161	---	---	---	---
ZNF300	91975	broad.mit.edu	37	5	150276299	150276299	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:150276299C>A	ENST00000274599.5	-	6	922	c.502G>T	c.(502-504)Ggg>Tgg	p.G168W	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000446148.2_Missense_Mutation_p.G184W|ZNF300_ENST00000394226.2_Missense_Mutation_p.G168W|ZNF300_ENST00000418587.2_Missense_Mutation_p.G132W	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATATTTTCCCCAGTGGATTA	0.348																																						ENST00000446148.2																			0				endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27						c.(550-552)Ggg>Tgg		zinc finger protein 300							96.0	97.0	97.0					5																	150276299		2203	4300	6503	SO:0001583	missense	91975				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:150276299C>A	AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.502G>T	5.37:g.150276299C>A	ENSP00000274599:p.Gly168Trp					ZNF300_ENST00000418587.2_Missense_Mutation_p.G132W|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.G168W|ZNF300_ENST00000394226.2_Missense_Mutation_p.G168W	p.G184W	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	977	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	168					A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Missense_Mutation	SNP	ENST00000274599.5	37	c.550G>T	CCDS4311.2	.	.	.	.	.	.	.	.	.	.	C	6.503	0.461043	0.12342	.	.	ENSG00000145908	ENST00000446148;ENST00000274599;ENST00000418587;ENST00000394226	T;T;T;T	0.09630	3.04;3.05;2.96;3.04	2.53	1.65	0.23941	.	.	.	.	.	T	0.15132	0.0365	L	0.45352	1.415	0.09310	N	1	D	0.56287	0.975	P	0.55713	0.782	T	0.14755	-1.0461	9	0.87932	D	0	.	3.2207	0.06715	0.2581:0.5953:0.0:0.1466	.	168	Q96RE9	ZN300_HUMAN	W	184;168;132;168	ENSP00000397178:G184W;ENSP00000274599:G168W;ENSP00000392593:G132W;ENSP00000377773:G168W	ENSP00000274599:G168W	G	-	1	0	ZNF300	150256492	0.000000	0.05858	0.016000	0.15963	0.034000	0.12701	-0.229000	0.09098	0.627000	0.30340	0.557000	0.71058	GGG		0.348	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_052860		8	305	8	305	---	---	---	---
G3BP1	10146	broad.mit.edu	37	5	151166205	151166205	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:151166205C>A	ENST00000394123.3	+	2	169	c.24C>A	c.(22-24)ccC>ccA	p.P8P	G3BP1_ENST00000356245.3_Silent_p.P8P|G3BP1_ENST00000543466.1_De_novo_Start_InFrame			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	8					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGCCTAGTCCCCTGCTGGTCG	0.478																																						ENST00000543466.1																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29								GTPase activating protein (SH3 domain) binding protein 1							140.0	138.0	139.0					5																	151166205		2203	4300	6503	SO:0001819	synonymous_variant	10146				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	g.chr5:151166205C>A	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.24C>A	5.37:g.151166205C>A						G3BP1_ENST00000394123.3_Silent_p.P8P|G3BP1_ENST00000356245.3_Silent_p.P8P				Q13283	G3BP1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		0	186	+		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)						Q5HYE9	Translation_Start_Site	SNP	ENST00000394123.3	37		CCDS4319.1																																																																																				0.478	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252431.1	NM_005754		7	244	7	244	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160114833	160114833	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:160114833G>T	ENST00000327245.5	-	5	1095	c.249C>A	c.(247-249)ccC>ccA	p.P83P	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	83					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGATTCCGGGGCAGGAAGG	0.458																																						ENST00000327245.5																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75						c.(247-249)ccC>ccA		ATPase, class V, type 10B							183.0	187.0	186.0					5																	160114833		1929	4127	6056	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160114833G>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.249C>A	5.37:g.160114833G>T						CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	p.P83P	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	1095	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	83					Q9H725	Silent	SNP	ENST00000327245.5	37	c.249C>A	CCDS43394.1																																																																																				0.458	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		6	252	6	252	---	---	---	---
GABRB2	2561	broad.mit.edu	37	5	160758068	160758068	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:160758068G>T	ENST00000393959.1	-	8	898	c.899C>A	c.(898-900)cCc>cAc	p.P300H	GABRB2_ENST00000520240.1_Missense_Mutation_p.P300H|GABRB2_ENST00000353437.6_Missense_Mutation_p.P300H|GABRB2_ENST00000274547.2_Missense_Mutation_p.P300H|GABRB2_ENST00000517547.1_Missense_Mutation_p.P140H|GABRB2_ENST00000517901.1_Missense_Mutation_p.P237H			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	300	Allosteric effector binding. {ECO:0000250}.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTTCACATAGGGGATTTTAGG	0.448																																						ENST00000274547.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(898-900)cCc>cAc		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						163.0	169.0	167.0					5																	160758068		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160758068G>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.899C>A	5.37:g.160758068G>T	ENSP00000377531:p.Pro300His					GABRB2_ENST00000517901.1_Missense_Mutation_p.P237H|GABRB2_ENST00000393959.1_Missense_Mutation_p.P300H|GABRB2_ENST00000353437.6_Missense_Mutation_p.P300H|GABRB2_ENST00000517547.1_Missense_Mutation_p.P140H|GABRB2_ENST00000520240.1_Missense_Mutation_p.P300H	p.P300H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1116	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	300					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.899C>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722496	0.89298	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.26	5.26	0.73747	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.109197	0.64402	D	0.000006	D	0.91012	0.7173	L	0.55834	1.745	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.996;0.996;0.997	D	0.91812	0.5460	10	0.87932	D	0	.	18.8686	0.92303	0.0:0.0:1.0:0.0	.	140;237;300;300	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	H	300;300;300;300;237;140	ENSP00000377531:P300H;ENSP00000274547:P300H;ENSP00000274546:P300H;ENSP00000429320:P300H;ENSP00000430532:P237H;ENSP00000429750:P140H	ENSP00000274547:P300H	P	-	2	0	GABRB2	160690646	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.751000	0.98889	2.451000	0.82905	0.563000	0.77884	CCC		0.448	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1			7	337	7	337	---	---	---	---
STK10	6793	broad.mit.edu	37	5	171471911	171471911	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:171471911G>T	ENST00000176763.5	-	19	3225	c.2882C>A	c.(2881-2883)cCc>cAc	p.P961H		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	961					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAACTGTAGGGGAAGAACTT	0.587																																						ENST00000176763.5																			0				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(2881-2883)cCc>cAc		serine/threonine kinase 10							81.0	78.0	79.0					5																	171471911		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171471911G>T	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2882C>A	5.37:g.171471911G>T	ENSP00000176763:p.Pro961His						p.P961H	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		19	3225	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	961					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.2882C>A	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409112	0.83340	.	.	ENSG00000072786	ENST00000176763;ENST00000520476;ENST00000545839	T;T	0.69926	-0.44;1.16	4.42	4.42	0.53409	.	0.311790	0.29722	N	0.011377	T	0.76688	0.4022	L	0.49350	1.555	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.79593	-0.1739	10	0.87932	D	0	.	14.5394	0.67982	0.0:0.0:1.0:0.0	.	961	O94804	STK10_HUMAN	H	961;252;961	ENSP00000176763:P961H;ENSP00000428806:P252H	ENSP00000176763:P961H	P	-	2	0	STK10	171404516	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.652000	0.74377	1.993000	0.58246	0.655000	0.94253	CCC		0.587	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		5	136	5	136	---	---	---	---
HK3	3101	broad.mit.edu	37	5	176309037	176309037	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:176309037C>A	ENST00000292432.5	-	16	2236	c.2145G>T	c.(2143-2145)tgG>tgT	p.W715C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	715	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAAGGCGCCCCACTCCATGT	0.632																																						ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2143-2145)tgG>tgT		hexokinase 3 (white cell)							78.0	76.0	77.0					5																	176309037		2203	4300	6503	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176309037C>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2145G>T	5.37:g.176309037C>A	ENSP00000292432:p.Trp715Cys						p.W715C	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2236	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	715			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.2145G>T	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418195	0.83449	.	.	ENSG00000160883	ENST00000292432;ENST00000514058	D;D	0.97665	-4.48;-4.48	5.06	5.06	0.68205	Hexokinase, C-terminal (1);	0.000000	0.49916	D	0.000126	D	0.98931	0.9637	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99399	1.0927	10	0.87932	D	0	-20.1424	18.5845	0.91183	0.0:1.0:0.0:0.0	.	715	P52790	HXK3_HUMAN	C	715;105	ENSP00000292432:W715C;ENSP00000424632:W105C	ENSP00000292432:W715C	W	-	3	0	HK3	176241643	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.651000	0.83577	2.782000	0.95742	0.655000	0.94253	TGG		0.632	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			5	133	5	133	---	---	---	---
UIMC1	51720	broad.mit.edu	37	5	176332480	176332480	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:176332480C>A	ENST00000377227.4	-	15	2095	c.1963G>T	c.(1963-1965)Ggg>Tgg	p.G655W	UIMC1_ENST00000506128.1_Missense_Mutation_p.G489W|UIMC1_ENST00000377219.2_Missense_Mutation_p.G656W|UIMC1_ENST00000511320.1_Missense_Mutation_p.G655W			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	655					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)			TCTTCCATCCCTGGTGAAGGC	0.433																																						ENST00000377219.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(1966-1968)Ggg>Tgg		ubiquitin interaction motif containing 1							67.0	69.0	68.0					5																	176332480		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.chr5:176332480C>A	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.1963G>T	5.37:g.176332480C>A	ENSP00000366434:p.Gly655Trp					UIMC1_ENST00000511320.1_Missense_Mutation_p.G655W|UIMC1_ENST00000377227.4_Missense_Mutation_p.G655W|UIMC1_ENST00000506128.1_Missense_Mutation_p.G489W	p.G656W	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	2132	-	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)	655					A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	c.1966G>T	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413715	0.42817	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000323774	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.58	1.79	0.24919	.	1.305070	0.04968	N	0.463265	T	0.23727	0.0574	L	0.43152	1.355	0.09310	N	1	D;D;D	0.58970	0.973;0.984;0.973	P;P;P	0.59115	0.513;0.852;0.792	T	0.11179	-1.0598	10	0.72032	D	0.01	.	4.0756	0.09902	0.0:0.4416:0.167:0.3914	.	655;285;577	Q96RL1;Q96RL1-4;Q96RL1-3	UIMC1_HUMAN;.;.	W	655;656;655;489;578;286	ENSP00000366434:G655W;ENSP00000366425:G656W;ENSP00000421926:G655W;ENSP00000427480:G489W	ENSP00000314909:G286W	G	-	1	0	UIMC1	176265086	0.009000	0.17119	0.000000	0.03702	0.048000	0.14542	0.164000	0.16542	0.298000	0.22638	-0.140000	0.14226	GGG		0.433	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		4	85	4	85	---	---	---	---
COL23A1	91522	broad.mit.edu	37	5	177715351	177715351	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:177715351C>A	ENST00000390654.3	-	5	772	c.415G>T	c.(415-417)Ggg>Tgg	p.G139W	COL23A1_ENST00000407622.1_Intron	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	139	Collagen-like 1.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCTGATTGCCCCTGTGGTAAT	0.443																																						ENST00000390654.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(415-417)Ggg>Tgg		collagen, type XXIII, alpha 1							137.0	135.0	136.0					5																	177715351		1872	4116	5988	SO:0001630	splice_region_variant	91522					collagen|integral to membrane|plasma membrane	protein binding	g.chr5:177715351C>A	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.415-1G>T	5.37:g.177715351C>A						COL23A1_ENST00000407622.1_Intron	p.G139W	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)	5	772	-	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	139			Collagen-like 1.|Gly-rich.		Q8IVR4|Q9NT93	Splice_Site	SNP	ENST00000390654.3	37	c.415G>T	CCDS4436.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837375	0.32513	.	.	ENSG00000050767	ENST00000390654	D	0.99369	-5.78	5.59	5.59	0.84812	.	0.215290	0.26832	N	0.022261	D	0.99677	0.9879	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97512	1.0067	10	0.87932	D	0	-9.2816	15.0845	0.72142	0.0:1.0:0.0:0.0	.	139	Q86Y22	CONA1_HUMAN	W	139	ENSP00000375069:G139W	ENSP00000375069:G139W	G	-	1	0	COL23A1	177647957	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.860000	0.55995	2.619000	0.88677	0.655000	0.94253	GGG		0.443	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253475.1	NM_173465	Missense_Mutation	6	213	6	213	---	---	---	---
MAML1	9794	broad.mit.edu	37	5	179193269	179193269	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:179193269C>A	ENST00000292599.3	+	2	1521	c.1258C>A	c.(1258-1260)Ccg>Acg	p.P420T	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGGCCACCCCGGCACCAGC	0.657																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1258-1260)Ccg>Acg		mastermind-like 1 (Drosophila)							61.0	75.0	70.0					5																	179193269		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193269C>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1258C>A	5.37:g.179193269C>A	ENSP00000292599:p.Pro420Thr					MAML1_ENST00000503050.1_3'UTR	p.P420T	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1521	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	420						Missense_Mutation	SNP	ENST00000292599.3	37	c.1258C>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	1.250	-0.618842	0.03663	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.22945	1.93	4.88	2.09	0.27110	.	0.769658	0.12099	N	0.499679	T	0.18759	0.0450	L	0.36672	1.1	0.09310	N	1	P;B	0.43094	0.799;0.411	B;B	0.41691	0.364;0.047	T	0.11665	-1.0578	10	0.29301	T	0.29	-0.2954	5.2299	0.15416	0.1499:0.6279:0.1443:0.0779	.	457;420	Q59GH4;Q92585	.;MAML1_HUMAN	T	420;457	ENSP00000292599:P420T	ENSP00000292599:P420T	P	+	1	0	MAML1	179125875	0.001000	0.12720	0.011000	0.14972	0.419000	0.31324	0.276000	0.18716	0.122000	0.18314	-0.680000	0.03767	CCG		0.657	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		5	170	5	170	---	---	---	---
MAPK9	5601	broad.mit.edu	37	5	179676014	179676014	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:179676014C>A	ENST00000452135.2	-	6	873	c.575G>T	c.(574-576)cGg>cTg	p.R192L	MAPK9_ENST00000347470.4_Missense_Mutation_p.R192L|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.R192L|MAPK9_ENST00000343111.6_Missense_Mutation_p.R192L|MAPK9_ENST00000393360.3_Missense_Mutation_p.R192L|MAPK9_ENST00000425491.2_Missense_Mutation_p.R192L|MAPK9_ENST00000539014.1_Missense_Mutation_p.R192L|MAPK9_ENST00000397072.3_3'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)	p.R192L(4)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCGGGCGCCCGGTAGTACCG	0.552																																						ENST00000452135.2																			4	Substitution - Missense(4)	p.R192L(4)	lung(4)	central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(574-576)cGg>cTg		mitogen-activated protein kinase 9							218.0	230.0	226.0					5																	179676014		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|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	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding	g.chr5:179676014C>A	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.575G>T	5.37:g.179676014C>A	ENSP00000394560:p.Arg192Leu					MAPK9_ENST00000343111.6_Missense_Mutation_p.R192L|MAPK9_ENST00000539014.1_Missense_Mutation_p.R192L|MAPK9_ENST00000347470.4_Missense_Mutation_p.R192L|MAPK9_ENST00000393360.3_Missense_Mutation_p.R192L|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.R192L|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.R192L	p.R192L			P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	873	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	192			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.575G>T	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459528	0.84317	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.59	4.73	0.59995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.070647	0.56097	N	0.000024	D	0.85544	0.5721	L	0.58669	1.825	0.80722	D	1	B;B;P;B;P	0.48230	0.253;0.116;0.536;0.154;0.907	B;B;B;B;P	0.51385	0.155;0.119;0.168;0.11;0.668	D	0.87005	0.2119	10	0.87932	D	0	-8.9828	14.4306	0.67246	0.0:0.9295:0.0:0.0705	.	192;192;192;192;192	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	L	192	ENSP00000394560:R192L;ENSP00000377028:R192L;ENSP00000389338:R192L;ENSP00000345524:R192L;ENSP00000321410:R192L;ENSP00000397422:R192L;ENSP00000443149:R192L	ENSP00000345524:R192L	R	-	2	0	MAPK9	179608620	1.000000	0.71417	0.977000	0.42913	0.498000	0.33706	7.711000	0.84669	1.376000	0.46267	0.650000	0.86243	CGG		0.552	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			6	515	6	515	---	---	---	---
TRIM52	84851	broad.mit.edu	37	5	180687287	180687287	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:180687287G>T	ENST00000327767.4	-	1	832	c.528C>A	c.(526-528)ccC>ccA	p.P176P	TRIM52-AS1_ENST00000507434.1_RNA|TRIM52_ENST00000514805.1_5'UTR|TRIM52-AS1_ENST00000509252.1_RNA|CTC-338M12.4_ENST00000417281.2_RNA|CTC-338M12.4_ENST00000511331.1_RNA|CTC-338M12.4_ENST00000505151.1_RNA|TRIM52-AS1_ENST00000514146.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	176					positive regulation of NF-kappaB transcription factor activity (GO:0051092)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GCCCTGGAAGGGGCAAGGAAG	0.527																																						ENST00000327767.4																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						c.(526-528)ccC>ccA		tripartite motif containing 52							139.0	117.0	124.0					5																	180687287		2203	4300	6503	SO:0001819	synonymous_variant	84851					intracellular	zinc ion binding	g.chr5:180687287G>T		CCDS4467.1	5q35.3	2013-01-09	2011-01-25		ENSG00000183718	ENSG00000183718		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19024	protein-coding gene	gene with protein product			"""tripartite motif-containing 52"""				Standard	NM_032765		Approved	RNF102	uc003mnp.3	Q96A61	OTTHUMG00000130964	ENST00000327767.4:c.528C>A	5.37:g.180687287G>T						CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR	p.P176P	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)	1	832	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	176						Silent	SNP	ENST00000327767.4	37	c.528C>A	CCDS4467.1																																																																																				0.527	TRIM52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253572.3	NM_032765		8	259	8	259	---	---	---	---
TFAP2A	7020	broad.mit.edu	37	6	10400801	10400801	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:10400801C>A	ENST00000482890.1	-	7	1257	c.905G>T	c.(904-906)aGg>aTg	p.R302M	TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379613.3_Missense_Mutation_p.R304M|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R302M|TFAP2A_ENST00000379608.3_Missense_Mutation_p.R296M|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R298M			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	302	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|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 (GO:0000982)|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 proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CCCAAAGTCCCTGGCTAGGTG	0.527																																						ENST00000379613.3																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(910-912)aGg>aTg		transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)							104.0	94.0	97.0					6																	10400801		2203	4300	6503	SO:0001583	missense	7020				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr6:10400801C>A	X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.905G>T	6.37:g.10400801C>A	ENSP00000418541:p.Arg302Met					TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Missense_Mutation_p.R296M|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R302M|TFAP2A_ENST00000482890.1_Missense_Mutation_p.R302M|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R298M	p.R304M			P05549	AP2A_HUMAN			6	1167	-	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)	302			H-S-H (helix-span-helix), dimerization.		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	ENST00000482890.1	37	c.911G>T	CCDS4510.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627158	0.87560	.	.	ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890	D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42	5.29	5.29	0.74685	Transcription factor AP-2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98785	0.9591	M	0.91038	3.17	0.80722	D	1	D;D;D	0.89917	0.989;0.995;1.0	P;D;D	0.76071	0.832;0.934;0.987	D	0.99777	1.1026	10	0.87932	D	0	-8.466	18.9454	0.92620	0.0:1.0:0.0:0.0	.	298;302;296	Q5TAV5;P05549;Q8N1C6	.;AP2A_HUMAN;.	M	304;302;298;296;302	ENSP00000368933:R304M;ENSP00000368924:R302M;ENSP00000316516:R298M;ENSP00000368928:R296M;ENSP00000418541:R302M	ENSP00000316516:R298M	R	-	2	0	TFAP2A	10508787	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.463000	0.83235	0.655000	0.94253	AGG		0.527	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353619.2	NM_003220		5	140	5	140	---	---	---	---
ERVFRD-1	405754	broad.mit.edu	37	6	11105026	11105026	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:11105026G>T	ENST00000472091.1	-	2	893	c.518C>A	c.(517-519)cCc>cAc	p.P173H	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.P173H	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	173					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						TGGAGGTTTGGGGAATCTTGG	0.443																																						ENST00000472091.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						c.(517-519)cCc>cAc									157.0	171.0	166.0					6																	11105026		2203	4300	6503	SO:0001583	missense	405754					integral to membrane|plasma membrane|virion		g.chr6:11105026G>T	AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.518C>A	6.37:g.11105026G>T	ENSP00000420174:p.Pro173His					ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.P173H|SMIM13_ENST00000416247.2_Intron	p.P173H	NM_207582.2	NP_997465.1	P60508	EFRD1_HUMAN			2	893	-			173						Missense_Mutation	SNP	ENST00000472091.1	37	c.518C>A	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868544	0.51588	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.14266	2.52;2.52	0.235	0.235	0.15431	.	.	.	.	.	T	0.02342	0.0072	N	0.14661	0.345	0.21290	N	0.999735	B	0.14438	0.01	B	0.15484	0.013	T	0.45279	-0.9272	8	0.66056	D	0.02	.	.	.	.	.	173	P60508	EFRD1_HUMAN	H	173	ENSP00000420174:P173H;ENSP00000444461:P173H	ENSP00000420174:P173H	P	-	2	0	ERVFRD-1	11213012	0.697000	0.27767	0.858000	0.33744	0.860000	0.49131	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	CCC		0.443	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		9	662	9	662	---	---	---	---
TBC1D7	51256	broad.mit.edu	37	6	13316809	13316809	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:13316809G>T	ENST00000379300.3	-	5	756	c.513C>A	c.(511-513)ccC>ccA	p.P171P	TBC1D7_ENST00000379307.2_Silent_p.P144P|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000607658.1_Silent_p.P144P|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000356436.4_Silent_p.P171P	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	171	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			TCACCAACTGGGGCAAGGAAT	0.478																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(430-432)ccC>ccA		TBC1 domain family, member 7																																				SO:0001819	synonymous_variant	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13316809G>T	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.513C>A	6.37:g.13316809G>T						TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000379307.2_Silent_p.P144P|TBC1D7_ENST00000379300.3_Silent_p.P171P|TBC1D7_ENST00000356436.4_Silent_p.P171P|TBC1D7_ENST00000607532.1_5'UTR	p.P144P			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		4	582	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	171			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Silent	SNP	ENST00000379300.3	37	c.432C>A	CCDS4523.1																																																																																				0.478	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		7	256	7	256	---	---	---	---
BTN2A1	11120	broad.mit.edu	37	6	26465542	26465542	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:26465542G>T	ENST00000312541.5	+	5	1090	c.842G>T	c.(841-843)gGg>gTg	p.G281V	BTN2A1_ENST00000469185.1_Missense_Mutation_p.G281V|BTN2A1_ENST00000541522.1_Missense_Mutation_p.G220V|BTN2A1_ENST00000429381.1_Missense_Mutation_p.G281V	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	281					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						ATTCTGTCAGGGGAAAAGGAG	0.403																																						ENST00000429381.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						c.(841-843)gGg>gTg		butyrophilin, subfamily 2, member A1							125.0	127.0	126.0					6																	26465542		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26465542G>T	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.842G>T	6.37:g.26465542G>T	ENSP00000312158:p.Gly281Val					BTN2A1_ENST00000469185.1_Missense_Mutation_p.G281V|BTN2A1_ENST00000312541.5_Missense_Mutation_p.G281V|BTN2A1_ENST00000541522.1_Missense_Mutation_p.G220V	p.G281V			Q7KYR7	BT2A1_HUMAN			5	1054	+			281					B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.842G>T	CCDS4613.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.632|6.632	0.485067|0.485067	0.12641|0.12641	.|.	.|.	ENSG00000112763|ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185|ENST00000480218	T;T;T;T|.	0.76578|.	-0.44;1.14;-1.03;-1.03|.	3.78|3.78	-7.49|-7.49	0.01355|0.01355	.|.	1.922150|1.922150	0.03008|0.03008	N|N	0.149080|0.149080	T|T	0.30293|0.30293	0.0760|0.0760	M|M	0.68317|0.68317	2.08|2.08	0.09310|0.09310	N|N	1|1	B;B;B|.	0.21071|.	0.001;0.051;0.003|.	B;B;B|.	0.16722|.	0.005;0.016;0.003|.	T|T	0.52668|0.52668	-0.8545|-0.8545	10|7	0.16896|0.72032	T|D	0.51|0.01	.|.	6.2491|6.2491	0.20835|0.20835	0.0:0.2736:0.1707:0.5557|0.0:0.2736:0.1707:0.5557	.|.	220;281;281|.	B4DLP9;Q96AV7;Q7KYR7|.	.;.;BT2A1_HUMAN|.	V|W	281;220;281;267;281|30	ENSP00000312158:G281V;ENSP00000443909:G220V;ENSP00000416945:G281V;ENSP00000419043:G281V|.	ENSP00000265424:G267V|ENSP00000418936:G30W	G|G	+|+	2|1	0|0	BTN2A1|BTN2A1	26573521|26573521	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.815000|-0.815000	0.04481|0.04481	-1.045000|-1.045000	0.03250|0.03250	0.455000|0.455000	0.32223|0.32223	GGG|GGG		0.403	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		6	215	6	215	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29454728	29454728	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:29454728C>A	ENST00000377127.3	-	1	1010	c.952G>T	c.(952-954)Ggg>Tgg	p.G318W		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	318					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CTGAGGCTCCCCACAAAGAAA	0.443																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(952-954)Ggg>Tgg		MAS1 oncogene-like							74.0	81.0	79.0					6																	29454728		2203	4300	6503	SO:0001583	missense	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454728C>A	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.952G>T	6.37:g.29454728C>A	ENSP00000366331:p.Gly318Trp						p.G318W	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	1010	-			318					Q5SUN5	Missense_Mutation	SNP	ENST00000377127.3	37	c.952G>T	CCDS4661.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605544	0.28623	.	.	ENSG00000204687	ENST00000377127	T	0.38722	1.12	2.36	1.43	0.22495	.	.	.	.	.	T	0.45458	0.1343	M	0.70108	2.13	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.21621	-1.0240	9	0.87932	D	0	.	8.0457	0.30547	0.2445:0.7554:0.0:0.0	.	318	P35410	MAS1L_HUMAN	W	318	ENSP00000366331:G318W	ENSP00000366331:G318W	G	-	1	0	MAS1L	29562707	0.053000	0.20554	0.001000	0.08648	0.001000	0.01503	1.467000	0.35321	0.332000	0.23536	-0.269000	0.10298	GGG		0.443	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		6	271	6	271	---	---	---	---
HLA-F	3134	broad.mit.edu	37	6	29694719	29694719	+	IGR	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:29694719G>T	ENST00000376861.1	+	0	1544				HLA-F_ENST00000440587.2_Missense_Mutation_p.G237W|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366W|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|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)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ATTTCTCCTGGGGGTGCTCTT	0.493																																						ENST00000440587.2																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(709-711)Ggg>Tgg		major histocompatibility complex, class I, F							121.0	140.0	133.0					6																	29694719		1426	2661	4087	SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|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.chr6:29694719G>T	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694719G>T						HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366W	p.G237W			P30511	HLAF_HUMAN			6	1068	+			0			Alpha-3.|Ig-like C1-type.		Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	ENST00000376861.1	37	c.709G>T	CCDS43438.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.859|8.859	0.946369|0.946369	0.18356|0.18356	.|.	.|.	ENSG00000204642|ENSG00000204642	ENST00000449921;ENST00000259951;ENST00000399258;ENST00000440587|ENST00000444621	T;T|.	0.01076|.	5.37;5.52|.	0.62|0.62	-0.357|-0.357	0.12579|0.12579	.|.	.|.	.|.	.|.	.|.	T|T	0.14184|0.14184	0.0343|0.0343	L|L	0.36672|0.36672	1.1|1.1	0.26451|0.26451	N|N	0.975615|0.975615	D;P|.	0.71674|.	0.998;0.923|.	D;B|.	0.69654|.	0.965;0.347|.	T|T	0.31251|0.31251	-0.9950|-0.9950	9|5	0.87932|.	D|.	0|.	.|.	6.1676|6.1676	0.20398|0.20398	0.0:0.3213:0.6787:0.0|0.0:0.3213:0.6787:0.0	.|.	366;366|.	A8MVU7;P30511-3|.	.;.|.	W|C	343;366;280;237|47	ENSP00000259951:G366W;ENSP00000404130:G237W|.	ENSP00000259951:G366W|.	G|W	+|+	1|3	0|0	HLA-F|HLA-F	29802698|29802698	1.000000|1.000000	0.71417|0.71417	0.443000|0.443000	0.26883|0.26883	0.036000|0.036000	0.12997|0.12997	3.721000|3.721000	0.54941|0.54941	-0.214000|-0.214000	0.10078|0.10078	-0.465000|-0.465000	0.05216|0.05216	GGG|TGG		0.493	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1	NM_018950		6	285	6	285	---	---	---	---
TRIM10	10107	broad.mit.edu	37	6	30128473	30128473	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:30128473G>T	ENST00000449742.2	-	1	238	c.163C>A	c.(163-165)Cct>Act	p.P55T	TRIM15_ENST00000376688.1_5'Flank|TRIM10_ENST00000376704.3_Missense_Mutation_p.P55T|TRIM15_ENST00000376694.4_5'Flank	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	55					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						GGGCAAGTAGGGGACTCCTCC	0.617																																						ENST00000449742.2																			0				ovary(1)	1						c.(163-165)Cct>Act		tripartite motif containing 10							150.0	158.0	155.0					6																	30128473		2203	4300	6503	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30128473G>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.163C>A	6.37:g.30128473G>T	ENSP00000397073:p.Pro55Thr					TRIM10_ENST00000376704.3_Missense_Mutation_p.P55T	p.P55T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			1	238	-			55					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.163C>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606460	0.28623	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.07216	3.21;3.21	5.26	4.39	0.52855	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.288557	0.24907	N	0.034642	T	0.02571	0.0078	N	0.16790	0.44	0.09310	N	1	P;P	0.43938	0.822;0.634	P;B	0.46389	0.515;0.367	T	0.44544	-0.9321	10	0.23302	T	0.38	.	10.114	0.42579	0.0932:0.0:0.9068:0.0	.	55;55	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	T	55	ENSP00000397073:P55T;ENSP00000365894:P55T	ENSP00000365894:P55T	P	-	1	0	TRIM10	30236452	0.000000	0.05858	0.003000	0.11579	0.071000	0.16799	0.502000	0.22594	1.369000	0.46134	0.549000	0.68633	CCT		0.617	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			9	318	9	318	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30670419	30670419	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:30670419G>T	ENST00000376406.3	-	14	6660	c.6013C>A	c.(6013-6015)Cct>Act	p.P2005T	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2005	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGGACTCCAGGGGTCACATAG	0.493								Other conserved DNA damage response genes																														ENST00000376406.3																			0				breast(2)|kidney(1)|ovary(1)	4						c.(6013-6015)Cct>Act	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							134.0	129.0	131.0					6																	30670419		1510	2709	4219	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30670419G>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.6013C>A	6.37:g.30670419G>T	ENSP00000365588:p.Pro2005Thr					MDC1_ENST00000376405.2_Missense_Mutation_p.P1741T	p.P2005T	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN			14	6660	-			2005			BRCT 2.|Required for nuclear localization (NLS2).		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.6013C>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892431	0.72524	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	D;D	0.89746	-2.56;-2.56	5.88	4.97	0.65823	BRCT (2);	0.000000	0.35555	N	0.003121	D	0.93314	0.7869	M	0.80183	2.485	0.39444	D	0.967295	D;D	0.89917	0.977;1.0	P;D	0.75020	0.848;0.985	D	0.93624	0.6950	10	0.72032	D	0.01	-13.8612	14.2819	0.66219	0.0:0.1498:0.8502:0.0	.	2005;982	Q14676;Q14676-4	MDC1_HUMAN;.	T	2005;1741;1718;1571	ENSP00000365588:P2005T;ENSP00000365587:P1741T	ENSP00000365587:P1741T	P	-	1	0	MDC1	30778398	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.035000	0.49759	2.800000	0.96347	0.650000	0.86243	CCT		0.493	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		6	188	6	188	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31927105	31927105	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:31927105C>A	ENST00000375394.2	+	2	167	c.54C>A	c.(52-54)ccC>ccA	p.P18P	SKIV2L_ENST00000544581.1_5'UTR|MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000375429.3_5'Flank|SKIV2L_ENST00000488648.1_3'UTR|NELFE_ENST00000375425.5_5'Flank|NELFE_ENST00000444811.2_5'Flank	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	18					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGGACCTACCCCTTCGGGCCG	0.567																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(52-54)ccC>ccA		superkiller viralicidic activity 2-like (S. cerevisiae)							269.0	310.0	295.0					6																	31927105		1511	2709	4220	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31927105C>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.54C>A	6.37:g.31927105C>A						SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR	p.P18P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			2	167	+			18					O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.54C>A	CCDS4731.1																																																																																				0.567	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			8	577	8	577	---	---	---	---
SKIV2L	6499	broad.mit.edu	37	6	31930234	31930234	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:31930234C>A	ENST00000375394.2	+	11	1196	c.1083C>A	c.(1081-1083)ccC>ccA	p.P361P	SKIV2L_ENST00000544581.1_Silent_p.P168P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	361	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						ACACTTCGCCCATCAAGGCCC	0.597																																						ENST00000375394.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						c.(1081-1083)ccC>ccA		superkiller viralicidic activity 2-like (S. cerevisiae)							89.0	79.0	82.0					6																	31930234		2203	4300	6503	SO:0001819	synonymous_variant	6499					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr6:31930234C>A		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1083C>A	6.37:g.31930234C>A						SKIV2L_ENST00000544581.1_Silent_p.P168P	p.P361P	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN			11	1196	+			361			Helicase ATP-binding.		O15005|Q12902|Q15476|Q5ST66	Silent	SNP	ENST00000375394.2	37	c.1083C>A	CCDS4731.1																																																																																				0.597	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076264.3			5	125	5	125	---	---	---	---
HLA-DMB	3109	broad.mit.edu	37	6	32905075	32905075	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:32905075C>A	ENST00000418107.2	-	3	758	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	AL645941.1_ENST00000390777.1_RNA|HLA-DMB_ENST00000416244.2_Missense_Mutation_p.A166S	NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	166	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|MHC class II protein complex assembly (GO:0002399)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001190)|positive regulation of T cell proliferation (GO:0042102)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)	p.A166S(4)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGGGCTGGGCAGTCTTGTGC	0.562																																						ENST00000416244.2																			4	Substitution - Missense(4)	p.A166S(4)	cervix(2)|prostate(2)	breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(496-498)Gcc>Tcc		major histocompatibility complex, class II, DM beta							172.0	128.0	143.0					6																	32905075		2203	4300	6503	SO:0001583	missense	3109				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32905075C>A		CCDS4760.1	6p21.3	2014-05-16			ENSG00000242574	ENSG00000242574		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4935	protein-coding gene	gene with protein product		142856				1922365	Standard	NM_002118		Approved	D6S221E, RING7	uc003ocl.2	P28068	OTTHUMG00000031176	ENST00000418107.2:c.496G>T	6.37:g.32905075C>A	ENSP00000398890:p.Ala166Ser					HLA-DMB_ENST00000418107.2_Missense_Mutation_p.A166S	p.A166S			P28068	DMB_HUMAN			3	690	-			166			Beta-2.|Ig-like C1-type.		O77936|Q13012|Q29751|Q58ZE2|Q5SNZ8|Q5STC4|Q9XRX2	Missense_Mutation	SNP	ENST00000418107.2	37	c.496G>T	CCDS4760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.21|12.21	1.870109|1.870109	0.33069|0.33069	.|.	.|.	ENSG00000242574|ENSG00000242574	ENST00000438510;ENST00000446948;ENST00000418107;ENST00000416244|ENST00000414017	T;T;T|.	0.13538|.	2.58;6.28;6.28|.	4.56|4.56	0.722|0.722	0.18225|0.18225	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);|.	1.327040|.	0.04955|.	N|.	0.460905|.	T|T	0.09158|0.09158	0.0226|0.0226	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B;B;P|.	0.38020|.	0.06;0.428;0.086;0.038;0.615|.	B;P;B;B;P|.	0.50970|.	0.155;0.578;0.222;0.405;0.655|.	T|T	0.35001|0.35001	-0.9806|-0.9806	10|5	0.87932|.	D|.	0|.	.|.	3.4002|3.4002	0.07320|0.07320	0.18:0.5253:0.0:0.2947|0.18:0.5253:0.0:0.2947	.|.	166;166;48;55;166|.	E9PD01;A2AAT3;B0V061;B0V062;P28068|.	.;.;.;.;DMB_HUMAN|.	S|F	48;166;166;166|55	ENSP00000390848:A48S;ENSP00000398890:A166S;ENSP00000391010:A166S|.	ENSP00000391010:A166S|.	A|C	-|-	1|2	0|0	HLA-DMB|HLA-DMB	33013053|33013053	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.307000|0.307000	0.27823|0.27823	-0.689000|-0.689000	0.05144|0.05144	0.012000|0.012000	0.14892|0.14892	-0.477000|-0.477000	0.04895|0.04895	GCC|TGC		0.562	HLA-DMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076340.2	NM_002118		5	200	5	200	---	---	---	---
RXRB	6257	broad.mit.edu	37	6	33164173	33164173	+	Intron	SNP	C	C	A	rs112185934		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:33164173C>A	ENST00000374680.3	-	5	1205				RXRB_ENST00000413614.2_Missense_Mutation_p.G248V|RXRB_ENST00000374685.4_Intron|RXRB_ENST00000544186.1_Intron	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta						cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCCCCCAACCCCCATCACGAA	0.587																																						ENST00000413614.2																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15						c.(742-744)gGg>gTg		retinoid X receptor, beta	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						115.0	130.0	124.0					6																	33164173		1509	2708	4217	SO:0001627	intron_variant	6257				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr6:33164173C>A	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.993+37G>T	6.37:g.33164173C>A						RXRB_ENST00000374685.4_Intron|RXRB_ENST00000374680.3_Intron|RXRB_ENST00000544186.1_Intron	p.G248V			P28702	RXRB_HUMAN			4	962	-			134					P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	ENST00000374680.3	37	c.743G>T	CCDS4768.1	.	.	.	.	.	.	.	.	.	.	C	7.663	0.685336	0.14973	.	.	ENSG00000204231	ENST00000413614	D	0.92752	-3.1	5.0	1.99	0.26369	.	.	.	.	.	T	0.59128	0.2171	.	.	.	0.20821	N	0.999846	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.57294	-0.7836	8	0.02654	T	1	.	6.7911	0.23699	0.3396:0.4724:0.1879:0.0	.	248;344	B7Z3E4;B7Z6J2	.;.	V	248	ENSP00000415561:G248V	ENSP00000415561:G248V	G	-	2	0	RXRB	33272151	0.001000	0.12720	0.507000	0.27676	0.049000	0.14656	0.087000	0.14958	0.648000	0.30732	0.549000	0.68633	GGG		0.587	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		5	157	5	157	---	---	---	---
B3GALT4	8705	broad.mit.edu	37	6	33246264	33246264	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:33246264C>A	ENST00000451237.1	+	1	1348	c.1068C>A	c.(1066-1068)ccC>ccA	p.P356P		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	356					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGACTGCGCCCTTTTGCTCCT	0.612																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(1066-1068)ccC>ccA		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							113.0	132.0	126.0					6																	33246264		2203	4300	6503	SO:0001819	synonymous_variant	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33246264C>A	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.1068C>A	6.37:g.33246264C>A							p.P356P	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	1348	+			356						Silent	SNP	ENST00000451237.1	37	c.1068C>A	CCDS34425.1																																																																																				0.612	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			6	258	6	258	---	---	---	---
KIFC1	3833	broad.mit.edu	37	6	33374079	33374079	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:33374079G>T	ENST00000428849.2	+	8	2093	c.1643G>T	c.(1642-1644)gGg>gTg	p.G548V		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	548	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CAGATTTCTGGGGAGCACTCC	0.657																																						ENST00000428849.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						c.(1642-1644)gGg>gTg		kinesin family member C1							94.0	107.0	103.0					6																	33374079		2203	4300	6503	SO:0001583	missense	3833				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	g.chr6:33374079G>T	D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1643G>T	6.37:g.33374079G>T	ENSP00000393963:p.Gly548Val						p.G548V	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN			8	2093	+			548			Kinesin-motor.		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	ENST00000428849.2	37	c.1643G>T	CCDS34430.1	.	.	.	.	.	.	.	.	.	.	g	19.79	3.893451	0.72639	.	.	ENSG00000237649	ENST00000428849	T	0.74842	-0.88	5.11	4.24	0.50183	Kinesin, motor domain (4);	0.053360	0.85682	D	0.000000	T	0.73361	0.3577	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77443	-0.2586	10	0.87932	D	0	-8.1345	9.1413	0.36906	0.098:0.0:0.902:0.0	.	540;548	B4E063;Q9BW19	.;KIFC1_HUMAN	V	548	ENSP00000393963:G548V	ENSP00000393963:G548V	G	+	2	0	KIFC1	33482057	1.000000	0.71417	0.991000	0.47740	0.749000	0.42624	8.104000	0.89551	1.362000	0.46000	0.558000	0.71614	GGG		0.657	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076417.1	NM_002263		7	255	7	255	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	34985545	34985545	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:34985545C>A	ENST00000360359.3	+	11	1857	c.1719C>A	c.(1717-1719)ccC>ccA	p.P573P	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	573					ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CAGGCCTGCCCACCACCAACA	0.647																																						ENST00000360359.3																			0				cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1717-1719)ccC>ccA		ankyrin repeat and sterile alpha motif domain containing 1A							60.0	67.0	65.0					6																	34985545		2203	4300	6503	SO:0001819	synonymous_variant	23294					cytoplasm	protein binding	g.chr6:34985545C>A	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.1719C>A	6.37:g.34985545C>A						ANKS1A_ENST00000535627.1_Intron	p.P573P	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN			11	1857	+			573					A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Silent	SNP	ENST00000360359.3	37	c.1719C>A	CCDS4798.1																																																																																				0.647	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		5	113	5	113	---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35980014	35980014	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:35980014G>T	ENST00000490799.1	-	3	677	c.324C>A	c.(322-324)ccC>ccA	p.P108P	SLC26A8_ENST00000394602.2_Silent_p.P108P|SLC26A8_ENST00000355574.2_Silent_p.P108P	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CCTTACCTTGGGGAACTTGCA	0.423																																						ENST00000490799.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						c.(322-324)ccC>ccA		solute carrier family 26 (anion exchanger), member 8							261.0	247.0	252.0					6																	35980014		2203	4300	6503	SO:0001819	synonymous_variant	116369				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	g.chr6:35980014G>T	AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.324C>A	6.37:g.35980014G>T						SLC26A8_ENST00000394602.2_Silent_p.P108P|SLC26A8_ENST00000355574.2_Silent_p.P108P	p.P108P	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN			3	677	-			108						Silent	SNP	ENST00000490799.1	37	c.324C>A	CCDS4813.1																																																																																				0.423	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040325.2			9	548	9	548	---	---	---	---
C6orf222	389384	broad.mit.edu	37	6	36297859	36297859	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:36297859C>A	ENST00000437635.2	-	2	786	c.609G>T	c.(607-609)agG>agT	p.R203S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	203										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TCCGCTCACCCCTGCGAGCTG	0.647																																						ENST00000437635.2																			0				breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						c.(607-609)agG>agT		chromosome 6 open reading frame 222							54.0	54.0	54.0					6																	36297859		2203	4300	6503	SO:0001630	splice_region_variant	389384							g.chr6:36297859C>A		CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.610+1G>T	6.37:g.36297859C>A							p.R203S	NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN			2	786	-			203					B2RTY8	Splice_Site	SNP	ENST00000437635.2	37	c.609G>T	CCDS34439.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.095629	0.36952	.	.	ENSG00000189325	ENST00000437635	T	0.57595	0.39	4.35	1.43	0.22495	.	1.287410	0.05386	N	0.538213	T	0.29126	0.0724	L	0.43152	1.355	0.24481	N	0.994341	P	0.46784	0.884	P	0.45538	0.484	T	0.14117	-1.0484	10	0.42905	T	0.14	-44.0895	5.4671	0.16650	0.0:0.6095:0.0:0.3905	.	203	P0C671	CF222_HUMAN	S	203	ENSP00000418983:R203S	ENSP00000418983:R203S	R	-	3	2	C6orf222	36405837	0.268000	0.24133	0.751000	0.31187	0.186000	0.23388	0.311000	0.19380	0.514000	0.28300	0.442000	0.29010	AGG		0.647	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040338.2	NM_001010903	Missense_Mutation	6	107	6	107	---	---	---	---
ETV7	51513	broad.mit.edu	37	6	36334671	36334671	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:36334671C>A	ENST00000340181.4	-	7	1130	c.889G>T	c.(889-891)Ggg>Tgg	p.G297W	ETV7_ENST00000339796.5_Missense_Mutation_p.G297W|ETV7_ENST00000373737.4_Missense_Mutation_p.G220W|ETV7_ENST00000538992.1_Missense_Mutation_p.G146W|ETV7_ENST00000373738.1_Missense_Mutation_p.G242W	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	297					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						AGTTTCTGCCCCGGTTCCTTC	0.552																																						ENST00000373738.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						c.(724-726)Ggg>Tgg		ets variant 7							182.0	199.0	193.0					6																	36334671		2203	4300	6503	SO:0001583	missense	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36334671C>A	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.889G>T	6.37:g.36334671C>A	ENSP00000341843:p.Gly297Trp					ETV7_ENST00000339796.5_Missense_Mutation_p.G297W|ETV7_ENST00000340181.4_Missense_Mutation_p.G297W|ETV7_ENST00000373737.4_Missense_Mutation_p.G220W|ETV7_ENST00000538992.1_Missense_Mutation_p.G146W	p.G242W	NM_001207036.1	NP_001193965.1	Q9Y603	ETV7_HUMAN			6	1569	-			297					B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	c.724G>T	CCDS4819.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967488	0.53507	.	.	ENSG00000010030	ENST00000339796;ENST00000340181;ENST00000373737;ENST00000373738;ENST00000538992	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	4.58	3.71	0.42584	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.062783	0.64402	D	0.000005	T	0.68393	0.2996	M	0.93550	3.43	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.77469	-0.2576	10	0.87932	D	0	.	12.399	0.55402	0.0:0.9165:0.0:0.0835	.	238;220;242;297;242;297	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603;Q9Y603-6;Q9Y603-5	.;.;.;ETV7_HUMAN;.;.	W	297;297;220;242;146	ENSP00000342260:G297W;ENSP00000341843:G297W;ENSP00000362842:G220W;ENSP00000362843:G242W;ENSP00000440592:G146W	ENSP00000342260:G297W	G	-	1	0	ETV7	36442649	1.000000	0.71417	0.596000	0.28811	0.482000	0.33219	5.367000	0.66127	0.916000	0.36871	0.655000	0.94253	GGG		0.552	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		9	588	9	588	---	---	---	---
RNF8	9025	broad.mit.edu	37	6	37336306	37336306	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:37336306G>T	ENST00000373479.4	+	3	480	c.287G>T	c.(286-288)aGg>aTg	p.R96M	RNF8_ENST00000469731.1_Missense_Mutation_p.R96M|RNF8_ENST00000479516.1_3'UTR	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	96					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAACCTTTAAGGGTCTATTCC	0.413																																						ENST00000373479.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						c.(286-288)aGg>aTg		ring finger protein 8, E3 ubiquitin protein ligase							121.0	124.0	123.0					6																	37336306		2203	4300	6503	SO:0001583	missense	9025				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:37336306G>T	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.287G>T	6.37:g.37336306G>T	ENSP00000362578:p.Arg96Met					RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.R96M	p.R96M	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN			3	480	+			96					A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	c.287G>T	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500739	0.64298	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;D;D	0.87256	-2.23;-2.23;-2.23	5.85	2.29	0.28610	Forkhead-associated (FHA) domain (2);SMAD/FHA domain (1);	0.356561	0.31760	N	0.007120	T	0.77955	0.4208	L	0.45228	1.405	0.80722	D	1	P;P	0.52577	0.954;0.644	P;B	0.48488	0.579;0.441	T	0.77776	-0.2461	10	0.72032	D	0.01	-1.5359	8.3073	0.32049	0.7687:0.0:0.2313:0.0	.	39;96	C9J858;O76064	.;RNF8_HUMAN	M	96;39;96	ENSP00000362578:R96M;ENSP00000417736:R39M;ENSP00000418879:R96M	ENSP00000362578:R96M	R	+	2	0	RNF8	37444284	1.000000	0.71417	0.932000	0.37286	0.956000	0.61745	2.487000	0.45268	0.489000	0.27749	-0.302000	0.09304	AGG		0.413	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040403.2			6	367	6	367	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41617368	41617368	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:41617368G>T	ENST00000373050.4	+	3	275	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W				Q99750	MDFI_HUMAN	MyoD family inhibitor	91					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CCAGCCTCAGGGGAACCCCTT	0.632																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(88-90)Ggg>Tgg		MyoD family inhibitor							131.0	157.0	148.0					6																	41617368		2203	4300	6503	SO:0001583	missense	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41617368G>T	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.88G>T	6.37:g.41617368G>T	ENSP00000362141:p.Gly30Trp						p.G30W			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		3	275	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		91						Missense_Mutation	SNP	ENST00000373050.4	37	c.88G>T		.	.	.	.	.	.	.	.	.	.	G	19.28	3.797488	0.70567	.	.	ENSG00000112559	ENST00000432027;ENST00000419164;ENST00000373051;ENST00000441667;ENST00000230321;ENST00000543326;ENST00000373050;ENST00000446650;ENST00000435476	.	.	.	5.64	5.64	0.86602	.	0.487758	0.19824	N	0.105227	T	0.65291	0.2677	L	0.56769	1.78	0.35723	D	0.817327	D	0.89917	1.0	D	0.74348	0.983	T	0.69390	-0.5158	9	0.66056	D	0.02	-19.1563	13.3407	0.60542	0.0:0.2043:0.7957:0.0	.	91	Q99750	MDFI_HUMAN	W	91;91;91;91;91;91;30;91;30	.	ENSP00000230321:G91W	G	+	1	0	MDFI	41725346	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.635000	0.61332	2.655000	0.90218	0.655000	0.94253	GGG		0.632	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		8	442	8	442	---	---	---	---
TFEB	7942	broad.mit.edu	37	6	41703948	41703948	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:41703948C>A	ENST00000403298.4	-	0	49				RP11-298J23.5_ENST00000438967.1_RNA|TFEB_ENST00000394283.1_5'Flank|TFEB_ENST00000230323.4_5'Flank|TFEB_ENST00000373033.1_5'Flank|TFEB_ENST00000420312.1_5'Flank|TFEB_ENST00000358871.2_De_novo_Start_OutOfFrame			P19484	TFEB_HUMAN	transcription factor EB						autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GTCACCTTCCCTTGTTGGAAG	0.547			T	ALPHA	renal (childhood epithelioid)																																	ENST00000358871.2				Dom	yes		6	6p21	7942	T	transcription factor EB			"""E,M"""	ALPHA		renal (childhood epithelioid)		0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11								transcription factor EB							319.0	291.0	300.0					6																	41703948		876	1991	2867			7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41703948C>A	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000403298.4:c.-87G>T	6.37:g.41703948C>A						TFEB_ENST00000403298.4_De_novo_Start_OutOfFrame		NM_001167827.1	NP_001161299.2	P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		0	49	-	Ovarian(28;0.0355)|Colorectal(47;0.121)							Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Translation_Start_Site	SNP	ENST00000403298.4	37		CCDS4858.1																																																																																				0.547	TFEB-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106775.2			7	410	7	410	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43166385	43166385	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:43166385C>A	ENST00000252050.4	+	12	2926	c.2842C>A	c.(2842-2844)Cct>Act	p.P948T	CUL9_ENST00000372647.2_Missense_Mutation_p.P948T|CUL9_ENST00000354495.3_Missense_Mutation_p.P838T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	948					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGATGGGTCCCCTGAGCTACT	0.577																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(2842-2844)Cct>Act		cullin 9							118.0	121.0	120.0					6																	43166385		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43166385C>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2842C>A	6.37:g.43166385C>A	ENSP00000252050:p.Pro948Thr					CUL9_ENST00000354495.3_Missense_Mutation_p.P838T|CUL9_ENST00000372647.2_Missense_Mutation_p.P948T	p.P948T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			12	2926	+			948					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2842C>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.093191	0.56075	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73258	-0.73;-0.73;-0.63	5.28	3.38	0.38709	Armadillo-type fold (1);	0.731865	0.12895	N	0.430284	T	0.43765	0.1262	L	0.43923	1.385	0.28302	N	0.923072	P;P;P	0.40660	0.726;0.565;0.565	B;B;B	0.37650	0.255;0.079;0.079	T	0.19614	-1.0300	10	0.44086	T	0.13	-6.6985	8.6407	0.33974	0.0:0.7025:0.2025:0.095	.	838;948;948	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	T	948;838;948	ENSP00000252050:P948T;ENSP00000346490:P838T;ENSP00000361730:P948T	ENSP00000252050:P948T	P	+	1	0	CUL9	43274363	0.436000	0.25586	1.000000	0.80357	0.988000	0.76386	0.714000	0.25808	1.227000	0.43598	0.555000	0.69702	CCT		0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		7	331	7	331	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43416688	43416688	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:43416688C>A	ENST00000372530.4	+	19	4244	c.4029C>A	c.(4027-4029)ccC>ccA	p.P1343P	ABCC10_ENST00000244533.3_Silent_p.P1315P	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1343	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	ACCTGGACCCCCAGGGCCTAC	0.562																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3943-3945)ccC>ccA		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							60.0	60.0	60.0					6																	43416688		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43416688C>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.4029C>A	6.37:g.43416688C>A						ABCC10_ENST00000372530.4_Silent_p.P1343P	p.P1315P	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		17	4304	+	all_lung(25;0.00536)		1343			ABC transporter 2.		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3945C>A	CCDS56430.1																																																																																				0.562	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		4	76	4	76	---	---	---	---
XPO5	57510	broad.mit.edu	37	6	43538333	43538333	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:43538333C>A	ENST00000265351.7	-	5	737	c.527G>T	c.(526-528)aGg>aTg	p.R176M		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	176					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTGGATGTCCCTTCTTCTTTG	0.413																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(526-528)aGg>aTg		exportin 5							182.0	178.0	179.0					6																	43538333		1888	4118	6006	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43538333C>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.527G>T	6.37:g.43538333C>A	ENSP00000265351:p.Arg176Met						p.R176M	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		5	737	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		176					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.527G>T	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263879	0.95399	.	.	ENSG00000124571	ENST00000265351	T	0.46819	0.86	5.78	5.78	0.91487	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64046	0.2563	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.58891	-0.7556	10	0.41790	T	0.15	-17.2057	20.3668	0.98882	0.0:1.0:0.0:0.0	.	176	Q9HAV4	XPO5_HUMAN	M	176	ENSP00000265351:R176M	ENSP00000265351:R176M	R	-	2	0	XPO5	43646311	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	AGG		0.413	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		6	381	6	381	---	---	---	---
SLC25A27	9481	broad.mit.edu	37	6	46623673	46623673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:46623673C>A	ENST00000371347.5	+	2	452	c.200C>A	c.(199-201)cCc>cAc	p.P67H	SLC25A27_ENST00000411689.2_Missense_Mutation_p.P67H|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	67					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAATCTGCCCCCTATAGGGGA	0.507																																						ENST00000371347.5																			0				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8						c.(199-201)cCc>cAc		solute carrier family 25, member 27							104.0	106.0	105.0					6																	46623673		1886	4113	5999	SO:0001583	missense	9481				generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		g.chr6:46623673C>A	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.200C>A	6.37:g.46623673C>A	ENSP00000360398:p.Pro67His					SLC25A27_ENST00000411689.2_Missense_Mutation_p.P67H|SLC25A27_ENST00000452689.2_5'UTR	p.P67H	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	Lung(136;0.192)		2	452	+			67					F5GWR4|Q5VTS9|Q8N518	Missense_Mutation	SNP	ENST00000371347.5	37	c.200C>A	CCDS43470.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875760	0.51695	.	.	ENSG00000153291	ENST00000371347;ENST00000411689	T;T	0.79033	-1.23;-1.23	5.51	5.51	0.81932	Mitochondrial carrier domain (2);	0.149882	0.45606	D	0.000353	T	0.67683	0.2919	L	0.47716	1.5	0.80722	D	1	B;B	0.23249	0.082;0.013	B;B	0.32022	0.139;0.023	T	0.67971	-0.5532	10	0.52906	T	0.07	-10.6744	16.9173	0.86154	0.0:1.0:0.0:0.0	.	67;67	O95847;F5GWR4	UCP4_HUMAN;.	H	67	ENSP00000360398:P67H;ENSP00000412024:P67H	ENSP00000360398:P67H	P	+	2	0	SLC25A27	46731632	0.782000	0.28689	0.959000	0.39883	0.971000	0.66376	3.872000	0.56085	2.564000	0.86499	0.650000	0.86243	CCC		0.507	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277		6	188	6	188	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51609253	51609253	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:51609253C>A	ENST00000371117.3	-	60	10361	c.10086G>T	c.(10084-10086)ctG>ctT	p.L3362L	PKHD1_ENST00000340994.4_Silent_p.L3362L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3362					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGGCAGACCCAGGGCTCTCC	0.448																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(10084-10086)ctG>ctT		polycystic kidney and hepatic disease 1 (autosomal recessive)							108.0	106.0	107.0					6																	51609253		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51609253C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10086G>T	6.37:g.51609253C>A						PKHD1_ENST00000340994.4_Silent_p.L3362L	p.L3362L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			60	10361	-	Lung NSC(77;0.0605)		3362					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.10086G>T	CCDS4935.1																																																																																				0.448	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	258	6	258	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51777278	51777278	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:51777278C>A	ENST00000371117.3	-	38	6493	c.6218G>T	c.(6217-6219)gGg>gTg	p.G2073V	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2073V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2073					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACTTCATCCCCAGGGTTCCA	0.473																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(6217-6219)gGg>gTg		polycystic kidney and hepatic disease 1 (autosomal recessive)							170.0	155.0	160.0					6																	51777278		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51777278C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.6218G>T	6.37:g.51777278C>A	ENSP00000360158:p.Gly2073Val					PKHD1_ENST00000340994.4_Missense_Mutation_p.G2073V	p.G2073V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			38	6493	-	Lung NSC(77;0.0605)		2073					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.6218G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259294	0.80246	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.98028	-4.67;-4.67	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	M	0.87097	2.86	0.80722	D	1	D;P;D	0.71674	0.998;0.588;0.982	D;B;P	0.71870	0.975;0.315;0.693	D	0.99453	1.0941	10	0.87932	D	0	.	15.9758	0.80063	0.0:1.0:0.0:0.0	.	2073;2073;2073	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	V	2073	ENSP00000360158:G2073V;ENSP00000341097:G2073V	ENSP00000341097:G2073V	G	-	2	0	PKHD1	51885237	0.960000	0.32886	0.943000	0.38184	0.982000	0.71751	4.133000	0.57983	2.847000	0.97988	0.655000	0.94253	GGG		0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		6	294	6	294	---	---	---	---
MLIP	90523	broad.mit.edu	37	6	53989461	53989461	+	Missense_Mutation	SNP	G	G	T	rs143336016		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:53989461G>T	ENST00000274897.5	+	3	523	c.410G>T	c.(409-411)gGg>gTg	p.G137V	MLIP_ENST00000514921.1_Missense_Mutation_p.G137V|MLIP_ENST00000370877.2_Missense_Mutation_p.G85V|MLIP_ENST00000358276.5_Missense_Mutation_p.G131V|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000509997.1_Missense_Mutation_p.G85V|MLIP_ENST00000370876.2_Missense_Mutation_p.G75V|MLIP_ENST00000502396.1_Missense_Mutation_p.G148V	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	137						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.G137V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GACTCCGAAGGGGAAGATGAG	0.502																																						ENST00000514921.1																			1	Substitution - Missense(1)	p.G137V(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(409-411)gGg>gTg		muscular LMNA-interacting protein							95.0	95.0	95.0					6																	53989461		2203	4300	6503	SO:0001583	missense	90523					nuclear envelope|PML body	protein binding	g.chr6:53989461G>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.410G>T	6.37:g.53989461G>T	ENSP00000274897:p.Gly137Val					MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Missense_Mutation_p.G75V|MLIP_ENST00000358276.5_Missense_Mutation_p.G131V|MLIP_ENST00000509997.1_Missense_Mutation_p.G85V|MLIP_ENST00000274897.5_Missense_Mutation_p.G137V|MLIP_ENST00000370877.2_Missense_Mutation_p.G85V|MLIP_ENST00000502396.1_Missense_Mutation_p.G148V	p.G137V	NM_001281746.1	NP_001268675.1	Q5VWP3	MLIP_HUMAN			3	523	+			137					B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	ENST00000274897.5	37	c.410G>T	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260010	0.80246	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000511678;ENST00000503951;ENST00000502396;ENST00000358276;ENST00000370878;ENST00000514433	T;T;T;T;T;T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67;0.67	5.68	5.68	0.88126	.	0.221256	0.40908	D	0.000999	T	0.59905	0.2228	M	0.68952	2.095	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.988;0.996	T	0.58736	-0.7584	9	.	.	.	-10.9228	15.2975	0.73922	0.0:0.0:1.0:0.0	.	148;148;75;137;137	Q5VWP3-3;B7ZA42;Q5VWP3-2;Q5VWP3;D6RE05	.;.;.;MLIP_HUMAN;.	V	137;137;85;85;75;19;19;96;148;131;19;138	ENSP00000274897:G137V;ENSP00000425142:G137V;ENSP00000359914:G85V;ENSP00000427584:G85V;ENSP00000359913:G75V;ENSP00000411917:G19V;ENSP00000427057:G19V;ENSP00000426830:G96V;ENSP00000426290:G148V;ENSP00000351019:G131V;ENSP00000421444:G138V	.	G	+	2	0	MLIP	54097420	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.759000	0.55227	2.673000	0.90976	0.650000	0.86243	GGG		0.502	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		9	197	9	197	---	---	---	---
DST	667	broad.mit.edu	37	6	56481294	56481294	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:56481294C>A	ENST00000370765.6	-	24	7078	c.6971G>T	c.(6970-6972)gGg>gTg	p.G2324V	DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1657					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTTCCTCTCCCCAAATGGAAA	0.383																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(6970-6972)gGg>gTg		dystonin							87.0	86.0	86.0					6																	56481294		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56481294C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.6971G>T	6.37:g.56481294C>A	ENSP00000359801:p.Gly2324Val					DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron	p.G2324V	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		24	7078	-	Lung NSC(77;0.103)		1657					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.6971G>T	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936434	0.34189	.	.	ENSG00000151914	ENST00000370765	T	0.72725	-0.68	5.62	5.62	0.85841	.	.	.	.	.	T	0.81380	0.4810	.	.	.	0.19575	N	0.999966	D	0.89917	1.0	D	0.81914	0.995	T	0.76702	-0.2862	7	0.31617	T	0.26	.	20.0246	0.97519	0.0:1.0:0.0:0.0	.	2324	Q03001-3	.	V	2324	ENSP00000359801:G2324V	ENSP00000359801:G2324V	G	-	2	0	DST	56589253	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.920000	0.63390	2.810000	0.96702	0.650000	0.86243	GGG		0.383	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		6	251	6	251	---	---	---	---
BAI3	577	broad.mit.edu	37	6	70034913	70034913	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:70034913G>T	ENST00000370598.1	+	21	3785	c.2964G>T	c.(2962-2964)tgG>tgT	p.W988C	BAI3_ENST00000238918.8_Splice_Site_p.W194C	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	988					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCCTTGGATGGGGTAAGCATA	0.408																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(2962-2964)tgG>tgT		brain-specific angiogenesis inhibitor 3							173.0	166.0	168.0					6																	70034913		2203	4300	6503	SO:0001630	splice_region_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:70034913G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2965+1G>T	6.37:g.70034913G>T						BAI3_ENST00000238918.8_Splice_Site_p.W194C	p.W988C	NM_001704.2	NP_001695	O60242	BAI3_HUMAN			21	3785	+		all_lung(197;0.212)	988					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Splice_Site	SNP	ENST00000370598.1	37	c.2964G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703418	0.88924	.	.	ENSG00000135298	ENST00000370598;ENST00000238918	T;T	0.62788	0.0;0.0	6.07	6.07	0.98685	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.83686	0.5308	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;0.996;1.0	D	0.86025	0.1509	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	194;988;988	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	C	988;194	ENSP00000359630:W988C;ENSP00000238918:W194C	ENSP00000238918:W194C	W	+	3	0	BAI3	70091634	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.835000	0.99442	2.885000	0.99019	0.655000	0.94253	TGG		0.408	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		Missense_Mutation	7	214	7	214	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75884838	75884838	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:75884838C>A	ENST00000322507.8	-	13	2935	c.2626G>T	c.(2626-2628)Ggg>Tgg	p.G876W	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.G876W|COL12A1_ENST00000416123.2_Missense_Mutation_p.G876W	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	876	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATTGTGTCCCTTCCTTCAAT	0.498																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2626-2628)Ggg>Tgg		collagen, type XII, alpha 1							274.0	271.0	272.0					6																	75884838		2027	4171	6198	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75884838C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2626G>T	6.37:g.75884838C>A	ENSP00000325146:p.Gly876Trp					COL12A1_ENST00000416123.2_Missense_Mutation_p.G876W|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.G876W	p.G876W	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			13	2935	-			876			Fibronectin type-III 5.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2626G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400917	0.62177	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.63417	-0.04;-0.04;-0.04	5.94	5.94	0.96194	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.163547	0.42420	D	0.000709	T	0.73194	0.3556	M	0.72353	2.195	0.44155	D	0.996953	D	0.89917	1.0	D	0.83275	0.996	T	0.75822	-0.3182	10	0.87932	D	0	.	13.5417	0.61679	0.0:0.9291:0.0:0.0709	.	876	Q99715	COCA1_HUMAN	W	876	ENSP00000325146:G876W;ENSP00000412864:G876W;ENSP00000421216:G876W	ENSP00000325146:G876W	G	-	1	0	COL12A1	75941558	1.000000	0.71417	0.906000	0.35671	0.455000	0.32408	4.675000	0.61619	2.812000	0.96745	0.557000	0.71058	GGG		0.498	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		6	347	6	347	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76124424	76124424	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:76124424C>A	ENST00000237172.7	-	2	595	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	FILIP1_ENST00000393004.2_Missense_Mutation_p.G89W	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	89				ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589). {ECO:0000305}.						breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGCAACTCCCCTTCCATTATA	0.383																																						ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(265-267)Ggg>Tgg		filamin A interacting protein 1							177.0	170.0	172.0					6																	76124424		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76124424C>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.265G>T	6.37:g.76124424C>A	ENSP00000237172:p.Gly89Trp					FILIP1_ENST00000237172.7_Missense_Mutation_p.G89W	p.G89W			Q7Z7B0	FLIP1_HUMAN			2	486	-			89	ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589).				B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.265G>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861844	0.71949	.	.	ENSG00000118407	ENST00000393004;ENST00000237172	T;T	0.74002	-0.8;-0.8	5.75	5.75	0.90469	Cortactin-binding protein-2, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88265	0.6390	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.984;0.993;0.987	D	0.89704	0.3907	10	0.87932	D	0	-26.6688	19.9353	0.97137	0.0:1.0:0.0:0.0	.	89;89;89	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	89	ENSP00000376728:G89W;ENSP00000237172:G89W	ENSP00000237172:G89W	G	-	1	0	FILIP1	76181144	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	5.743000	0.68655	2.704000	0.92352	0.655000	0.94253	GGG		0.383	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		7	489	7	489	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86324701	86324701	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:86324701C>A	ENST00000369622.3	-	11	2145	c.1645G>T	c.(1645-1647)Ggg>Tgg	p.G549W	RP11-321N4.5_ENST00000503906.1_Silent_p.A84A|SYNCRIP_ENST00000355238.6_Missense_Mutation_p.G549W	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	549	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCACGTACCCCGCGGCCTCTT	0.602																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1645-1647)Ggg>Tgg		synaptotagmin binding, cytoplasmic RNA interacting protein							139.0	147.0	144.0					6																	86324701		2203	4300	6503	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324701C>A	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1645G>T	6.37:g.86324701C>A	ENSP00000358635:p.Gly549Trp					SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G549W|RP11-321N4.5_ENST00000503906.1_Silent_p.A84A	p.G549W	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	1851	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	549			8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1645G>T	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726885	0.30593	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.33654	1.4;1.45	5.39	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	L	0.55481	1.735	0.80722	D	1	B;B;B;B;B;B;B	0.15930	0.003;0.005;0.0;0.002;0.015;0.005;0.003	B;B;B;B;B;B;B	0.15052	0.003;0.012;0.0;0.001;0.012;0.012;0.003	T	0.06481	-1.0824	10	0.51188	T	0.08	.	15.2216	0.73316	0.1418:0.8582:0.0:0.0	.	549;514;451;397;514;549;549	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	W	549	ENSP00000347380:G549W;ENSP00000358635:G549W	ENSP00000347380:G549W	G	-	1	0	SYNCRIP	86381420	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.676000	0.84012	1.223000	0.43536	0.563000	0.77884	GGG		0.602	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		6	298	6	298	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87943065	87943065	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:87943065G>T	ENST00000369577.3	+	5	604	c.561G>T	c.(559-561)gaG>gaT	p.E187D	ZNF292_ENST00000339907.4_Missense_Mutation_p.E182D	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	187						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGCTTTTGAGGGTCCCATCT	0.303																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(559-561)gaG>gaT		zinc finger protein 292							60.0	57.0	58.0					6																	87943065		1811	4073	5884	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87943065G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.561G>T	6.37:g.87943065G>T	ENSP00000358590:p.Glu187Asp					ZNF292_ENST00000339907.4_Missense_Mutation_p.E182D	p.E187D	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	5	604	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	187					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.561G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755095	0.69648	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.32272	1.53;1.46	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	M	0.76574	2.34	0.34632	D	0.719694	D	0.58268	0.982	P	0.55112	0.769	T	0.46652	-0.9176	10	0.87932	D	0	.	7.3046	0.26440	0.2044:0.0:0.7956:0.0	.	187	O60281	ZN292_HUMAN	D	187;182	ENSP00000358590:E187D;ENSP00000342847:E182D	ENSP00000342847:E182D	E	+	3	2	ZNF292	87999784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.348000	0.52209	2.671000	0.90904	0.563000	0.77884	GAG		0.303	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		4	103	4	103	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90424370	90424370	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:90424370G>T	ENST00000369393.3	-	46	7076	c.6961C>A	c.(6961-6963)Cca>Aca	p.P2321T	MDN1_ENST00000428876.1_Missense_Mutation_p.P2321T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2321					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGGTTGTCTGGGGTGCTTGCA	0.493																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(6961-6963)Cca>Aca		MDN1, midasin homolog (yeast)							149.0	122.0	131.0					6																	90424370		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90424370G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.6961C>A	6.37:g.90424370G>T	ENSP00000358400:p.Pro2321Thr					MDN1_ENST00000428876.1_Missense_Mutation_p.P2321T	p.P2321T			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	46	7076	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2321					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.6961C>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	2.810	-0.247262	0.05867	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03094	4.05;4.05	5.01	4.14	0.48551	.	0.422018	0.26058	N	0.026598	T	0.01287	0.0042	L	0.51422	1.61	0.25534	N	0.987249	B	0.22800	0.075	B	0.20384	0.029	T	0.46789	-0.9166	10	0.17369	T	0.5	.	8.3057	0.32041	0.2544:0.0:0.7456:0.0	.	2321	Q9NU22	MDN1_HUMAN	T	2321	ENSP00000358400:P2321T;ENSP00000413970:P2321T	ENSP00000358400:P2321T	P	-	1	0	MDN1	90481091	0.960000	0.32886	0.068000	0.19968	0.075000	0.17131	2.003000	0.40844	1.238000	0.43771	0.637000	0.83480	CCA		0.493	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			5	168	5	168	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100841442	100841442	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:100841442G>T	ENST00000369208.3	-	11	2273	c.1491C>A	c.(1489-1491)ccC>ccA	p.P497P	SIM1_ENST00000262901.4_Silent_p.P497P			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	497	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCTTTGTCAGGGGCAAGGCTG	0.612																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1489-1491)ccC>ccA		single-minded family bHLH transcription factor 1							77.0	79.0	78.0					6																	100841442		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841442G>T	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1491C>A	6.37:g.100841442G>T						SIM1_ENST00000262901.4_Silent_p.P497P	p.P497P			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2273	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	497			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1491C>A	CCDS5045.1																																																																																				0.612	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		6	155	6	155	---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109215669	109215669	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:109215669G>T	ENST00000392644.4	+	6	839		c.e6-1		ARMC2_ENST00000368972.3_Splice_Site	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2											endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ATTCCTCCTAGGGACCAGGGG	0.453																																						ENST00000392644.4																			0				endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24						c.e6-1		armadillo repeat containing 2							101.0	97.0	98.0					6																	109215669		2203	4300	6503	SO:0001630	splice_region_variant	84071						binding	g.chr6:109215669G>T	BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.672-1G>T	6.37:g.109215669G>T						ARMC2_ENST00000368972.3_Splice_Site		NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)	6	839	+		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)						A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Splice_Site	SNP	ENST00000392644.4	37		CCDS5069.2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032652	0.54790	.	.	ENSG00000118690	ENST00000368972;ENST00000392644	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5305	0.67923	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARMC2	109322362	1.000000	0.71417	0.998000	0.56505	0.651000	0.38670	4.425000	0.59875	2.885000	0.99019	0.655000	0.94253	.		0.453	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041732.2	NM_032131	Intron	5	150	5	150	---	---	---	---
MICAL1	64780	broad.mit.edu	37	6	109768401	109768401	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:109768401C>A	ENST00000358807.3	-	17	2413	c.2102G>T	c.(2101-2103)gGg>gTg	p.G701V	MICAL1_ENST00000368952.4_Missense_Mutation_p.G720V|MICAL1_ENST00000358577.3_Missense_Mutation_p.G615V	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	701	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GAGGTGTTCCCCACAAAGTGC	0.612																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(2158-2160)gGg>gTg		microtubule associated monooxygenase, calponin and LIM domain containing 1							112.0	113.0	113.0					6																	109768401		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109768401C>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2102G>T	6.37:g.109768401C>A	ENSP00000351664:p.Gly701Val					MICAL1_ENST00000358577.3_Missense_Mutation_p.G615V|MICAL1_ENST00000358807.3_Missense_Mutation_p.G701V	p.G720V			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	17	2449	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	701			LIM zinc-binding.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.2159G>T	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.793637	0.90453	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	D;D;D	0.87887	-2.31;-2.31;-2.31	5.89	5.89	0.94794	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.94251	0.8154	M	0.90870	3.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.94542	0.7746	10	0.62326	D	0.03	.	15.7619	0.78091	0.0:1.0:0.0:0.0	.	720;615;701	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	V	701;720;615;225	ENSP00000351664:G701V;ENSP00000357948:G720V;ENSP00000351385:G615V	ENSP00000351385:G615V	G	-	2	0	MICAL1	109875094	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.954000	0.63631	2.793000	0.96121	0.655000	0.94253	GGG		0.612	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		5	123	5	123	---	---	---	---
SLC22A16	85413	broad.mit.edu	37	6	110746101	110746101	+	Missense_Mutation	SNP	G	G	T	rs373092945		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:110746101G>T	ENST00000368919.3	-	8	1775	c.1709C>A	c.(1708-1710)cCc>cAc	p.P570H	SLC22A16_ENST00000330550.4_Missense_Mutation_p.P536H	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	570					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	AGAATCCCTGGGGGTAATCGC	0.418																																						ENST00000368919.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1708-1710)cCc>cAc		solute carrier family 22 (organic cation/carnitine transporter), member 16							139.0	132.0	134.0					6																	110746101		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110746101G>T		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1709C>A	6.37:g.110746101G>T	ENSP00000357915:p.Pro570His					SLC22A16_ENST00000330550.4_Missense_Mutation_p.P536H	p.P570H	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	8	1775	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	570					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.1709C>A	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.355043	0.24512	.	.	ENSG00000004809	ENST00000368919;ENST00000330550	T;T	0.69175	-0.17;-0.38	4.96	-0.873	0.10635	.	6.802490	0.00166	N	0.000000	T	0.31263	0.0791	N	0.08118	0	0.09310	N	1	P;P	0.43094	0.697;0.799	B;P	0.47134	0.338;0.539	T	0.23726	-1.0180	10	0.45353	T	0.12	.	3.6709	0.08273	0.4593:0.0:0.3648:0.1759	.	570;536	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	H	570;536	ENSP00000357915:P570H;ENSP00000328583:P536H	ENSP00000328583:P536H	P	-	2	0	SLC22A16	110852794	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.322000	0.19576	0.104000	0.17725	0.591000	0.81541	CCC		0.418	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		6	302	6	302	---	---	---	---
SLC16A10	117247	broad.mit.edu	37	6	111540220	111540220	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:111540220C>A	ENST00000368851.5	+	5	1465	c.1290C>A	c.(1288-1290)ccC>ccA	p.P430P	SLC16A10_ENST00000368850.3_Silent_p.P116P	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	430					amino acid transport (GO:0006865)|aromatic amino acid transport (GO:0015801)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	Droxidopa(DB06262)|Glycine(DB00145)|L-Alanine(DB00160)|L-Arginine(DB00125)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Cystine(DB00138)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Histidine(DB00117)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Lysine(DB00123)|L-Methionine(DB00134)|L-Phenylalanine(DB00120)|L-Proline(DB00172)|L-Serine(DB00133)|L-Threonine(DB00156)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|L-Valine(DB00161)|Liothyronine(DB00279)|Liotrix(DB01583)|Pyruvic acid(DB00119)	TGTCTATACCCATGACTGTTG	0.393																																						ENST00000368850.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12						c.(346-348)ccC>ccA		solute carrier family 16 (aromatic amino acid transporter), member 10							117.0	104.0	109.0					6																	111540220		2203	4300	6503	SO:0001819	synonymous_variant	117247				aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	g.chr6:111540220C>A	AF116652	CCDS5089.1	6q21-q22	2014-01-28	2013-07-18		ENSG00000112394	ENSG00000112394		"""Solute carriers"""	17027	protein-coding gene	gene with protein product		607550	"""solute carrier family 16 (monocarboxylic acid transporters), member 10"""			11278508, 11827462	Standard	NM_018593		Approved	TAT1, MCT10	uc003pus.3	Q8TF71	OTTHUMG00000015371	ENST00000368851.5:c.1290C>A	6.37:g.111540220C>A						SLC16A10_ENST00000368851.5_Silent_p.P430P	p.P116P			Q8TF71	MOT10_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)	4	834	+		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)	430					B3KWY0|Q6ZMG0|Q8WVI5	Silent	SNP	ENST00000368851.5	37	c.348C>A	CCDS5089.1																																																																																				0.393	SLC16A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041822.2			4	123	4	123	---	---	---	---
COL10A1	1300	broad.mit.edu	37	6	116446572	116446572	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:116446572G>T	ENST00000327673.4	-	1	491	c.84C>A	c.(82-84)ccC>ccA	p.P28P	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.P28P			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	28	Nonhelical region (NC2).				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	cell cortex (GO:0005938)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TTATGCCTGTGGGCATTTGGT	0.393																																						ENST00000327673.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13						c.(82-84)ccC>ccA		collagen, type X, alpha 1							266.0	247.0	253.0					6																	116446572		2203	4300	6503	SO:0001819	synonymous_variant	1300				skeletal system development	collagen	metal ion binding	g.chr6:116446572G>T		CCDS5105.1	6q21-q22	2013-01-16	2008-07-29		ENSG00000123500	ENSG00000123500		"""Collagens"""	2185	protein-coding gene	gene with protein product	"""Schmid metaphyseal chondrodysplasia"""	120110				2037056	Standard	XM_006715332		Approved		uc003pwm.3	Q03692	OTTHUMG00000015426	ENST00000327673.4:c.84C>A	6.37:g.116446572G>T						NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Silent_p.P28P	p.P28P			Q03692	COAA1_HUMAN		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)	1	491	-		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)	28			Nonhelical region (NC2).		A1L4P2	Silent	SNP	ENST00000327673.4	37	c.84C>A	CCDS5105.1																																																																																				0.393	COL10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041926.1			7	499	7	499	---	---	---	---
FAM26E	254228	broad.mit.edu	37	6	116832984	116832984	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:116832984C>A	ENST00000368599.3	+	1	176	c.125C>A	c.(124-126)cCc>cAc	p.P42H	TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	42					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTTAAGTGCCCCTGCAGCACT	0.468																																						ENST00000368599.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(124-126)cCc>cAc		family with sequence similarity 26, member E							135.0	131.0	133.0					6																	116832984		2203	4300	6503	SO:0001583	missense	254228					integral to membrane		g.chr6:116832984C>A	BC032556	CCDS5108.1	6q22.31	2008-02-05	2007-03-19	2007-03-19	ENSG00000178033	ENSG00000178033			21568	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 188"""	C6orf188			Standard	NM_153711		Approved	dJ493F7.3, MGC45451	uc003pwy.3	Q8N5C1	OTTHUMG00000015442	ENST00000368599.3:c.125C>A	6.37:g.116832984C>A	ENSP00000357588:p.Pro42His					TRAPPC3L_ENST00000368602.3_Intron|TRAPPC3L_ENST00000356128.4_Intron	p.P42H	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)	1	176	+		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)	42					B2RDJ9|B3KSR3	Missense_Mutation	SNP	ENST00000368599.3	37	c.125C>A	CCDS5108.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.375492	0.82682	.	.	ENSG00000178033	ENST00000368599	T	0.70045	-0.45	5.63	4.77	0.60923	.	0.049043	0.85682	D	0.000000	T	0.80571	0.4648	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85236	0.1035	10	0.87932	D	0	-7.4825	13.8889	0.63726	0.0:0.9268:0.0:0.0732	.	42	Q8N5C1	FA26E_HUMAN	H	42	ENSP00000357588:P42H	ENSP00000357588:P42H	P	+	2	0	FAM26E	116939677	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.565000	0.67365	1.518000	0.48934	0.655000	0.94253	CCC		0.468	FAM26E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041956.1	NM_153711		6	224	6	224	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129785457	129785457	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:129785457G>T	ENST00000421865.2	+	50	7064	c.7015G>T	c.(7015-7017)Ggg>Tgg	p.G2339W		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2339					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGATAGTGAGGGGACTATTCA	0.418																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(7015-7017)Ggg>Tgg		laminin, alpha 2							223.0	183.0	196.0					6																	129785457		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129785457G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7015G>T	6.37:g.129785457G>T	ENSP00000400365:p.Gly2339Trp						p.G2339W	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	50	7064	+			2339					Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.7015G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848626	0.91277	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.79554	-1.28	5.87	5.87	0.94306	Concanavalin A-like lectin/glucanase (1);	0.089429	0.85682	D	0.000000	D	0.83876	0.5349	L	0.40543	1.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80970	-0.1144	9	.	.	.	.	20.1922	0.98231	0.0:0.0:1.0:0.0	.	2340;2339	A6NF00;P24043	.;LAMA2_HUMAN	W	2339;2338;2339;357	ENSP00000400365:G2339W	.	G	+	1	0	LAMA2	129827150	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.352000	0.97076	2.767000	0.95098	0.655000	0.94253	GGG		0.418	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			8	272	8	272	---	---	---	---
LAMA2	3908	broad.mit.edu	37	6	129837448	129837448	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:129837448C>A	ENST00000421865.2	+	65	9374	c.9325C>A	c.(9325-9327)Ctg>Atg	p.L3109M		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3109	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCCAAGGCCCTGGAACTGAG	0.468																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(9325-9327)Ctg>Atg		laminin, alpha 2							81.0	73.0	76.0					6																	129837448		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129837448C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.9325C>A	6.37:g.129837448C>A	ENSP00000400365:p.Leu3109Met						p.L3109M	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	65	9374	+			3109			Laminin G-like 5.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.9325C>A	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400370	0.62177	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.45668	0.89	5.79	1.07	0.20283	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.170474	0.44483	D	0.000443	T	0.36991	0.0987	L	0.51422	1.61	0.40003	D	0.975182	D;D	0.69078	0.997;0.997	D;D	0.81914	0.995;0.995	T	0.21143	-1.0254	9	.	.	.	.	6.027	0.19660	0.1309:0.4842:0.0:0.3849	.	3110;3109	A6NF00;P24043	.;LAMA2_HUMAN	M	3109;3108;3109	ENSP00000400365:L3109M	.	L	+	1	2	LAMA2	129879141	0.974000	0.33945	0.974000	0.42286	0.993000	0.82548	1.293000	0.33353	0.055000	0.16094	-0.181000	0.13052	CTG		0.468	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			4	92	4	92	---	---	---	---
CTAGE9	643854	broad.mit.edu	37	6	132030025	132030025	+	Missense_Mutation	SNP	C	C	A	rs540978239		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:132030025C>A	ENST00000314099.8	-	1	2181	c.2133G>T	c.(2131-2133)agG>agT	p.R711S	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	711	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						TGAATGGGCCCCTTGTATCCA	0.522																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(2131-2133)agG>agT		CTAGE family, member 9							25.0	25.0	25.0					6																	132030025		670	1591	2261	SO:0001583	missense	643854					integral to membrane		g.chr6:132030025C>A		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.2133G>T	6.37:g.132030025C>A	ENSP00000395587:p.Arg711Ser					ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	p.R711S	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN			1	2181	-			711			Pro-rich.			Missense_Mutation	SNP	ENST00000314099.8	37	c.2133G>T	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	10.90	1.481855	0.26598	.	.	ENSG00000236761	ENST00000314099	T	0.10382	2.88	.	.	.	.	.	.	.	.	T	0.15565	0.0375	M	0.87758	2.905	0.09310	N	1	D	0.61697	0.99	P	0.59357	0.856	T	0.04268	-1.0964	6	0.37606	T	0.19	.	.	.	.	.	711	A4FU28	CTGE9_HUMAN	S	711	ENSP00000395587:R711S	ENSP00000395587:R711S	R	-	3	2	CTAGE9	132071718	0.720000	0.27996	.	.	.	.	0.917000	0.28665	.	.	.	.	AGG		0.522	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		8	288	8	288	---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	132047228	132047228	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:132047228G>T	ENST00000414305.1	+	21	2169	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	ENPP3_ENST00000357639.3_Missense_Mutation_p.R614M|ENPP3_ENST00000358229.5_Missense_Mutation_p.R614M			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	614	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGGAGGCCTAGGGTACTGCAG	0.388																																						ENST00000414305.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(1840-1842)aGg>aTg		ectonucleotide pyrophosphatase/phosphodiesterase 3							142.0	134.0	137.0					6																	132047228		2203	4300	6503	SO:0001583	missense	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:132047228G>T	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.1841G>T	6.37:g.132047228G>T	ENSP00000406261:p.Arg614Met					ENPP3_ENST00000357639.3_Missense_Mutation_p.R614M|ENPP3_ENST00000358229.5_Missense_Mutation_p.R614M	p.R614M			O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	21	2169	+	Breast(56;0.0753)		614			Nuclease.		Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	c.1841G>T	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126528	0.56721	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000358229	T;T;T	0.75050	-0.55;-0.55;-0.9	5.4	3.52	0.40303	.	0.478199	0.21197	N	0.078530	T	0.69061	0.3069	M	0.81497	2.545	0.53005	D	0.999966	D	0.56746	0.977	P	0.49528	0.614	T	0.73646	-0.3917	10	0.66056	D	0.02	-10.5208	5.7624	0.18207	0.2297:0.0:0.6254:0.145	.	614	O14638	ENPP3_HUMAN	M	614	ENSP00000406261:R614M;ENSP00000350265:R614M;ENSP00000350964:R614M	ENSP00000350265:R614M	R	+	2	0	ENPP3	132088921	0.009000	0.17119	0.997000	0.53966	0.740000	0.42216	0.492000	0.22435	1.413000	0.46997	0.655000	0.94253	AGG		0.388	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2			5	216	5	216	---	---	---	---
KIAA1244	57221	broad.mit.edu	37	6	138583871	138583871	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:138583871G>T	ENST00000251691.4	+	12	1417	c.1251G>T	c.(1249-1251)aaG>aaT	p.K417N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CATGCATCAAGGGTGGCATCG	0.488																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(1249-1251)aaG>aaT		KIAA1244							118.0	110.0	113.0					6																	138583871		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138583871G>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1251G>T	6.37:g.138583871G>T	ENSP00000251691:p.Lys417Asn						p.K417N	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1417	+	Breast(32;0.135)		417						Missense_Mutation	SNP	ENST00000251691.4	37	c.1251G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521028	0.44866	.	.	ENSG00000112379	ENST00000251691	T	0.04275	3.66	5.82	2.02	0.26589	.	0.000000	0.85682	D	0.000000	T	0.07324	0.0185	L	0.57536	1.79	0.43160	D	0.99494	D	0.76494	0.999	D	0.78314	0.991	T	0.19224	-1.0312	10	0.37606	T	0.19	-12.5314	8.8089	0.34954	0.411:0.0:0.589:0.0	.	417	Q5TH69	BIG3_HUMAN	N	417	ENSP00000251691:K417N	ENSP00000251691:K417N	K	+	3	2	KIAA1244	138625564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.051000	0.30417	0.788000	0.33755	0.655000	0.94253	AAG		0.488	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		5	199	5	199	---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142736944	142736944	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:142736944G>T	ENST00000230173.6	+	20	3157	c.2681G>T	c.(2680-2682)aGg>aTg	p.R894M	GPR126_ENST00000367609.3_Missense_Mutation_p.R894M|GPR126_ENST00000367608.2_Missense_Mutation_p.R866M|GPR126_ENST00000296932.8_Missense_Mutation_p.R866M	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	894					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAATTGCGAAGGGATTATCCC	0.393																																						ENST00000230173.6																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(2680-2682)aGg>aTg		G protein-coupled receptor 126							86.0	81.0	83.0					6																	142736944		1861	4109	5970	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142736944G>T	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2681G>T	6.37:g.142736944G>T	ENSP00000230173:p.Arg894Met					GPR126_ENST00000367609.3_Missense_Mutation_p.R894M|GPR126_ENST00000367608.2_Missense_Mutation_p.R866M|GPR126_ENST00000296932.8_Missense_Mutation_p.R866M	p.R894M	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	20	3157	+	Breast(32;0.176)		894					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.2681G>T	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168535	0.78339	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.86	5.86	0.93980	GPCR, family 2-like (1);	0.073532	0.64402	D	0.000019	T	0.70378	0.3217	M	0.90870	3.155	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.76329	-0.2999	10	0.87932	D	0	.	20.1883	0.98225	0.0:0.0:1.0:0.0	.	866;894;866;894	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	M	894;866;866;894	ENSP00000230173:R894M;ENSP00000356580:R866M;ENSP00000296932:R866M;ENSP00000356581:R894M	ENSP00000230173:R894M	R	+	2	0	GPR126	142778637	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.412000	0.73303	2.776000	0.95493	0.650000	0.86243	AGG		0.393	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			5	203	5	203	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146276179	146276179	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:146276179G>T	ENST00000367505.2	-	2	544	c.280C>A	c.(280-282)Cct>Act	p.P94T	SHPRH_ENST00000275233.7_Missense_Mutation_p.P94T|SHPRH_ENST00000367503.3_Missense_Mutation_p.P94T|SHPRH_ENST00000438092.2_Missense_Mutation_p.P94T			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	94					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ACAGACAAAGGGGAAAAAATA	0.363																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(280-282)Cct>Act		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase							114.0	106.0	108.0					6																	146276179		1811	4077	5888	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146276179G>T	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.280C>A	6.37:g.146276179G>T	ENSP00000356475:p.Pro94Thr					SHPRH_ENST00000438092.2_Missense_Mutation_p.P94T|SHPRH_ENST00000275233.7_Missense_Mutation_p.P94T|SHPRH_ENST00000367505.2_Missense_Mutation_p.P94T	p.P94T	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	678	-		Ovarian(120;0.0365)	94					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.280C>A	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	G	9.443	1.088565	0.20390	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.66	0.371	0.16168	.	0.595355	0.16175	N	0.226085	T	0.33904	0.0879	L	0.50333	1.59	0.09310	N	1	B;B	0.20261	0.025;0.043	B;B	0.26770	0.033;0.073	T	0.40776	-0.9545	10	0.48119	T	0.1	-2.306	8.4833	0.33057	0.3213:0.1114:0.5673:0.0	.	94;94	Q149N8;Q149N8-4	SHPRH_HUMAN;.	T	94	ENSP00000356475:P94T;ENSP00000356473:P94T;ENSP00000412797:P94T;ENSP00000275233:P94T	ENSP00000275233:P94T	P	-	1	0	SHPRH	146317872	0.135000	0.22499	0.003000	0.11579	0.678000	0.39670	0.442000	0.21628	0.131000	0.18576	0.655000	0.94253	CCT		0.363	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		6	311	6	311	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151161652	151161652	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:151161652C>A	ENST00000358517.2	+	16	3989	c.3778C>A	c.(3778-3780)Caa>Aaa	p.Q1260K	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.Q1260K			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1260							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTTAAATGCCCAAATTGCAAC	0.403																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(3778-3780)Caa>Aaa		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							76.0	76.0	76.0					6																	151161652		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161652C>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3778C>A	6.37:g.151161652C>A	ENSP00000351318:p.Gln1260Lys					PLEKHG1_ENST00000358517.2_Missense_Mutation_p.Q1260K	p.Q1260K	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	4090	+			1260					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.3778C>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	19.28	3.796768	0.70567	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.61158	0.13;0.13	5.46	5.46	0.80206	.	0.111726	0.64402	D	0.000007	T	0.47469	0.1447	M	0.66939	2.045	0.48901	D	0.999724	P;P	0.39665	0.682;0.546	B;B	0.32980	0.156;0.156	T	0.59783	-0.7389	10	0.72032	D	0.01	.	19.6629	0.95879	0.0:1.0:0.0:0.0	.	1067;1260	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	K	1260	ENSP00000356297:Q1260K;ENSP00000351318:Q1260K	ENSP00000351318:Q1260K	Q	+	1	0	PLEKHG1	151203345	1.000000	0.71417	0.999000	0.59377	0.923000	0.55619	5.606000	0.67641	2.726000	0.93360	0.655000	0.94253	CAA		0.403	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			5	174	5	174	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152708417	152708417	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:152708417G>T	ENST00000367255.5	-	54	8878	c.8277C>A	c.(8275-8277)ccC>ccA	p.P2759P	SYNE1_ENST00000341594.5_Silent_p.P2798P|SYNE1_ENST00000265368.4_Silent_p.P2759P|SYNE1_ENST00000423061.1_Silent_p.P2766P|SYNE1_ENST00000448038.1_Silent_p.P2766P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2759					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGGTTGTAAGGGATGTTCTA	0.478										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8275-8277)ccC>ccA		spectrin repeat containing, nuclear envelope 1							263.0	228.0	240.0					6																	152708417		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152708417G>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8277C>A	6.37:g.152708417G>T		HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Silent_p.P2766P|SYNE1_ENST00000448038.1_Silent_p.P2766P|SYNE1_ENST00000341594.5_Silent_p.P2798P|SYNE1_ENST00000265368.4_Silent_p.P2759P	p.P2759P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	54	8878	-		Ovarian(120;0.0955)	2759					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.8277C>A	CCDS5236.2																																																																																				0.478	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	239	6	239	---	---	---	---
LPAL2	80350	broad.mit.edu	37	6	160905230	160905230	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:160905230G>T	ENST00000335388.5	-	0	897					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		GTAACACCAAGGGCCTTCCAC	0.498																																						ENST00000335388.5																			0				large_intestine(1)|lung(4)	5																																														80350							g.chr6:160905230G>T	U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160905230G>T								NR_028092.1					OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	0	897	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)						E1P5B4	RNA	SNP	ENST00000335388.5	37																																																																																						0.498	LPAL2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000042950.1	NM_024492		4	82	4	82	---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170627813	170627813	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr6:170627813C>A	ENST00000476287.1	+	2	1443	c.1335C>A	c.(1333-1335)ccC>ccA	p.P445P	FAM120B_ENST00000537664.1_Silent_p.P468P|FAM120B_ENST00000540480.1_Silent_p.P457P|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	445					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		ACTCTGAACCCAGGCAAGAAG	0.498																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1333-1335)ccC>ccA		family with sequence similarity 120B							179.0	200.0	193.0					6																	170627813		2203	4300	6503	SO:0001819	synonymous_variant	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170627813C>A	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1335C>A	6.37:g.170627813C>A						FAM120B_ENST00000537664.1_Silent_p.P468P|FAM120B_ENST00000540480.1_Silent_p.P457P|FAM120B_ENST00000252510.9_Intron	p.P445P	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	2	1443	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	445					B4DL34|Q86V68|Q96JI9	Silent	SNP	ENST00000476287.1	37	c.1335C>A	CCDS5314.1																																																																																				0.498	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		7	568	7	568	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2985561	2985561	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:2985561C>A	ENST00000396946.4	-	4	653	c.250G>T	c.(250-252)Ggg>Tgg	p.G84W	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	84	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCCCTTTGCCCCTTGGTATGT	0.493			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(250-252)Ggg>Tgg		caspase recruitment domain family, member 11							166.0	170.0	168.0					7																	2985561		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2985561C>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.250G>T	7.37:g.2985561C>A	ENSP00000380150:p.Gly84Trp					AC004906.3_ENST00000423194.1_RNA	p.G84W	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	4	653	-		Ovarian(82;0.0115)	84			CARD.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.250G>T	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820555	0.90873	.	.	ENSG00000198286	ENST00000396946	T	0.55413	0.52	5.42	5.42	0.78866	DEATH-like (2);Caspase Recruitment (2);	0.048483	0.85682	D	0.000000	T	0.77136	0.4086	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80850	-0.1198	10	0.87932	D	0	-53.868	19.2521	0.93929	0.0:1.0:0.0:0.0	.	84	Q9BXL7	CAR11_HUMAN	W	84	ENSP00000380150:G84W	ENSP00000380150:G84W	G	-	1	0	CARD11	2952087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.342000	0.79310	2.542000	0.85734	0.655000	0.94253	GGG		0.493	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		6	386	6	386	---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7557428	7557428	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:7557428C>A	ENST00000399429.3	-	7	994	c.854G>T	c.(853-855)gGg>gTg	p.G285V		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	285					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGTACATACCCCTGGACCTCT	0.433																																						ENST00000399429.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(853-855)gGg>gTg		collagen, type XXVIII, alpha 1							201.0	194.0	196.0					7																	7557428		1875	4116	5991	SO:0001630	splice_region_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7557428C>A	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.855+1G>T	7.37:g.7557428C>A							p.G285V	NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	7	994	-		Ovarian(82;0.0789)	285					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Splice_Site	SNP	ENST00000399429.3	37	c.854G>T	CCDS43553.1	.	.	.	.	.	.	.	.	.	.	C	3.971	-0.008402	0.07727	.	.	ENSG00000215018	ENST00000399429;ENST00000399419;ENST00000448652	D	0.91631	-2.88	3.8	-0.292	0.12839	.	1.902390	0.03505	N	0.218727	T	0.75162	0.3812	N	0.00801	-1.175	0.35149	D	0.769626	B	0.10296	0.003	B	0.09377	0.004	T	0.67110	-0.5753	10	0.34782	T	0.22	2.2101	3.0593	0.06195	0.3875:0.3932:0.0:0.2193	.	285	Q2UY09	COSA1_HUMAN	V	285	ENSP00000382356:G285V	ENSP00000382347:G285V	G	-	2	0	COL28A1	7523953	0.996000	0.38824	0.410000	0.26471	0.493000	0.33554	0.295000	0.19065	-0.057000	0.13199	0.655000	0.94253	GGG		0.433	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	Missense_Mutation	7	349	7	349	---	---	---	---
C7orf31	136895	broad.mit.edu	37	7	25194743	25194743	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:25194743G>T	ENST00000409280.1	-	6	790	c.482C>A	c.(481-483)cCc>cAc	p.P161H	C7orf31_ENST00000283905.3_Missense_Mutation_p.P161H			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	161										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CGTGAAGGTGGGGAACATGGC	0.502																																						ENST00000409280.1																			0				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						c.(481-483)cCc>cAc		chromosome 7 open reading frame 31							124.0	128.0	127.0					7																	25194743		2203	4300	6503	SO:0001583	missense	136895							g.chr7:25194743G>T	AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.482C>A	7.37:g.25194743G>T	ENSP00000386604:p.Pro161His					C7orf31_ENST00000283905.3_Missense_Mutation_p.P161H	p.P161H			Q8N865	CG031_HUMAN			6	790	-			161					A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	ENST00000409280.1	37	c.482C>A	CCDS5394.1	.	.	.	.	.	.	.	.	.	.	g	14.88	2.668411	0.47677	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.27402	1.67;1.67	5.47	4.59	0.56863	.	0.000000	0.64402	D	0.000016	T	0.53206	0.1782	M	0.74258	2.255	0.41542	D	0.988521	D	0.89917	1.0	D	0.83275	0.996	T	0.57625	-0.7779	10	0.87932	D	0	-18.7995	10.4839	0.44711	0.0899:0.0:0.9101:0.0	.	161	Q8N865	CG031_HUMAN	H	161	ENSP00000386604:P161H;ENSP00000283905:P161H	ENSP00000283905:P161H	P	-	2	0	C7orf31	25161268	1.000000	0.71417	0.893000	0.35052	0.108000	0.19459	4.472000	0.60189	1.323000	0.45263	0.563000	0.77884	CCC		0.502	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326929.1	NM_138811		4	79	4	79	---	---	---	---
FKBP14	55033	broad.mit.edu	37	7	30065991	30065991	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:30065991C>A	ENST00000222803.5	-	1	309	c.134G>T	c.(133-135)gGg>gTg	p.G45V	AC007285.6_ENST00000422239.1_RNA|PLEKHA8_ENST00000449726.1_5'Flank|AC007285.6_ENST00000419103.1_RNA|PLEKHA8_ENST00000396259.1_5'Flank|PLEKHA8_ENST00000396257.2_5'Flank|PLEKHA8_ENST00000258679.7_5'Flank	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	45	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						CATCAAATCCCCTCCTTTGGT	0.433																																						ENST00000222803.5																			0				breast(1)|large_intestine(2)|lung(2)	5						c.(133-135)gGg>gTg		FK506 binding protein 14, 22 kDa							151.0	148.0	149.0					7																	30065991		2203	4300	6503	SO:0001583	missense	55033				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr7:30065991C>A	AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.134G>T	7.37:g.30065991C>A	ENSP00000222803:p.Gly45Val						p.G45V	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN			1	309	-			45			PPIase FKBP-type.			Missense_Mutation	SNP	ENST00000222803.5	37	c.134G>T	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	C	34	5.340964	0.95783	.	.	ENSG00000106080	ENST00000222803	T	0.57595	0.39	6.08	6.08	0.98989	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	T	0.80539	0.4642	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83948	0.0315	10	0.87932	D	0	-13.9744	19.2359	0.93858	0.0:1.0:0.0:0.0	.	45	Q9NWM8	FKB14_HUMAN	V	45	ENSP00000222803:G45V	ENSP00000222803:G45V	G	-	2	0	FKBP14	30032516	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.894000	0.99253	0.591000	0.81541	GGG		0.433	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946		6	273	6	273	---	---	---	---
AVL9	23080	broad.mit.edu	37	7	32582773	32582773	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:32582773C>A	ENST00000318709.4	+	2	335	c.114C>A	c.(112-114)ccC>ccA	p.P38P	AVL9_ENST00000404479.1_Silent_p.P38P|AVL9_ENST00000409301.1_Silent_p.P38P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	38					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTTACCCGCCCCTGATTCCAG	0.423																																						ENST00000318709.4																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(112-114)ccC>ccA		AVL9 homolog (S. cerevisiase)							209.0	193.0	198.0					7																	32582773		2203	4300	6503	SO:0001819	synonymous_variant	23080					integral to membrane		g.chr7:32582773C>A	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.114C>A	7.37:g.32582773C>A						AVL9_ENST00000409301.1_Silent_p.P38P|AVL9_ENST00000404479.1_Silent_p.P38P	p.P38P	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN			2	335	+			38					Q92573	Silent	SNP	ENST00000318709.4	37	c.114C>A	CCDS34613.1																																																																																				0.423	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		8	342	8	342	---	---	---	---
HERPUD2	64224	broad.mit.edu	37	7	35674969	35674969	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:35674969G>T	ENST00000396081.1	-	6	1521	c.717C>A	c.(715-717)ccC>ccA	p.P239P	HERPUD2_ENST00000311350.3_Silent_p.P239P|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	239					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GAGCTGGTGGGGGTTCTTCTC	0.473																																						ENST00000396081.1																			0				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						c.(715-717)ccC>ccA		HERPUD family member 2							151.0	154.0	153.0					7																	35674969		2203	4300	6503	SO:0001819	synonymous_variant	64224				response to unfolded protein	integral to membrane		g.chr7:35674969G>T	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.717C>A	7.37:g.35674969G>T						HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.P239P	p.P239P	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN			6	1521	-			239					A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	c.717C>A	CCDS5446.1																																																																																				0.473	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373		7	327	7	327	---	---	---	---
WBSCR28	135886	broad.mit.edu	37	7	73279465	73279465	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:73279465C>A	ENST00000320531.2	+	2	251	c.215C>A	c.(214-216)cCc>cAc	p.P72H		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	72						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCAGCCTGCCCCCTGGGCCAG	0.667																																						ENST00000320531.2																			0				breast(2)|kidney(2)|lung(6)|skin(1)	11						c.(214-216)cCc>cAc		Williams-Beuren syndrome chromosome region 28							62.0	69.0	67.0					7																	73279465		1859	4091	5950	SO:0001583	missense	135886					integral to membrane		g.chr7:73279465C>A	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.215C>A	7.37:g.73279465C>A	ENSP00000316775:p.Pro72His						p.P72H	NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN			2	251	+		Lung NSC(55;0.159)	72					Q6UE04|Q8NHP4	Missense_Mutation	SNP	ENST00000320531.2	37	c.215C>A	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595956	0.46318	.	.	ENSG00000175877	ENST00000320531	T	0.21543	2.0	4.43	2.56	0.30785	.	0.352367	0.20963	N	0.082523	T	0.27454	0.0674	L	0.32530	0.975	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.04165	-1.0972	10	0.87932	D	0	-5.5271	6.1976	0.20557	0.0:0.7085:0.1878:0.1037	.	72	Q6UE05	WBS28_HUMAN	H	72	ENSP00000316775:P72H	ENSP00000316775:P72H	P	+	2	0	WBSCR28	72917401	0.001000	0.12720	0.006000	0.13384	0.148000	0.21650	1.083000	0.30815	0.487000	0.27698	0.555000	0.69702	CCC		0.667	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		8	198	8	198	---	---	---	---
LAT2	7462	broad.mit.edu	37	7	73635998	73635998	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:73635998G>T	ENST00000460943.1	+	10	1253	c.364G>T	c.(364-366)Ggg>Tgg	p.G122W	LAT2_ENST00000398475.1_Missense_Mutation_p.G122W|LAT2_ENST00000344995.5_Missense_Mutation_p.G122W|LAT2_ENST00000275635.7_Missense_Mutation_p.G122W	NM_032464.2	NP_115853.2	Q9UHI5	LAT2_HUMAN	linker for activation of T cells family, member 2	0					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6					L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TTACAACTGGGGGCGGTTCTC	0.577																																						ENST00000460943.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(364-366)Ggg>Tgg		linker for activation of T cells family, member 2							104.0	111.0	109.0					7																	73635998		1864	4093	5957	SO:0001583	missense	7462				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	g.chr7:73635998G>T	AF257135	CCDS5566.2	7q11.23	2011-11-01	2005-04-26	2005-04-26	ENSG00000086730	ENSG00000086730			12749	protein-coding gene	gene with protein product	"""linker for activation of B cells"", ""non-T cell activation linker"", ""linker for activation of T cells, transmembrane adaptor 2"""	605719	"""Williams-Beuren syndrome chromosome region 5"""	WBSCR15, WBSCR5		8812460, 12514734	Standard	NM_032464		Approved	WSCR5, HSPC046, LAB, NTAL	uc003uai.3	Q9GZY6	OTTHUMG00000130151	ENST00000460943.1:c.364G>T	7.37:g.73635998G>T	ENSP00000420494:p.Gly122Trp					LAT2_ENST00000275635.7_Missense_Mutation_p.G122W|LAT2_ENST00000344995.5_Missense_Mutation_p.G122W|LAT2_ENST00000398475.1_Missense_Mutation_p.G122W	p.G122W	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN			10	1253	+			122					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000460943.1	37	c.364G>T	CCDS5566.2	.	.	.	.	.	.	.	.	.	.	G	16.06	3.015202	0.54468	.	.	ENSG00000086730	ENST00000344995;ENST00000460943;ENST00000398475;ENST00000275635	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	3.5	3.5	0.40072	.	0.391487	0.19555	N	0.111476	T	0.11750	0.0286	L	0.32530	0.975	0.28751	N	0.901425	D	0.89917	1.0	D	0.83275	0.996	T	0.01133	-1.1441	10	0.87932	D	0	-29.9123	10.8031	0.46500	0.0:0.0:1.0:0.0	.	122	Q9GZY6	NTAL_HUMAN	W	122	ENSP00000344881:G122W;ENSP00000420494:G122W;ENSP00000381492:G122W;ENSP00000275635:G122W	ENSP00000275635:G122W	G	+	1	0	LAT2	73273934	0.926000	0.31397	0.506000	0.27664	0.035000	0.12851	1.571000	0.36450	2.249000	0.74217	0.561000	0.74099	GGG		0.577	LAT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277062.1			5	187	5	187	---	---	---	---
RFC2	5982	broad.mit.edu	37	7	73661093	73661093	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:73661093C>A	ENST00000055077.3	-	5	393	c.333G>T	c.(331-333)agG>agT	p.R111S	RFC2_ENST00000352131.3_Intron	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	111					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						CGTCAATGCCCCTGAAAGAAT	0.418																																						ENST00000055077.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						c.(331-333)agG>agT		replication factor C (activator 1) 2, 40kDa							120.0	111.0	114.0					7																	73661093		2203	4300	6503	SO:0001630	splice_region_variant	5982				cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	g.chr7:73661093C>A		CCDS5567.1, CCDS5568.1, CCDS75618.1	7q11.23	2010-04-21	2002-08-29		ENSG00000049541	ENSG00000049541		"""ATPases / AAA-type"""	9970	protein-coding gene	gene with protein product	"""activator 1"""	600404	"""replication factor C (activator 1) 2 (40kD)"""			1313560, 7774928	Standard	NM_181471		Approved	A1, RFC40	uc003uaj.3	P35250	OTTHUMG00000023239	ENST00000055077.3:c.333-1G>T	7.37:g.73661093C>A						RFC2_ENST00000352131.3_Intron	p.R111S	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN			5	393	-			111					B5BU07|D3DXG3|P32846|Q9BU93	Splice_Site	SNP	ENST00000055077.3	37	c.333G>T	CCDS5568.1	.	.	.	.	.	.	.	.	.	.	c	18.21	3.572926	0.65765	.	.	ENSG00000049541	ENST00000055077	T	0.45668	0.89	5.12	3.31	0.37934	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.055382	0.85682	D	0.000000	T	0.62146	0.2404	M	0.83012	2.62	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.62849	-0.6767	10	0.87932	D	0	.	7.4122	0.27023	0.0:0.6668:0.0:0.3332	.	111	P35250	RFC2_HUMAN	S	111	ENSP00000055077:R111S	ENSP00000055077:R111S	R	-	3	2	RFC2	73299029	0.987000	0.35691	1.000000	0.80357	0.886000	0.51366	0.241000	0.18065	0.678000	0.31325	-0.170000	0.13304	AGG		0.418	RFC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252459.2	NM_181471	Missense_Mutation	5	181	5	181	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82545722	82545722	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:82545722G>T	ENST00000333891.9	-	7	11917	c.11580C>A	c.(11578-11580)ccC>ccA	p.P3860P	PCLO_ENST00000423517.2_Silent_p.P3860P|PCLO_ENST00000437081.1_Silent_p.P580P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTCAGTTTGGGGAGCAGTTC	0.463																																						ENST00000333891.9																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11578-11580)ccC>ccA		piccolo presynaptic cytomatrix protein							405.0	400.0	402.0					7																	82545722		2017	4187	6204	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545722G>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11580C>A	7.37:g.82545722G>T						PCLO_ENST00000437081.1_Silent_p.P580P|PCLO_ENST00000423517.2_Silent_p.P3860P	p.P3860P	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN			7	11917	-						Gln-rich.			Silent	SNP	ENST00000333891.9	37	c.11580C>A	CCDS47630.1																																																																																				0.463	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	496	10	496	---	---	---	---
CPSF4	10898	broad.mit.edu	37	7	99051673	99051673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:99051673C>A	ENST00000292476.5	+	7	665	c.655C>A	c.(655-657)Ccg>Acg	p.P219T	CPSF4_ENST00000451876.1_Missense_Mutation_p.P161T|CPSF4_ENST00000441580.1_Missense_Mutation_p.P141T|CPSF4_ENST00000436336.2_Missense_Mutation_p.P194T|ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000466753.1_Intron			O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	219					modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA processing (GO:0006397)|viral life cycle (GO:0019058)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P219T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAGAGAACCCCGCAGGTCAT	0.557																																						ENST00000436336.2																			1	Substitution - Missense(1)	p.P219T(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14						c.(580-582)Ccg>Acg		cleavage and polyadenylation specific factor 4, 30kDa							155.0	168.0	163.0					7																	99051673		2203	4300	6503	SO:0001583	missense	10898				modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	g.chr7:99051673C>A		CCDS5664.1, CCDS47652.1	7q22	2007-10-18	2002-08-29		ENSG00000160917	ENSG00000160917			2327	protein-coding gene	gene with protein product		603052	"""cleavage and polyadenylation specific factor 4, 30kD subunit"""			9651582, 9224719	Standard	NM_006693		Approved	NAR, CPSF30	uc003uqj.3	O95639	OTTHUMG00000154599	ENST00000292476.5:c.655C>A	7.37:g.99051673C>A	ENSP00000292476:p.Pro219Thr					CPSF4_ENST00000451876.1_Missense_Mutation_p.P161T|CPSF4_ENST00000441580.1_Missense_Mutation_p.P141T|ATP5J2-PTCD1_ENST00000413834.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Missense_Mutation_p.P219T|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2_ENST00000466753.1_Intron	p.P194T	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN			7	741	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		219					D6W5S8|Q6FGE6|Q86TF8|Q9BTW6	Missense_Mutation	SNP	ENST00000292476.5	37	c.580C>A	CCDS5664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.98|14.98	2.697344|2.697344	0.48202|0.48202	.|.	.|.	ENSG00000160917|ENSG00000160917	ENST00000440514|ENST00000436336;ENST00000451876;ENST00000292476;ENST00000441580	.|T;T;T;T	.|0.29655	.|1.98;1.93;1.94;1.56	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.151008|0.151008	0.64402|0.64402	D|D	0.000014|0.000014	T|T	0.24661|0.24661	0.0598|0.0598	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999994|0.999994	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.001;0.001	.|B;B;B;B	.|0.08055	.|0.0;0.001;0.003;0.001	T|T	0.07424|0.07424	-1.0773|-1.0773	6|10	.|0.14656	.|T	.|0.56	-14.7418|-14.7418	19.7534|19.7534	0.96277|0.96277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|141;193;219;194	.|B7Z7B0;O95639-3;O95639;O95639-2	.|.;.;CPSF4_HUMAN;.	H|T	100|194;161;219;141	.|ENSP00000395311:P194T;ENSP00000396060:P161T;ENSP00000292476:P219T;ENSP00000402224:P141T	.|ENSP00000292476:P219T	P|P	+|+	2|1	0|0	CPSF4|CPSF4	98889609|98889609	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.841000|0.841000	0.47740|0.47740	5.076000|5.076000	0.64413|0.64413	2.686000|2.686000	0.91538|0.91538	0.655000|0.655000	0.94253|0.94253	CCC|CCG		0.557	CPSF4-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336254.1			8	367	8	367	---	---	---	---
ZNF789	285989	broad.mit.edu	37	7	99084289	99084289	+	Missense_Mutation	SNP	G	G	T	rs139820028		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:99084289G>T	ENST00000331410.5	+	5	726	c.456G>T	c.(454-456)agG>agT	p.R152S	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AATACAGCAGGGGCTTCCTTC	0.413																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(454-456)agG>agT		zinc finger protein 789							94.0	93.0	93.0					7																	99084289		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084289G>T	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.456G>T	7.37:g.99084289G>T	ENSP00000331927:p.Arg152Ser					ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_3'UTR	p.R152S	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	726	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		152					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.456G>T	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306289	0.23736	.	.	ENSG00000198556	ENST00000331410	T	0.04809	3.55	2.56	-0.273	0.12915	.	.	.	.	.	T	0.06050	0.0157	L	0.59967	1.855	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.32107	-0.9919	9	0.72032	D	0.01	.	6.6381	0.22895	0.372:0.0:0.628:0.0	.	152	Q5FWF6	ZN789_HUMAN	S	152	ENSP00000331927:R152S	ENSP00000331927:R152S	R	+	3	2	ZNF789	98922225	0.000000	0.05858	0.002000	0.10522	0.151000	0.21798	0.329000	0.19698	-0.077000	0.12752	-0.781000	0.03364	AGG		0.413	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		5	191	5	191	---	---	---	---
ZNF394	84124	broad.mit.edu	37	7	99091246	99091246	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:99091246C>A	ENST00000337673.6	-	3	1795	c.1592G>T	c.(1591-1593)gGg>gTg	p.G531V	ZNF394_ENST00000394177.3_5'Flank|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	531					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAATCTTTCCCCACATTCAAG	0.458																																					Ovarian(24;589 697 9939 12704 40742)	ENST00000337673.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16						c.(1591-1593)gGg>gTg		zinc finger protein 394							182.0	177.0	179.0					7																	99091246		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99091246C>A	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1592G>T	7.37:g.99091246C>A	ENSP00000337363:p.Gly531Val					ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000426306.2_3'UTR	p.G531V	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN			3	1795	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		531					A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.1592G>T	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095730	0.76870	.	.	ENSG00000160908	ENST00000337673	T	0.06294	3.32	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000191	T	0.29716	0.0742	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.24693	-1.0153	10	0.72032	D	0.01	.	13.493	0.61407	0.0:1.0:0.0:0.0	.	531	Q53GI3	ZN394_HUMAN	V	531	ENSP00000337363:G531V	ENSP00000337363:G531V	G	-	2	0	ZNF394	98929182	0.969000	0.33509	0.999000	0.59377	0.999000	0.98932	2.301000	0.43628	2.292000	0.77174	0.655000	0.94253	GGG		0.458	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		6	391	6	391	---	---	---	---
ZKSCAN5	23660	broad.mit.edu	37	7	99117481	99117481	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:99117481C>A	ENST00000394170.2	+	4	836	c.585C>A	c.(583-585)ccC>ccA	p.P195P	ZKSCAN5_ENST00000451158.1_Silent_p.P195P|ZKSCAN5_ENST00000326775.5_Silent_p.P195P	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTTCCCTTCCCCTGAAGGACA	0.532																																						ENST00000394170.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(583-585)ccC>ccA		zinc finger with KRAB and SCAN domains 5							104.0	94.0	97.0					7																	99117481		2203	4300	6503	SO:0001819	synonymous_variant	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99117481C>A	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.585C>A	7.37:g.99117481C>A						ZKSCAN5_ENST00000326775.5_Silent_p.P195P|ZKSCAN5_ENST00000451158.1_Silent_p.P195P	p.P195P	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN			4	836	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		195					A4D280|D6W5S9	Silent	SNP	ENST00000394170.2	37	c.585C>A	CCDS5667.1																																																																																				0.532	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		5	136	5	136	---	---	---	---
AGFG2	3268	broad.mit.edu	37	7	100151028	100151028	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100151028C>A	ENST00000300176.4	+	4	612	c.490C>A	c.(490-492)Cct>Act	p.P164T	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	164					regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCCTCCACCCCTGTGCAGGG	0.552																																						ENST00000300176.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(490-492)Cct>Act		ArfGAP with FG repeats 2							94.0	95.0	95.0					7																	100151028		2203	4300	6503	SO:0001583	missense	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100151028C>A	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.490C>A	7.37:g.100151028C>A	ENSP00000300176:p.Pro164Thr					AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	p.P164T	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			4	612	+			164					O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	c.490C>A	CCDS5697.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879952	0.51801	.	.	ENSG00000106351	ENST00000300176	T	0.25250	1.81	5.0	2.18	0.27775	.	0.121122	0.64402	D	0.000018	T	0.37100	0.0991	L	0.57536	1.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.23048	-1.0199	10	0.22109	T	0.4	-36.0199	4.4995	0.11856	0.0:0.572:0.1641:0.2639	.	164	O95081	AGFG2_HUMAN	T	164	ENSP00000300176:P164T	ENSP00000300176:P164T	P	+	1	0	AGFG2	99988964	0.349000	0.24870	0.950000	0.38849	0.896000	0.52359	0.656000	0.24948	0.389000	0.25086	0.644000	0.83932	CCT		0.552	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		5	183	5	183	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100352869	100352869	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100352869C>A	ENST00000348028.3	+	0	3310				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCAAATGCCCGCTACGAATC	0.572																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							128.0	134.0	132.0					7																	100352869		1961	4140	6101			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100352869C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100352869C>A						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3293	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	12.33	1.904476	0.33628	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	D;D;D	0.90444	-2.67;-2.67;-2.67	4.86	4.86	0.63082	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.179933	0.27245	N	0.020245	T	0.81545	0.4845	N	0.05158	-0.105	0.80722	D	1	B;B	0.25486	0.104;0.127	B;B	0.28916	0.058;0.096	T	0.79617	-0.1729	10	0.51188	T	0.08	.	14.2135	0.65779	0.0:1.0:0.0:0.0	.	1049;1049	F5H0T8;Q9Y493	.;ZAN_HUMAN	S	1049	ENSP00000445943:R1049S;ENSP00000445091:R1049S;ENSP00000444427:R1049S	ENSP00000423579:R1049S	R	+	1	0	ZAN	100190805	1.000000	0.71417	0.496000	0.27539	0.060000	0.15804	5.970000	0.70431	2.609000	0.88269	0.651000	0.88453	CGC		0.572	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		8	319	8	319	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100549663	100549663	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100549663C>A	ENST00000379458.4	+	2	244	c.244C>A	c.(244-246)Ccc>Acc	p.P82T	MUC3A_ENST00000319509.7_5'Flank|MUC3A_ENST00000483366.1_3'UTR			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	82	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CACTACCTCCCCCCATGACAC	0.557																																						ENST00000379458.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(244-246)Ccc>Acc		mucin 3A, cell surface associated							174.0	157.0	162.0					7																	100549663		876	1991	2867	SO:0001583	missense	4584							g.chr7:100549663C>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000379458.4:c.244C>A	7.37:g.100549663C>A	ENSP00000368771:p.Pro82Thr					MUC3A_ENST00000483366.1_3'UTR	p.P82T							2	244	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000379458.4	37	c.244C>A		.	.	.	.	.	.	.	.	.	.	C	6.279	0.419609	0.11928	.	.	ENSG00000228273	ENST00000379458	.	.	.	1.67	-0.31	0.12765	.	.	.	.	.	T	0.18718	0.0449	N	0.19112	0.55	.	.	.	.	.	.	.	.	.	T	0.28038	-1.0056	5	0.23302	T	0.38	.	2.31	0.04184	0.2959:0.5137:0.0:0.1904	.	.	.	.	T	82	.	ENSP00000368771:P82T	P	+	1	0	AC118759.1	100387599	0.000000	0.05858	0.042000	0.18584	0.032000	0.12392	-0.915000	0.04033	-0.102000	0.12197	-0.698000	0.03680	CCC		0.557	MUC3A-201	NOVEL	basic|appris_principal	protein_coding	protein_coding		XM_001725354		5	163	5	163	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100675141	100675141	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:100675141C>A	ENST00000306151.4	+	3	508	c.444C>A	c.(442-444)ccC>ccA	p.P148P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	148	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCGACGTGCCCATGTCAACAC	0.458																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(442-444)ccC>ccA		mucin 17, cell surface associated							197.0	176.0	183.0					7																	100675141		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675141C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.444C>A	7.37:g.100675141C>A							p.P148P	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	508	+	Lung NSC(181;0.136)|all_lung(186;0.182)		148			Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.444C>A	CCDS34711.1																																																																																				0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	318	7	318	---	---	---	---
COG5	10466	broad.mit.edu	37	7	107188737	107188737	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:107188737C>A	ENST00000347053.3	-	4	476	c.426G>T	c.(424-426)caG>caT	p.Q142H	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.Q142H|COG5_ENST00000393603.2_Missense_Mutation_p.Q142H	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	142					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CAACAGCTCCCTGTAAAGCCC	0.348																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(424-426)caG>caT		component of oligomeric golgi complex 5							159.0	170.0	167.0					7																	107188737		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107188737C>A	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.426G>T	7.37:g.107188737C>A	ENSP00000334703:p.Gln142His					COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.Q142H|COG5_ENST00000347053.3_Missense_Mutation_p.Q142H	p.Q142H	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			4	697	-			142					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.426G>T	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.817949	0.50633	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.20881	2.04;2.04;2.04	5.41	2.65	0.31530	.	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.72118	2.19	0.47994	D	0.999566	P;D	0.76494	0.906;0.999	P;D	0.69479	0.626;0.964	T	0.23440	-1.0188	10	0.15499	T	0.54	-7.7702	7.6307	0.28238	0.0:0.5931:0.0:0.4069	.	142;142	Q9UP83;Q9UP83-2	COG5_HUMAN;.	H	142	ENSP00000334703:Q142H;ENSP00000297135:Q142H;ENSP00000377228:Q142H	ENSP00000297135:Q142H	Q	-	3	2	COG5	106975973	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.388000	0.20735	0.361000	0.24292	0.655000	0.94253	CAG		0.348	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			8	459	8	459	---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107395935	107395935	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:107395935G>T	ENST00000440859.3	+	5	906	c.439G>T	c.(439-441)Ggc>Tgc	p.G147C	CBLL1_ENST00000222597.2_Splice_Site_p.G146C|CBLL1_ENST00000415884.2_Intron	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	147					negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GATGTGTCCAGGGTAAGATAA	0.313																																						ENST00000440859.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(439-441)Ggc>Tgc		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							106.0	111.0	109.0					7																	107395935		2203	4297	6500	SO:0001630	splice_region_variant	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107395935G>T	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.440+1G>T	7.37:g.107395935G>T						CBLL1_ENST00000222597.2_Splice_Site_p.G146C|CBLL1_ENST00000415884.2_Intron	p.G147C	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN			5	906	+								B7ZM03|Q8TAJ4|Q9H5S6	Splice_Site	SNP	ENST00000440859.3	37	c.439G>T	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.903051	0.92035	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.33216	1.43;1.42;1.45	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.110191	0.64402	D	0.000009	T	0.55577	0.1929	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48822	-0.9001	10	0.44086	T	0.13	-2.0179	19.6375	0.95740	0.0:0.0:1.0:0.0	.	146;147	B7ZM03;Q75N03	.;HAKAI_HUMAN	C	147;26;146;97;93	ENSP00000401277:G147C;ENSP00000222597:G146C;ENSP00000410615:G97C	ENSP00000222597:G146C	G	+	1	0	CBLL1	107183171	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.247000	0.95444	2.725000	0.93324	0.557000	0.71058	GGC		0.313	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814	Missense_Mutation	6	284	6	284	---	---	---	---
TMEM168	64418	broad.mit.edu	37	7	112423930	112423930	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:112423930C>A	ENST00000312814.6	-	2	1511	c.951G>T	c.(949-951)tgG>tgT	p.W317C	TMEM168_ENST00000454074.1_Missense_Mutation_p.W317C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	317						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TATGGAATCCCCAAAGAGTTA	0.353																																						ENST00000312814.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						c.(949-951)tgG>tgT		transmembrane protein 168							90.0	104.0	99.0					7																	112423930		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112423930C>A		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.951G>T	7.37:g.112423930C>A	ENSP00000323068:p.Trp317Cys					TMEM168_ENST00000454074.1_Missense_Mutation_p.W317C	p.W317C	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN			2	1511	-								A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.951G>T	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483569	0.63962	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78140	-0.2320	9	0.87932	D	0	-14.0153	20.6593	0.99626	0.0:1.0:0.0:0.0	.	317	Q9H0V1	TM168_HUMAN	C	317	.	ENSP00000323068:W317C	W	-	3	0	TMEM168	112211166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.791000	0.85805	2.885000	0.99019	0.655000	0.94253	TGG		0.353	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		8	416	8	416	---	---	---	---
CAV2	858	broad.mit.edu	37	7	116146187	116146187	+	3'UTR	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:116146187C>A	ENST00000222693.4	+	0	893				CAV2_ENST00000343213.2_Missense_Mutation_p.P105T	NM_001206747.1|NM_001206748.1|NM_001233.4	NP_001193676.1|NP_001193677.1|NP_001224.1	P51636	CAV2_HUMAN	caveolin 2						caveola assembly (GO:0070836)|endoplasmic reticulum organization (GO:0007029)|mitochondrion organization (GO:0007005)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of endothelial cell proliferation (GO:0001938)|protein oligomerization (GO:0051259)|regulation of mitosis (GO:0007088)|skeletal muscle fiber development (GO:0048741)|synaptic transmission (GO:0007268)|vesicle docking (GO:0048278)|vesicle fusion (GO:0006906)|vesicle organization (GO:0016050)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	D1 dopamine receptor binding (GO:0031748)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(1)|skin(1)	3	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			TACTTGGACCCCAGGTCTGGA	0.408																																						ENST00000343213.2																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(313-315)Cca>Aca		caveolin 2							136.0	117.0	124.0					7																	116146187		2203	4300	6503	SO:0001624	3_prime_UTR_variant	858				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity	g.chr7:116146187C>A	AF035752	CCDS5765.1, CCDS5766.1	7q31	2006-02-09			ENSG00000105971	ENSG00000105971			1528	protein-coding gene	gene with protein product		601048				8552590, 10087206	Standard	NM_001233		Approved	CAV	uc003vid.3	P51636	OTTHUMG00000023414	ENST00000222693.4:c.*12C>A	7.37:g.116146187C>A						CAV2_ENST00000222693.4_3'UTR	p.P105T	NM_198212.2	NP_937855.1	P51636	CAV2_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	355	+	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		0					A4D0U2|Q9UGM7	Missense_Mutation	SNP	ENST00000222693.4	37	c.313C>A	CCDS5766.1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559049	0.27827	.	.	ENSG00000105971	ENST00000343213	.	.	.	5.73	0.513	0.17000	.	.	.	.	.	T	0.17280	0.0415	.	.	.	0.09310	N	0.999998	B	0.23806	0.091	B	0.17433	0.018	T	0.21008	-1.0258	6	.	.	.	.	1.487	0.02449	0.2044:0.4125:0.1648:0.2183	.	105	P51636-3	.	T	105	.	.	P	+	1	0	CAV2	115933423	0.000000	0.05858	0.036000	0.18154	0.915000	0.54546	-0.273000	0.08548	0.423000	0.26033	0.655000	0.94253	CCA		0.408	CAV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059735.4	NM_001233		5	186	5	186	---	---	---	---
MET	4233	broad.mit.edu	37	7	116435754	116435754	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:116435754C>A	ENST00000318493.6	+	20	4085	c.3898C>A	c.(3898-3900)Cca>Aca	p.P1300T	MET_ENST00000539704.1_Missense_Mutation_p.P152T|MET_ENST00000397752.3_Missense_Mutation_p.P1282T			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAGAGGAGCCCCACCTTATCC	0.463			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(3844-3846)Cca>Aca		met proto-oncogene							269.0	265.0	267.0					7																	116435754		1897	4111	6008	SO:0001583	missense	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116435754C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3898C>A	7.37:g.116435754C>A	ENSP00000317272:p.Pro1300Thr		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1473	MET_ENST00000539704.1_Missense_Mutation_p.P152T|MET_ENST00000318493.6_Missense_Mutation_p.P1300T	p.P1282T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		20	4044	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	1282			Interaction with RANBP9.|Protein kinase.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.3844C>A	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	C	9.378	1.072252	0.20147	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000539704	T;T;T	0.36340	1.26;1.26;1.26	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.44850	0.1313	N	0.12637	0.245	0.80722	D	1	P;D	0.89917	0.701;1.0	P;D	0.91635	0.587;0.999	T	0.48581	-0.9023	10	0.42905	T	0.14	.	19.6264	0.95679	0.0:1.0:0.0:0.0	.	1300;1282	P08581-2;P08581	.;MET_HUMAN	T	1282;1300;152	ENSP00000380860:P1282T;ENSP00000317272:P1300T;ENSP00000445020:P152T	ENSP00000317272:P1300T	P	+	1	0	MET	116222990	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	4.835000	0.62781	2.717000	0.92951	0.655000	0.94253	CCA		0.463	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			7	392	7	392	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121731808	121731808	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:121731808C>A	ENST00000393376.1	-	17	2060	c.1965G>T	c.(1963-1965)gtG>gtT	p.V655V	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.V655V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	655	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						TCAAAACTCCCACTGGACTCC	0.398																																						ENST00000393376.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						c.(1963-1965)gtG>gtT		aminoadipate-semialdehyde synthase	L-Glutamic Acid(DB00142)|NADH(DB00157)						78.0	76.0	77.0					7																	121731808		2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121731808C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1965G>T	7.37:g.121731808C>A						AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.V655V	p.V655V			Q9UDR5	AASS_HUMAN			17	2060	-			655			Saccharopine dehydrogenase.		O95462	Silent	SNP	ENST00000393376.1	37	c.1965G>T	CCDS5783.1																																																																																				0.398	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		4	90	4	90	---	---	---	---
CNOT4	4850	broad.mit.edu	37	7	135047678	135047678	+	Missense_Mutation	SNP	G	G	T	rs572004308		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:135047678G>T	ENST00000451834.1	-	12	2375	c.2092C>A	c.(2092-2094)Ccc>Acc	p.P698T	CNOT4_ENST00000473470.1_5'Flank|CNOT4_ENST00000541284.1_Missense_Mutation_p.P701T|CNOT4_ENST00000423368.2_Missense_Mutation_p.P630T|CNOT4_ENST00000361528.4_Missense_Mutation_p.P627T			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					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)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AAATCTGTGGGGGTTTTGCTG	0.527																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000541284.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(2101-2103)Ccc>Acc		CCR4-NOT transcription complex, subunit 4							201.0	210.0	207.0					7																	135047678		1852	4093	5945	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135047678G>T	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.2092C>A	7.37:g.135047678G>T	ENSP00000388491:p.Pro698Thr					CNOT4_ENST00000361528.4_Missense_Mutation_p.P627T|CNOT4_ENST00000451834.1_Missense_Mutation_p.P698T|CNOT4_ENST00000423368.2_Missense_Mutation_p.P630T	p.P701T	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN			12	2431	-			370					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000451834.1	37	c.2101C>A	CCDS55167.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730579	0.30684	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000361528	T;T;T;T	0.44083	0.97;0.97;0.93;0.93	5.92	5.92	0.95590	.	.	.	.	.	T	0.35508	0.0934	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.13145	0.001;0.001;0.007;0.007	B;B;B;B	0.10450	0.001;0.001;0.005;0.005	T	0.06679	-1.0813	9	0.49607	T	0.09	.	20.3167	0.98654	0.0:0.0:1.0:0.0	.	698;701;630;627	E7ET38;F8VQP3;O95628-4;O95628-8	.;.;.;.	T	701;698;630;627	ENSP00000445508:P701T;ENSP00000388491:P698T;ENSP00000406777:P630T;ENSP00000354673:P627T	ENSP00000354673:P627T	P	-	1	0	CNOT4	134698218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.473000	0.53122	2.809000	0.96659	0.557000	0.71058	CCC		0.527	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		9	509	9	509	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140434425	140434425	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:140434425C>A	ENST00000288602.6	-	18	2333	c.2273G>T	c.(2272-2274)gGg>gTg	p.G758V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	758					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)	ACCATATCCCCCTGCCTGGAT	0.438		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)	ENST00000288602.6		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"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				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						c.(2272-2274)gGg>gTg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						241.0	253.0	249.0					7																	140434425		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.chr7:140434425C>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.2273G>T	7.37:g.140434425C>A	ENSP00000288602:p.Gly758Val						p.G758V	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			18	2333	-	Melanoma(164;0.00956)		758					A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.2273G>T	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.237327|5.237327	0.95240|0.95240	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	T|T	0.75050|0.74947	-0.9|-0.89	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76399|0.76399	0.3982|0.3982	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.78173|0.78173	-0.2307|-0.2307	10|8	0.72032|0.87932	D|D	0.01|0	.|.	20.0953|20.0953	0.97838|0.97838	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	758|.	P15056|.	BRAF_HUMAN|.	V|W	758|366	ENSP00000288602:G758V|ENSP00000419060:G366W	ENSP00000288602:G758V|ENSP00000419060:G366W	G|G	-|-	2|1	0|0	BRAF|BRAF	140080894|140080894	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	1.000000|1.000000	0.99986|0.99986	7.818000|7.818000	0.86416|0.86416	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.438	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		10	752	10	752	---	---	---	---
WEE2	494551	broad.mit.edu	37	7	141408679	141408679	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:141408679C>A	ENST00000397541.2	+	1	527	c.121C>A	c.(121-123)Cca>Aca	p.P41T	WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	41					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GAGCCAAACCCCAGAGAAGGG	0.473																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(121-123)Cca>Aca		WEE1 homolog 2 (S. pombe)							165.0	165.0	165.0					7																	141408679		1950	4138	6088	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141408679C>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.121C>A	7.37:g.141408679C>A	ENSP00000380675:p.Pro41Thr					WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA	p.P41T	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			1	527	+	Melanoma(164;0.0171)		41						Missense_Mutation	SNP	ENST00000397541.2	37	c.121C>A	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	c	11.80	1.746240	0.30955	.	.	ENSG00000214102	ENST00000397541	T	0.20598	2.06	4.78	3.9	0.45041	.	1.241140	0.06144	U	0.673011	T	0.29914	0.0748	M	0.69823	2.125	0.09310	N	1	B	0.24258	0.1	B	0.21708	0.036	T	0.30621	-0.9972	10	0.59425	D	0.04	-11.1304	12.3448	0.55114	0.0:0.9209:0.0:0.0791	.	41	P0C1S8	WEE2_HUMAN	T	41	ENSP00000380675:P41T	ENSP00000380675:P41T	P	+	1	0	WEE2	141055148	0.020000	0.18652	0.012000	0.15200	0.027000	0.11550	1.560000	0.36331	1.632000	0.50472	-0.141000	0.14075	CCA		0.473	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		6	277	6	277	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141758042	141758042	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:141758042G>T	ENST00000549489.2	+	31	3828	c.3733G>T	c.(3733-3735)Ggg>Tgg	p.G1245W	MGAM_ENST00000475668.2_Missense_Mutation_p.G1245W	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1245	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.G1245W(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGGTCTTTGGGGTTCCAGCT	0.463																																						ENST00000475668.2																			3	Substitution - Missense(3)	p.G1245W(3)	lung(3)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3733-3735)Ggg>Tgg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						256.0	248.0	250.0					7																	141758042		1943	4138	6081	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141758042G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3733G>T	7.37:g.141758042G>T	ENSP00000447378:p.Gly1245Trp					MGAM_ENST00000549489.2_Missense_Mutation_p.G1245W	p.G1245W			O43451	MGA_HUMAN			31	3787	+	Melanoma(164;0.0272)		1245			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.3733G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	g	15.54	2.864378	0.51482	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.98345	-4.88	3.72	3.72	0.42706	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.99465	0.9810	H	0.99697	4.71	0.52099	D	0.999947	D	0.89917	1.0	D	0.97110	1.0	D	0.97720	1.0196	9	0.87932	D	0	.	14.3362	0.66592	0.0:0.0:1.0:0.0	.	1245	O43451	MGA_HUMAN	W	1245;1245;1122	ENSP00000447378:G1245W	ENSP00000316431:G1122W	G	+	1	0	MGAM	141404511	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	9.518000	0.98022	1.623000	0.50342	0.173000	0.16961	GGG		0.463	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			9	597	9	597	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143140817	143140817	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:143140817C>A	ENST00000332690.1	+	1	272	c.272C>A	c.(271-273)cCt>cAt	p.P91H	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	91					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P91L(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CCATACAACCCTGTACTGCAG	0.478																																						ENST00000332690.1																			1	Substitution - Missense(1)	p.P91L(1)	skin(1)	breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(271-273)cCt>cAt		taste receptor, type 2, member 60							150.0	134.0	139.0					7																	143140817		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140817C>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.272C>A	7.37:g.143140817C>A	ENSP00000327724:p.Pro91His					EPHA1-AS1_ENST00000429289.1_RNA	p.P91H	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN			1	272	+	Melanoma(164;0.172)		91					A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.272C>A	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	C	8.646	0.897106	0.17686	.	.	ENSG00000185899	ENST00000332690	T	0.00717	5.79	5.48	2.64	0.31445	.	0.813503	0.10761	U	0.637189	T	0.02342	0.0072	M	0.66939	2.045	0.09310	N	1	D	0.89917	1.0	D	0.70227	0.968	T	0.45614	-0.9249	10	0.13470	T	0.59	.	4.4009	0.11386	0.1793:0.6378:0.0:0.1829	.	91	P59551	T2R60_HUMAN	H	91	ENSP00000327724:P91H	ENSP00000327724:P91H	P	+	2	0	TAS2R60	142850939	0.000000	0.05858	0.006000	0.13384	0.031000	0.12232	-0.729000	0.04920	0.659000	0.30945	0.655000	0.94253	CCT		0.478	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			7	296	7	296	---	---	---	---
TAS2R60	338398	broad.mit.edu	37	7	143141423	143141423	+	Missense_Mutation	SNP	C	C	A	rs144018396		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:143141423C>A	ENST00000332690.1	+	1	878	c.878C>A	c.(877-879)cCc>cAc	p.P293H	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	293					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCAGTTCACCCCATCATTCTG	0.493																																						ENST00000332690.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31						c.(877-879)cCc>cAc		taste receptor, type 2, member 60							136.0	133.0	134.0					7																	143141423		2203	4300	6503	SO:0001583	missense	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143141423C>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.878C>A	7.37:g.143141423C>A	ENSP00000327724:p.Pro293His					EPHA1-AS1_ENST00000429289.1_RNA	p.P293H	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN			1	878	+	Melanoma(164;0.172)		293					A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	ENST00000332690.1	37	c.878C>A	CCDS5885.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428337	0.62844	.	.	ENSG00000185899	ENST00000332690	T	0.64260	-0.09	5.82	4.94	0.65067	.	0.252787	0.32106	U	0.006566	T	0.75117	0.3806	M	0.65975	2.015	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.67787	-0.5580	10	0.87932	D	0	.	10.6176	0.45460	0.0:0.912:0.0:0.088	.	293	P59551	T2R60_HUMAN	H	293	ENSP00000327724:P293H	ENSP00000327724:P293H	P	+	2	0	TAS2R60	142851545	0.005000	0.15991	0.004000	0.12327	0.317000	0.28152	1.972000	0.40540	1.450000	0.47717	0.591000	0.81541	CCC		0.493	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			7	326	7	326	---	---	---	---
OR2A14	135941	broad.mit.edu	37	7	143827062	143827062	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:143827062C>A	ENST00000408899.2	+	1	912	c.857C>A	c.(856-858)cCc>cAc	p.P286H		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ATGCTGAACCCCCTGATATAT	0.542																																						ENST00000408899.2																			0				large_intestine(4)|lung(17)|skin(1)	22						c.(856-858)cCc>cAc		olfactory receptor, family 2, subfamily A, member 14							146.0	149.0	148.0					7																	143827062		1907	4126	6033	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143827062C>A		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.857C>A	7.37:g.143827062C>A	ENSP00000386137:p.Pro286His						p.P286H	NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN			1	912	+	Melanoma(164;0.0783)		286					Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.857C>A	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647575	0.47258	.	.	ENSG00000221938	ENST00000408899	T	0.64260	-0.09	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32273	U	0.006329	D	0.84329	0.5448	H	0.95365	3.66	0.50467	D	0.999871	D	0.89917	1.0	D	0.87578	0.998	D	0.89083	0.3477	10	0.87932	D	0	-26.0903	14.3811	0.66911	0.0:1.0:0.0:0.0	.	286	Q96R47	O2A14_HUMAN	H	286	ENSP00000386137:P286H	ENSP00000386137:P286H	P	+	2	0	OR2A14	143457995	1.000000	0.71417	0.990000	0.47175	0.051000	0.14879	5.679000	0.68160	2.303000	0.77524	0.561000	0.74099	CCC		0.542	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			8	362	8	362	---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148800929	148800929	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:148800929C>A	ENST00000378061.2	-	4	2166	c.2034G>T	c.(2032-2034)agG>agT	p.R678S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	678					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCAAGCTGCCCCTGATGCAGT	0.552																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(2032-2034)agG>agT		zinc finger protein 425							106.0	101.0	102.0					7																	148800929		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148800929C>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.2034G>T	7.37:g.148800929C>A	ENSP00000367300:p.Arg678Ser						p.R678S	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	2166	-	Melanoma(164;0.15)		678					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.2034G>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.467154	0.43839	.	.	ENSG00000204947	ENST00000378061	T	0.14391	2.51	2.87	0.972	0.19704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05318	0.0141	N	0.11364	0.135	0.09310	N	1	B	0.21606	0.058	B	0.12837	0.008	T	0.42032	-0.9475	9	0.05959	T	0.93	.	6.7726	0.23602	0.0:0.7383:0.0:0.2617	.	678	Q6IV72	ZN425_HUMAN	S	678	ENSP00000367300:R678S	ENSP00000367300:R678S	R	-	3	2	ZNF425	148431862	0.000000	0.05858	0.001000	0.08648	0.921000	0.55340	-1.586000	0.02110	0.530000	0.28619	0.655000	0.94253	AGG		0.552	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		6	239	6	239	---	---	---	---
ZNF783	100289678	broad.mit.edu	37	7	148963960	148963960	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:148963960G>T	ENST00000434415.1	+	3	634	c.471G>T	c.(469-471)tgG>tgT	p.W157C		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	157	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			AGCTGGAGTGGGGCAAGCTGG	0.592																																						ENST00000434415.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22						c.(469-471)tgG>tgT		zinc finger family member 783							241.0	214.0	223.0					7																	148963960		2203	4300	6503	SO:0001583	missense	100289678				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr7:148963960G>T	AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.471G>T	7.37:g.148963960G>T	ENSP00000410890:p.Trp157Cys						p.W157C	NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0014)		3	634	+	Melanoma(164;0.15)		157					C9J9J2	Missense_Mutation	SNP	ENST00000434415.1	37	c.471G>T	CCDS56519.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486411	0.63962	.	.	ENSG00000204946	ENST00000434415	T	0.10288	2.89	4.78	4.78	0.61160	.	0.000000	0.30999	N	0.008445	T	0.41971	0.1182	M	0.92923	3.36	0.80722	D	1	.	.	.	.	.	.	T	0.56251	-0.8010	8	0.87932	D	0	-21.8199	15.3194	0.74109	0.0:0.0:1.0:0.0	.	.	.	.	C	157	ENSP00000410890:W157C	ENSP00000367291:W157C	W	+	3	0	ZNF783	148594893	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.783000	0.68982	2.209000	0.71365	0.561000	0.74099	TGG		0.592	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1	NM_001195220		6	263	6	263	---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150696367	150696367	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:150696367C>A	ENST00000484524.1	+	8	1046	c.1046C>A	c.(1045-1047)cCc>cAc	p.P349H	NOS3_ENST00000461406.1_Missense_Mutation_p.P143H|NOS3_ENST00000297494.3_Missense_Mutation_p.P349H|NOS3_ENST00000467517.1_Missense_Mutation_p.P349H	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGAGTTCCCCGCAGCCCCC	0.632																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1045-1047)cCc>cAc		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						84.0	91.0	88.0					7																	150696367		2201	4294	6495	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150696367C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1046C>A	7.37:g.150696367C>A	ENSP00000420215:p.Pro349His					NOS3_ENST00000484524.1_Missense_Mutation_p.P349H|NOS3_ENST00000461406.1_Missense_Mutation_p.P143H|NOS3_ENST00000467517.1_Missense_Mutation_p.P349H	p.P349H	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	9	1403	+	all_neural(206;0.219)		349			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.1046C>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	N	25.6	4.651037	0.88056	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.31	5.31	0.75309	Nitric oxide synthase, oxygenase domain (2);	0.101981	0.41823	D	0.000813	T	0.58075	0.2097	M	0.88241	2.94	0.53688	D	0.999974	P;P;D;D;D	0.71674	0.814;0.814;0.982;0.998;0.987	P;P;D;D;P	0.74348	0.778;0.841;0.948;0.983;0.886	T	0.66630	-0.5875	10	0.87932	D	0	-9.8335	16.5106	0.84283	0.0:1.0:0.0:0.0	.	349;349;349;143;349	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	H	349;143;349;349	ENSP00000297494:P349H;ENSP00000417143:P143H;ENSP00000420215:P349H;ENSP00000420551:P349H	ENSP00000297494:P349H	P	+	2	0	NOS3	150327300	0.995000	0.38212	0.902000	0.35471	0.984000	0.73092	6.026000	0.70873	2.479000	0.83701	0.639000	0.83563	CCC		0.632	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		5	164	5	164	---	---	---	---
NCAPG2	54892	broad.mit.edu	37	7	158451099	158451099	+	Splice_Site	SNP	T	T	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:158451099T>A	ENST00000409423.1	-	18	2163	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V	NCAPG2_ENST00000541468.1_Splice_Site_p.D165V|NCAPG2_ENST00000275830.10_Splice_Site_p.D456V|NCAPG2_ENST00000409339.3_Splice_Site_p.D664V|NCAPG2_ENST00000449727.2_Splice_Site_p.D664V|NCAPG2_ENST00000356309.3_Splice_Site_p.D664V	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	664					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)	p.D664V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCAGCGATCATCCTAAAAGCG	0.383																																						ENST00000409339.3																			1	Substitution - Missense(1)	p.D664V(1)	prostate(1)	NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39						c.(1990-1992)gAt>gTt		non-SMC condensin II complex, subunit G2							46.0	45.0	45.0					7																	158451099		1864	4112	5976	SO:0001630	splice_region_variant	54892				cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	g.chr7:158451099T>A	BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.1990-1A>T	7.37:g.158451099T>A						NCAPG2_ENST00000409423.1_Splice_Site_p.D664V|NCAPG2_ENST00000356309.3_Splice_Site_p.D664V|NCAPG2_ENST00000541468.1_Splice_Site_p.D165V|NCAPG2_ENST00000275830.10_Splice_Site_p.D456V|NCAPG2_ENST00000449727.2_Splice_Site_p.D664V	p.D664V	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)	17	2104	-	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	664					A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Splice_Site	SNP	ENST00000409423.1	37	c.1991A>T	CCDS43686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.3|26.3	4.728145|4.728145	0.89390|0.89390	.|.	.|.	ENSG00000146918|ENSG00000146918	ENST00000541468;ENST00000356309;ENST00000409423;ENST00000275830;ENST00000409339;ENST00000545393;ENST00000449727|ENST00000441982	T;T;T;T;T;T|.	0.38401|.	1.17;1.15;1.15;1.19;1.14;1.14|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.090754|.	0.85682|.	D|.	0.000000|.	T|T	0.73102|0.73102	0.3544|0.3544	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.998;1.0|.	D;D;D;D|.	0.78314|.	0.991;0.988;0.957;0.98|.	T|T	0.72659|0.72659	-0.4226|-0.4226	10|5	0.87932|.	D|.	0|.	-29.0247|-29.0247	15.9677|15.9677	0.79987|0.79987	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	664;107;456;664|.	Q86XI2-2;B4DHE5;E7EUH9;Q86XI2|.	.;.;.;CNDG2_HUMAN|.	V|L	165;664;664;456;664;107;664|466	ENSP00000442337:D165V;ENSP00000348657:D664V;ENSP00000386569:D664V;ENSP00000275830:D456V;ENSP00000387007:D664V;ENSP00000388326:D664V|.	ENSP00000275830:D456V|.	D|M	-|-	2|1	0|0	NCAPG2|NCAPG2	158143860|158143860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	7.064000|7.064000	0.76721|0.76721	2.181000|2.181000	0.69327|0.69327	0.533000|0.533000	0.62120|0.62120	GAT|ATG		0.383	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1	NM_017760	Missense_Mutation	14	31	14	31	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2830703	2830703	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:2830703C>A	ENST00000520002.1	-	58	9417	c.8862G>T	c.(8860-8862)agG>agT	p.R2954S	CSMD1_ENST00000602557.1_Missense_Mutation_p.R2954S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2896S|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2953S|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2895S|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2896S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2954	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGGGAGCCCCTCAGCTGGT	0.567																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(8860-8862)agG>agT		CUB and Sushi multiple domains 1							78.0	83.0	81.0					8																	2830703		1993	4149	6142	SO:0001583	missense	64478					integral to membrane		g.chr8:2830703C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8862G>T	8.37:g.2830703C>A	ENSP00000430733:p.Arg2954Ser					CSMD1_ENST00000602723.1_Missense_Mutation_p.R2896S|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2953S|CSMD1_ENST00000520002.1_Missense_Mutation_p.R2954S|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2896S|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2895S	p.R2954S			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	58	9417	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2954			Sushi 22.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8862G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.075|4.075	0.011778|0.011778	0.07912|0.07912	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.62941	.|-0.01;-0.01;-0.01;-0.01	5.1|5.1	1.77|1.77	0.24775|0.24775	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.067812	.|0.64402	.|D	.|0.000017	T|T	0.55194|0.55194	0.1905|0.1905	L|L	0.28776|0.28776	0.89|0.89	0.80722|0.80722	D|D	1|1	.|D;P;P	.|0.53619	.|0.961;0.578;0.657	.|P;B;B	.|0.57679	.|0.825;0.388;0.409	T|T	0.50039|0.50039	-0.8874|-0.8874	5|10	.|0.12103	.|T	.|0.63	.|.	6.9788|6.9788	0.24692|0.24692	0.0:0.3723:0.4967:0.131|0.0:0.3723:0.4967:0.131	.|.	.|2954;2954;2895	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	W|S	2371|2896;2954;2815;2953;2895	.|ENSP00000383047:R2896S;ENSP00000430733:R2954S;ENSP00000441462:R2953S;ENSP00000446243:R2895S	.|ENSP00000320445:R2815S	G|R	-|-	1|3	0|2	CSMD1|CSMD1	2818110|2818110	0.518000|0.518000	0.26234|0.26234	0.999000|0.999000	0.59377|0.59377	0.123000|0.123000	0.20343|0.20343	-0.211000|-0.211000	0.09332|0.09332	0.515000|0.515000	0.28320|0.28320	-0.165000|-0.165000	0.13383|0.13383	GGG|AGG		0.567	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		5	112	5	112	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8185557	8185557	+	Missense_Mutation	SNP	C	C	A	rs200624656		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:8185557C>A	ENST00000520004.1	-	5	2999	c.2735G>T	c.(2734-2736)gGg>gTg	p.G912V	SGK223_ENST00000330777.4_Missense_Mutation_p.G912V			Q86YV5	SG223_HUMAN		914							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GGAGGGGGCCCCTTTGCACTG	0.662																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(2734-2736)gGg>gTg									34.0	40.0	38.0					8																	8185557		1931	4118	6049	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185557C>A																												ENST00000520004.1:c.2735G>T	8.37:g.8185557C>A	ENSP00000428054:p.Gly912Val					SGK223_ENST00000330777.4_Missense_Mutation_p.G912V	p.G912V			Q86YV5	SG223_HUMAN			5	2999	-			912					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.2735G>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	5.870	0.344663	0.11126	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.56444	0.46;0.46	4.56	2.67	0.31697	.	0.295385	0.27236	N	0.020295	T	0.35480	0.0933	L	0.40543	1.245	0.32627	N	0.522545	P	0.35077	0.483	B	0.30495	0.116	T	0.43621	-0.9380	10	0.48119	T	0.1	.	3.9154	0.09220	0.1488:0.5407:0.2129:0.0976	.	912	Q86YV5	SG223_HUMAN	V	912	ENSP00000330930:G912V;ENSP00000428054:G912V	ENSP00000330930:G912V	G	-	2	0	AC068353.1	8222967	0.974000	0.33945	0.105000	0.21289	0.154000	0.21943	2.351000	0.44071	0.583000	0.29574	0.563000	0.77884	GGG		0.662	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			4	51	4	51	---	---	---	---
ATP6V1B2	526	broad.mit.edu	37	8	20072428	20072428	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:20072428G>T	ENST00000276390.2	+	10	1067	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	343					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	GCGAGTGGAAGGGAGAAACGG	0.438																																					Pancreas(119;1230 1726 3901 4036 31644)	ENST00000276390.2																			0				endometrium(1)|kidney(2)|lung(5)|prostate(1)	9						c.(1027-1029)Ggg>Tgg		ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2							160.0	153.0	155.0					8																	20072428		2203	4300	6503	SO:0001583	missense	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20072428G>T	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.1027G>T	8.37:g.20072428G>T	ENSP00000276390:p.Gly343Trp						p.G343W	NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	10	1067	+			343					B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	c.1027G>T	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893311	0.91889	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	D	0.82984	-1.67	5.3	5.3	0.74995	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.047549	0.85682	D	0.000000	D	0.94195	0.8137	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95736	0.8779	10	0.87932	D	0	-38.5409	17.8874	0.88861	0.0:0.0:1.0:0.0	.	343	P21281	VATB2_HUMAN	W	343;217	ENSP00000276390:G343W	ENSP00000276390:G343W	G	+	1	0	ATP6V1B2	20116708	1.000000	0.71417	0.983000	0.44433	0.982000	0.71751	9.841000	0.99482	2.627000	0.88993	0.655000	0.94253	GGG		0.438	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		5	110	5	110	---	---	---	---
CDCA2	157313	broad.mit.edu	37	8	25327468	25327468	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:25327468C>A	ENST00000330560.3	+	7	1269	c.792C>A	c.(790-792)ccC>ccA	p.P264P	CDCA2_ENST00000380665.3_Silent_p.P249P	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	264					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		AGTCTCTTCCCCTTTCAGAGC	0.348																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(790-792)ccC>ccA		cell division cycle associated 2							89.0	90.0	90.0					8																	25327468		2203	4300	6503	SO:0001819	synonymous_variant	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25327468C>A	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.792C>A	8.37:g.25327468C>A						CDCA2_ENST00000380665.3_Silent_p.P249P	p.P264P	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	7	1269	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	264					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	c.792C>A	CCDS6049.1																																																																																				0.348	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		5	185	5	185	---	---	---	---
RNF122	79845	broad.mit.edu	37	8	33408563	33408563	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:33408563C>A	ENST00000256257.1	-	4	670	c.269G>T	c.(268-270)gGg>gTg	p.G90V		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	90						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CACACTTACCCCATATAATTG	0.512																																						ENST00000256257.1																			0				endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(268-270)gGg>gTg		ring finger protein 122							242.0	249.0	246.0					8																	33408563		2203	4300	6503	SO:0001630	splice_region_variant	79845					endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding	g.chr8:33408563C>A	AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"""RING-type (C3HC4) zinc fingers"""	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.270+1G>T	8.37:g.33408563C>A							p.G90V	NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)	4	670	-			90					Q52LK3	Splice_Site	SNP	ENST00000256257.1	37	c.269G>T	CCDS6091.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.864690	0.71949	.	.	ENSG00000133874	ENST00000256257	T	0.33654	1.4	5.75	5.75	0.90469	Zinc finger, RING-H2-type (1);	0.157472	0.56097	D	0.000026	T	0.36663	0.0975	M	0.65498	2.005	0.80722	D	1	P	0.40834	0.73	B	0.35550	0.205	T	0.17440	-1.0369	10	0.19590	T	0.45	-18.7311	17.7307	0.88376	0.0:1.0:0.0:0.0	.	90	Q9H9V4	RN122_HUMAN	V	90	ENSP00000256257:G90V	ENSP00000256257:G90V	G	-	2	0	RNF122	33528105	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	6.355000	0.73041	2.714000	0.92807	0.563000	0.77884	GGG		0.512	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787	Missense_Mutation	7	348	7	348	---	---	---	---
GOT1L1	137362	broad.mit.edu	37	8	37793285	37793285	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:37793285G>T	ENST00000307599.4	-	7	965	c.866C>A	c.(865-867)cCc>cAc	p.P289H	GOT1L1_ENST00000518826.1_Missense_Mutation_p.P30H	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	289					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			CGTGTTGGGGGGGTTTAGCCA	0.602																																						ENST00000307599.4																			0				central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14						c.(865-867)cCc>cAc		glutamic-oxaloacetic transaminase 1-like 1							53.0	58.0	56.0					8																	37793285		2042	4206	6248	SO:0001583	missense	137362				biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	g.chr8:37793285G>T	BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.866C>A	8.37:g.37793285G>T	ENSP00000303077:p.Pro289His					GOT1L1_ENST00000518826.1_Missense_Mutation_p.P30H	p.P289H	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		7	965	-	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	289					A8MWL4	Missense_Mutation	SNP	ENST00000307599.4	37	c.866C>A	CCDS47839.1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581220	0.46006	.	.	ENSG00000169154	ENST00000307599;ENST00000518826	D;D	0.97870	-4.58;-4.58	5.11	5.11	0.69529	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.076058	0.52532	D	0.000068	D	0.98871	0.9618	M	0.90650	3.135	0.50039	D	0.999841	D	0.89917	1.0	D	0.83275	0.996	D	0.99694	1.1002	10	0.87932	D	0	-7.4801	15.5201	0.75859	0.0:0.0:1.0:0.0	.	289	Q8NHS2	AATC2_HUMAN	H	289;30	ENSP00000303077:P289H;ENSP00000429558:P30H	ENSP00000303077:P289H	P	-	2	0	GOT1L1	37912443	1.000000	0.71417	0.306000	0.25113	0.004000	0.04260	7.128000	0.77217	2.412000	0.81896	0.650000	0.86243	CCC		0.602	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413		4	36	4	36	---	---	---	---
DDHD2	23259	broad.mit.edu	37	8	38109666	38109666	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:38109666C>A	ENST00000397166.2	+	13	2003	c.1478C>A	c.(1477-1479)cCc>cAc	p.P493H	DDHD2_ENST00000529845.1_5'UTR|DDHD2_ENST00000517385.1_Missense_Mutation_p.P112H|DDHD2_ENST00000520272.2_Missense_Mutation_p.P493H	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	493					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GTGAAATACCCCCGGCTCATC	0.383																																						ENST00000397166.2																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28						c.(1477-1479)cCc>cAc		DDHD domain containing 2							151.0	162.0	158.0					8																	38109666		2203	4300	6503	SO:0001583	missense	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38109666C>A	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1478C>A	8.37:g.38109666C>A	ENSP00000380352:p.Pro493His					DDHD2_ENST00000520272.2_Missense_Mutation_p.P493H|DDHD2_ENST00000517385.1_Missense_Mutation_p.P112H|DDHD2_ENST00000529845.1_5'UTR	p.P493H	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		13	2003	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	493					B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	37	c.1478C>A	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156790	0.38119	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000517385	T;T	0.34667	1.35;1.35	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.38054	0.1026	L	0.53249	1.67	0.80722	D	1	P	0.45672	0.864	B	0.40165	0.321	T	0.37009	-0.9724	10	0.56958	D	0.05	-10.9092	18.0097	0.89219	0.0:1.0:0.0:0.0	.	493	O94830	DDHD2_HUMAN	H	493;493;112	ENSP00000380352:P493H;ENSP00000429932:P493H	ENSP00000380352:P493H	P	+	2	0	DDHD2	38228823	1.000000	0.71417	1.000000	0.80357	0.222000	0.24845	5.870000	0.69620	2.541000	0.85698	0.484000	0.47621	CCC		0.383	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		8	320	8	320	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38205040	38205040	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:38205040G>T	ENST00000317025.8	-	2	1167	c.650C>A	c.(649-651)cCc>cAc	p.P217H	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P217H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P217H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P217H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	217					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTCTAATTTGGGGATTTTGTG	0.343			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(649-651)cCc>cAc		Wolf-Hirschhorn syndrome candidate 1-like 1							174.0	164.0	168.0					8																	38205040		2203	4300	6503	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205040G>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.650C>A	8.37:g.38205040G>T	ENSP00000313983:p.Pro217His					WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P217H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P217H|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P217H	p.P217H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	1167	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	217					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.650C>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060753	0.55432	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.95171	-3.62;-3.63;-3.63;-0.15;0.91	5.45	5.45	0.79879	.	0.000000	0.48286	U	0.000194	D	0.93913	0.8052	L	0.51422	1.61	0.35035	D	0.759121	B;B;P;B	0.52692	0.412;0.415;0.955;0.343	B;B;P;B	0.49528	0.125;0.247;0.614;0.166	D	0.96687	0.9508	10	0.66056	D	0.02	.	14.1618	0.65452	0.0:0.0:0.8501:0.1499	.	217;217;217;217	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	H	217;217;154;217;217;217	ENSP00000393284:P217H;ENSP00000313983:P217H;ENSP00000434730:P217H;ENSP00000313410:P217H;ENSP00000435422:P217H	ENSP00000313410:P217H	P	-	2	0	WHSC1L1	38324197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.507000	0.60434	2.547000	0.85894	0.563000	0.77884	CCC		0.343	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		6	322	6	322	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55541471	55541471	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:55541471G>T	ENST00000220676.1	+	4	5177	c.5029G>T	c.(5029-5031)Ggg>Tgg	p.G1677W		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1677					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGATTCTGAAGGGCAGTCATT	0.413																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5029-5031)Ggg>Tgg		retinitis pigmentosa 1 (autosomal dominant)							154.0	157.0	156.0					8																	55541471		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541471G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5029G>T	8.37:g.55541471G>T	ENSP00000220676:p.Gly1677Trp						p.G1677W	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5177	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1677						Missense_Mutation	SNP	ENST00000220676.1	37	c.5029G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461430	0.43736	.	.	ENSG00000104237	ENST00000220676	T	0.26067	1.76	5.86	1.94	0.25998	.	0.546138	0.16539	N	0.210052	T	0.35740	0.0942	L	0.50333	1.59	0.09310	N	1	D	0.69078	0.997	P	0.61328	0.887	T	0.09818	-1.0657	10	0.87932	D	0	.	6.13	0.20199	0.2101:0.0:0.6572:0.1328	.	1677	P56715	RP1_HUMAN	W	1677	ENSP00000220676:G1677W	ENSP00000220676:G1677W	G	+	1	0	RP1	55704024	0.279000	0.24239	0.864000	0.33941	0.968000	0.65278	0.606000	0.24194	0.345000	0.23873	0.655000	0.94253	GGG		0.413	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		8	581	8	581	---	---	---	---
TGS1	96764	broad.mit.edu	37	8	56723475	56723475	+	Missense_Mutation	SNP	C	C	A	rs565030479	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:56723475C>A	ENST00000260129.5	+	11	2656	c.2179C>A	c.(2179-2181)Ctt>Att	p.L727I		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	727	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TAAGATTGCCCTTGCTCGCAA	0.353																																					Esophageal Squamous(34;275 823 4842 34837 48447)	ENST00000260129.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(2179-2181)Ctt>Att		trimethylguanosine synthase 1							209.0	211.0	211.0					8																	56723475		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56723475C>A	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2179C>A	8.37:g.56723475C>A	ENSP00000260129:p.Leu727Ile						p.L727I	NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		11	2656	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	727			Sufficient for catalytic activity.		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.2179C>A	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156893	0.78114	.	.	ENSG00000137574	ENST00000260129	T	0.46063	0.88	5.57	5.57	0.84162	.	0.069650	0.64402	D	0.000014	T	0.51924	0.1703	L	0.42632	1.34	0.58432	D	0.999999	B	0.29988	0.264	P	0.49387	0.609	T	0.52388	-0.8582	10	0.46703	T	0.11	-16.1038	12.8353	0.57770	0.0:0.9256:0.0:0.0744	.	727	Q96RS0	TGS1_HUMAN	I	727	ENSP00000260129:L727I	ENSP00000260129:L727I	L	+	1	0	TGS1	56886029	0.991000	0.36638	1.000000	0.80357	0.988000	0.76386	2.557000	0.45871	2.617000	0.88574	0.655000	0.94253	CTT		0.353	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1	NM_024831		8	580	8	580	---	---	---	---
LYN	4067	broad.mit.edu	37	8	56863046	56863046	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:56863046C>A	ENST00000519728.1	+	5	609	c.313C>A	c.(313-315)Ctt>Att	p.L105I	LYN_ENST00000520220.2_Missense_Mutation_p.L84I	NM_002350.3	NP_002341.1	P07948	LYN_HUMAN	LYN proto-oncogene, Src family tyrosine kinase	105	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to heat (GO:0034605)|cellular response to retinoic acid (GO:0071300)|cytokine secretion (GO:0050663)|dendritic cell differentiation (GO:0097028)|erythrocyte differentiation (GO:0030218)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|histamine secretion by mast cell (GO:0002553)|immune response-regulating cell surface receptor signaling pathway (GO:0002768)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of immune response (GO:0050777)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell proliferation (GO:0070667)|negative regulation of myeloid leukocyte differentiation (GO:0002762)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|neuron projection development (GO:0031175)|oligodendrocyte development (GO:0014003)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oligodendrocyte progenitor proliferation (GO:0070447)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of stress-activated protein kinase signaling cascade (GO:0070304)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cytokine production (GO:0001817)|regulation of cytokine secretion (GO:0050707)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of erythrocyte differentiation (GO:0045646)|regulation of inflammatory response (GO:0050727)|regulation of mast cell activation (GO:0033003)|regulation of mast cell degranulation (GO:0043304)|regulation of monocyte chemotaxis (GO:0090025)|regulation of platelet aggregation (GO:0090330)|regulation of protein phosphorylation (GO:0001932)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to amino acid (GO:0043200)|response to axon injury (GO:0048678)|response to carbohydrate (GO:0009743)|response to drug (GO:0042493)|response to hormone (GO:0009725)|response to insulin (GO:0032868)|response to organic cyclic compound (GO:0014070)|response to sterol depletion (GO:0006991)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|T cell costimulation (GO:0031295)|tolerance induction to self antigen (GO:0002513)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integrin alpha2-beta1 complex (GO:0034666)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycosphingolipid binding (GO:0043208)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)		Bosutinib(DB06616)|Ponatinib(DB08901)	AGCAAAGTCCCTTTTAACAAA	0.388																																						ENST00000520220.2																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						c.(250-252)Ctt>Att		v-yes-1 Yamaguchi sarcoma viral related oncogene homolog							210.0	210.0	210.0					8																	56863046		2203	4300	6503	SO:0001583	missense	4067				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity	g.chr8:56863046C>A	M16038	CCDS6162.1, CCDS47859.1	8q13	2014-06-25	2014-06-25		ENSG00000254087	ENSG00000254087		"""SH2 domain containing"""	6735	protein-coding gene	gene with protein product		165120	"""v-yes-1 Yamaguchi sarcoma viral related oncogene homolog"""			3561390	Standard	NM_002350		Approved	JTK8	uc003xsk.4	P07948	OTTHUMG00000044345	ENST00000519728.1:c.313C>A	8.37:g.56863046C>A	ENSP00000428924:p.Leu105Ile					LYN_ENST00000519728.1_Missense_Mutation_p.L105I	p.L84I	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	Epithelial(17;0.000834)|all cancers(17;0.00598)		5	524	+		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	105			SH3.		A0AVQ5	Missense_Mutation	SNP	ENST00000519728.1	37	c.250C>A	CCDS6162.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302154	0.40694	.	.	ENSG00000254087	ENST00000519728;ENST00000520220;ENST00000520050	T;T;T	0.49432	0.78;0.78;0.78	5.6	4.71	0.59529	Src homology-3 domain (4);	0.060089	0.64402	N	0.000003	T	0.51873	0.1700	L	0.46947	1.48	0.52099	D	0.999944	P;B	0.34639	0.461;0.001	P;B	0.48840	0.592;0.067	T	0.51309	-0.8722	10	0.41790	T	0.15	.	9.3249	0.37986	0.1456:0.7825:0.0:0.0719	.	175;105	Q6NUK7;P07948	.;LYN_HUMAN	I	105;84;105	ENSP00000428924:L105I;ENSP00000428424:L84I;ENSP00000428313:L105I	ENSP00000428924:L105I	L	+	1	0	LYN	57025600	0.726000	0.28059	0.985000	0.45067	0.944000	0.59088	1.149000	0.31626	1.354000	0.45846	0.655000	0.94253	CTT		0.388	LYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378155.1	NM_002350		8	621	8	621	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61654708	61654708	+	Silent	SNP	C	C	A	rs367559404		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:61654708C>A	ENST00000423902.2	+	2	1196	c.717C>A	c.(715-717)ccC>ccA	p.P239P	CHD7_ENST00000525508.1_Silent_p.P239P|CHD7_ENST00000524602.1_Silent_p.P239P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	239					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)			CCCACGTGCCCCAGCAGAGTC	0.577																																						ENST00000423902.2																			0				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						c.(715-717)ccC>ccA		chromodomain helicase DNA binding protein 7							95.0	99.0	97.0					8																	61654708		2110	4231	6341	SO:0001819	synonymous_variant	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.chr8:61654708C>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.717C>A	8.37:g.61654708C>A						CHD7_ENST00000524602.1_Silent_p.P239P|CHD7_ENST00000525508.1_Silent_p.P239P	p.P239P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		2	1196	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	239					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Silent	SNP	ENST00000423902.2	37	c.717C>A	CCDS47865.1																																																																																				0.577	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	231	6	231	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61773508	61773508	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:61773508C>A	ENST00000423902.2	+	35	8133	c.7654C>A	c.(7654-7656)Cca>Aca	p.P2552T	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2552					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)			TATAGAGACCCCACCAACAAG	0.488																																						ENST00000423902.2																			0				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						c.(7654-7656)Cca>Aca		chromodomain helicase DNA binding protein 7							121.0	119.0	120.0					8																	61773508		1949	4139	6088	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.chr8:61773508C>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.7654C>A	8.37:g.61773508C>A	ENSP00000392028:p.Pro2552Thr					CHD7_ENST00000524602.1_Intron	p.P2552T	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		35	8133	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2552					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.7654C>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196100	0.38806	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.81415	-1.49	5.63	5.63	0.86233	.	0.154798	0.46145	D	0.000312	T	0.73265	0.3565	N	0.22421	0.69	0.35518	D	0.80122	B	0.02656	0.0	B	0.04013	0.001	T	0.73279	-0.4033	10	0.72032	D	0.01	-10.6671	19.6876	0.95986	0.0:1.0:0.0:0.0	.	2552	Q9P2D1	CHD7_HUMAN	T	2552	ENSP00000392028:P2552T	ENSP00000307304:P2552T	P	+	1	0	CHD7	61936062	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	2.156000	0.42310	2.659000	0.90383	0.655000	0.94253	CCA		0.488	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		6	192	6	192	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68028335	68028335	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:68028335C>A	ENST00000262210.5	+	11	1490	c.1459C>A	c.(1459-1461)Ctt>Att	p.L487I	CSPP1_ENST00000412460.1_Missense_Mutation_p.L193I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	522	Pro-rich.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAGCAGCGCCCTTGGTGAAAT	0.443																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(1459-1461)Ctt>Att		centrosome and spindle pole associated protein 1							125.0	123.0	123.0					8																	68028335		1895	4120	6015	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68028335C>A	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1459C>A	8.37:g.68028335C>A	ENSP00000262210:p.Leu487Ile					CSPP1_ENST00000412460.1_Missense_Mutation_p.L193I	p.L487I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		11	1490	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	522			Pro-rich.		A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1459C>A	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	C	8.300	0.819768	0.16678	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.47528	1.1;0.84;0.84	5.08	3.29	0.37713	.	0.216900	0.31897	N	0.006900	T	0.48978	0.1530	L	0.56769	1.78	0.26868	N	0.967818	B;D;B;B	0.55385	0.357;0.971;0.421;0.421	B;P;B;B	0.48270	0.247;0.572;0.169;0.254	T	0.43734	-0.9373	10	0.49607	T	0.09	-11.2118	10.8523	0.46777	0.0:0.7743:0.0:0.2257	.	193;487;522;522	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	I	487;522;193;193	ENSP00000262210:L487I;ENSP00000415782:L193I;ENSP00000430092:L193I	ENSP00000262210:L487I	L	+	1	0	CSPP1	68190889	0.970000	0.33590	0.985000	0.45067	0.045000	0.14185	1.480000	0.35464	0.345000	0.23873	-1.814000	0.00607	CTT		0.443	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		8	254	8	254	---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68204210	68204210	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:68204210C>A	ENST00000262215.3	-	6	1177	c.788G>T	c.(787-789)gGg>gTg	p.G263V		NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	263					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTCAAGGTCCCCTTCGTGTTC	0.423																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(787-789)gGg>gTg		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							230.0	214.0	220.0					8																	68204210		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68204210C>A	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.788G>T	8.37:g.68204210C>A	ENSP00000262215:p.Gly263Val						p.G263V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		6	1177	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	263					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.788G>T	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123183	0.37436	.	.	ENSG00000066777	ENST00000262215	T	0.20598	2.06	5.02	5.02	0.67125	Armadillo-type fold (1);	0.271361	0.35677	N	0.003055	T	0.23133	0.0559	L	0.48642	1.525	0.80722	D	1	B	0.23735	0.09	B	0.22880	0.042	T	0.02581	-1.1138	10	0.38643	T	0.18	.	18.3625	0.90379	0.0:1.0:0.0:0.0	.	263	Q9Y6D6	BIG1_HUMAN	V	263	ENSP00000262215:G263V	ENSP00000262215:G263V	G	-	2	0	ARFGEF1	68366764	1.000000	0.71417	0.995000	0.50966	0.182000	0.23217	2.770000	0.47662	2.327000	0.79052	0.460000	0.39030	GGG		0.423	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		8	568	8	568	---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69434117	69434117	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:69434117C>A	ENST00000539993.1	+	6	1140	c.591C>A	c.(589-591)ccC>ccA	p.P197P	C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000337103.4_Silent_p.P172P|C8orf34_ENST00000518698.1_Silent_p.P283P|C8orf34_ENST00000348340.2_Silent_p.P197P			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	197										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			ATGCTGATCCCCTAGCTGCTG	0.443																																						ENST00000337103.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(514-516)ccC>ccA		chromosome 8 open reading frame 34							108.0	102.0	104.0					8																	69434117		2203	4300	6503	SO:0001819	synonymous_variant	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69434117C>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.591C>A	8.37:g.69434117C>A						C8orf34_ENST00000539993.1_Silent_p.P197P|C8orf34_ENST00000518698.1_Silent_p.P283P|C8orf34_ENST00000348340.2_Silent_p.P197P|C8orf34_ENST00000349492.3_3'UTR	p.P172P			Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		5	2108	+			197					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Silent	SNP	ENST00000539993.1	37	c.516C>A																																																																																					0.443	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		6	186	6	186	---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71128949	71128949	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:71128949G>T	ENST00000452400.2	-	3	213	c.32C>A	c.(31-33)cCc>cAc	p.P11H		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	11					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	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)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGCCCTGGAGGGGTCAGAGGT	0.433			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(31-33)cCc>cAc		nuclear receptor coactivator 2							174.0	165.0	168.0					8																	71128949		1863	4115	5978	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71128949G>T	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.32C>A	8.37:g.71128949G>T	ENSP00000399968:p.Pro11His						p.P11H	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		3	213	-	Breast(64;0.201)		11					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.32C>A	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967998	0.92855	.	.	ENSG00000140396	ENST00000452400;ENST00000519724	T	0.02974	4.09	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.00038	-1.2245	10	0.87932	D	0	.	19.2916	0.94102	0.0:0.0:1.0:0.0	.	11	Q15596	NCOA2_HUMAN	H	11	ENSP00000399968:P11H	ENSP00000399968:P11H	P	-	2	0	NCOA2	71291503	1.000000	0.71417	0.982000	0.44146	0.986000	0.74619	7.381000	0.79718	2.861000	0.98227	0.655000	0.94253	CCC		0.433	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			6	356	6	356	---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74495061	74495061	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:74495061C>A	ENST00000521451.1	-	7	882	c.506G>T	c.(505-507)gGg>gTg	p.G169V	STAU2_ENST00000524300.1_Missense_Mutation_p.G389V|STAU2_ENST00000522695.1_Missense_Mutation_p.G357V|STAU2_ENST00000521727.1_Missense_Mutation_p.G369V|STAU2_ENST00000355780.5_Missense_Mutation_p.G357V|STAU2_ENST00000522509.1_Missense_Mutation_p.G357V|STAU2_ENST00000517542.1_Missense_Mutation_p.G351V|STAU2_ENST00000519961.1_Missense_Mutation_p.G389V|STAU2_ENST00000523558.1_Missense_Mutation_p.G217V|STAU2_ENST00000521210.1_Missense_Mutation_p.G285V			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	389	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTTGTTTTCCCCTGTCTGAAA	0.368																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(1069-1071)gGg>gTg		staufen double-stranded RNA binding protein 2							139.0	135.0	137.0					8																	74495061		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74495061C>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.506G>T	8.37:g.74495061C>A	ENSP00000428476:p.Gly169Val					STAU2_ENST00000522695.1_Missense_Mutation_p.G357V|STAU2_ENST00000522509.1_Missense_Mutation_p.G357V|STAU2_ENST00000523558.1_Missense_Mutation_p.G217V|STAU2_ENST00000517542.1_Missense_Mutation_p.G351V|STAU2_ENST00000524300.1_Missense_Mutation_p.G389V|STAU2_ENST00000521451.1_Missense_Mutation_p.G169V|STAU2_ENST00000519961.1_Missense_Mutation_p.G389V|STAU2_ENST00000521727.1_Missense_Mutation_p.G369V|STAU2_ENST00000521210.1_Missense_Mutation_p.G285V	p.G357V	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		11	1288	-	Breast(64;0.0138)		389			DRBM 4.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521451.1	37	c.1070G>T		.	.	.	.	.	.	.	.	.	.	C	12.34	1.909234	0.33721	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000523533;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542;ENST00000518767;ENST00000518502	T;T;T;T;T;T;T;T;T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06;0.06	5.0	4.06	0.47325	.	0.290019	0.39615	N	0.001320	T	0.46833	0.1413	N	0.22421	0.69	0.80722	D	1	B;B;B;B;B;B;B;B	0.15141	0.001;0.007;0.012;0.007;0.001;0.007;0.001;0.002	B;B;B;B;B;B;B;B	0.14578	0.001;0.006;0.011;0.006;0.003;0.009;0.001;0.003	T	0.41610	-0.9499	10	0.41790	T	0.15	-34.1057	12.3243	0.55001	0.1688:0.8312:0.0:0.0	.	369;285;217;285;357;389;357;389	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	V	357;389;217;285;2;357;389;369;169;357;351;217;52	ENSP00000428456:G357V;ENSP00000428756:G389V;ENSP00000428741:G217V;ENSP00000429173:G285V;ENSP00000430511:G2V;ENSP00000348026:G357V;ENSP00000430907:G389V;ENSP00000429973:G369V;ENSP00000428476:G169V;ENSP00000427977:G357V;ENSP00000431111:G351V;ENSP00000429005:G217V;ENSP00000428284:G52V	ENSP00000344030:G217V	G	-	2	0	STAU2	74657615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.233000	0.43027	2.749000	0.94314	0.650000	0.86243	GGG		0.368	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		8	372	8	372	---	---	---	---
FABP9	646480	broad.mit.edu	37	8	82371443	82371443	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:82371443C>A	ENST00000379071.2	-	2	258	c.203G>T	c.(202-204)gGg>gTg	p.G68V	RP11-157I4.4_ENST00000524085.2_RNA	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	fatty acid binding protein 9, testis	68					acrosome assembly (GO:0001675)	acrosomal vesicle (GO:0001669)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			AAATTCTTCCCCCAGCTTGAA	0.403																																						ENST00000379071.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						c.(202-204)gGg>gTg		fatty acid binding protein 9, testis							196.0	189.0	191.0					8																	82371443		2203	4300	6503	SO:0001583	missense	646480						lipid binding|transporter activity	g.chr8:82371443C>A			8q21.13	2013-03-01			ENSG00000205186	ENSG00000205186		"""Fatty acid binding protein family"""	3563	protein-coding gene	gene with protein product						7958448	Standard	NM_001080526		Approved	PERF, T-FABP, PERF15	uc011lfo.2	Q0Z7S8	OTTHUMG00000164601	ENST00000379071.2:c.203G>T	8.37:g.82371443C>A	ENSP00000368362:p.Gly68Val					RP11-157I4.4_ENST00000524085.2_RNA	p.G68V	NM_001080526.1	NP_001073995.1	Q0Z7S8	FABP9_HUMAN	Epithelial(68;0.186)		2	258	-			68						Missense_Mutation	SNP	ENST00000379071.2	37	c.203G>T		.	.	.	.	.	.	.	.	.	.	C	18.20	3.571396	0.65765	.	.	ENSG00000205186	ENST00000379071	T	0.10005	2.92	5.11	3.28	0.37604	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.309778	0.36101	N	0.002783	T	0.38054	0.1026	M	0.90977	3.165	0.58432	D	0.999998	D	0.76494	0.999	D	0.76071	0.987	T	0.47195	-0.9136	10	0.87932	D	0	.	11.2528	0.49037	0.0:0.8431:0.0:0.1569	.	68	Q0Z7S8	FABP9_HUMAN	V	68	ENSP00000368362:G68V	ENSP00000368362:G68V	G	-	2	0	FABP9	82533998	0.895000	0.30542	0.993000	0.49108	0.949000	0.60115	1.855000	0.39378	1.389000	0.46526	-0.137000	0.14449	GGG		0.403	FABP9-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379367.2	NM_001080526		8	500	8	500	---	---	---	---
ATP6V0D2	245972	broad.mit.edu	37	8	87126083	87126083	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:87126083C>A	ENST00000285393.3	+	2	418	c.276C>A	c.(274-276)ccC>ccA	p.P92P	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	92					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CCCTGGAGCCCCTCAGCACAT	0.438																																						ENST00000285393.3																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						c.(274-276)ccC>ccA		ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2							114.0	118.0	117.0					8																	87126083		2203	4300	6503	SO:0001819	synonymous_variant	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87126083C>A	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.276C>A	8.37:g.87126083C>A						CTD-3118D11.2_ENST00000522679.1_RNA	p.P92P	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN			2	418	+			92						Silent	SNP	ENST00000285393.3	37	c.276C>A	CCDS6241.1																																																																																				0.438	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		9	459	9	459	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100883834	100883834	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:100883834C>A	ENST00000358544.2	+	61	11840	c.11729C>A	c.(11728-11730)cCc>cAc	p.P3910H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P3885H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3910					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAGGCCTTCCCCGTCACAGAA	0.557																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(11728-11730)cCc>cAc		vacuolar protein sorting 13 homolog B (yeast)							227.0	177.0	194.0					8																	100883834		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100883834C>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.11729C>A	8.37:g.100883834C>A	ENSP00000351346:p.Pro3910His					VPS13B_ENST00000357162.2_Missense_Mutation_p.P3885H|VPS13B_ENST00000395996.1_3'UTR	p.P3910H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		61	11840	+	Breast(36;3.73e-07)		3910					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.11729C>A	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709042	0.89018	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.72394	-0.65;-0.65	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.81026	-0.1119	10	0.87932	D	0	.	19.4299	0.94759	0.0:1.0:0.0:0.0	.	3885;3910	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	H	3885;3910	ENSP00000349685:P3885H;ENSP00000351346:P3910H	ENSP00000349685:P3885H	P	+	2	0	VPS13B	100953010	1.000000	0.71417	0.981000	0.43875	0.966000	0.64601	7.270000	0.78493	2.607000	0.88179	0.561000	0.74099	CCC		0.557	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		6	262	6	262	---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102570793	102570793	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:102570793C>A	ENST00000251808.3	+	4	769	c.431C>A	c.(430-432)cCc>cAc	p.P144H	GRHL2_ENST00000395927.1_Missense_Mutation_p.P128H	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	144					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ATCAGCTTCCCCGAGAGCTCT	0.522																																						ENST00000251808.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(430-432)cCc>cAc		grainyhead-like 2 (Drosophila)							123.0	120.0	121.0					8																	102570793		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102570793C>A	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.431C>A	8.37:g.102570793C>A	ENSP00000251808:p.Pro144His					GRHL2_ENST00000395927.1_Missense_Mutation_p.P128H	p.P144H	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		4	769	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		144					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.431C>A	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258178	0.23051	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.12984	2.63;2.63	5.1	5.1	0.69264	.	0.587878	0.19343	N	0.116592	T	0.14700	0.0355	L	0.39245	1.2	0.27237	N	0.959259	B;B	0.33448	0.412;0.0	B;B	0.31191	0.125;0.002	T	0.07966	-1.0745	10	0.46703	T	0.11	-1.6395	18.5219	0.90956	0.0:1.0:0.0:0.0	.	144;144	B4DL28;Q6ISB3	.;GRHL2_HUMAN	H	144;128;144	ENSP00000251808:P144H;ENSP00000379260:P128H	ENSP00000251808:P144H	P	+	2	0	GRHL2	102639969	0.138000	0.22547	0.166000	0.22797	0.032000	0.12392	3.830000	0.55768	2.366000	0.80165	0.637000	0.83480	CCC		0.522	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		7	299	7	299	---	---	---	---
NCALD	83988	broad.mit.edu	37	8	102731682	102731682	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:102731682C>A	ENST00000311028.3	-	5	554	c.176G>T	c.(175-177)gGg>gTg	p.G59V	NCALD_ENST00000220931.6_Missense_Mutation_p.G59V|NCALD_ENST00000395923.1_Missense_Mutation_p.G59V|NCALD_ENST00000519508.2_Missense_Mutation_p.G59V|NCALD_ENST00000521599.1_Missense_Mutation_p.G59V|NCALD_ENST00000522951.1_Missense_Mutation_p.G59V	NM_001040624.1|NM_001040626.1	NP_001035714.1|NP_001035716.1	P61601	NCALD_HUMAN	neurocalcin delta	59					calcium-mediated signaling (GO:0019722)|regulation of systemic arterial blood pressure (GO:0003073)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	clathrin coat of trans-Golgi network vesicle (GO:0030130)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			GGAAGCATCCCCATAAGGGAA	0.423																																						ENST00000395923.1																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8						c.(175-177)gGg>gTg		neurocalcin delta							135.0	144.0	141.0					8																	102731682		2203	4300	6503	SO:0001583	missense	83988				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding	g.chr8:102731682C>A	AF052142	CCDS6292.1	8q22.3	2014-08-12			ENSG00000104490	ENSG00000104490		"""EF-hand domain containing"""	7655	protein-coding gene	gene with protein product		606722				11267673	Standard	XM_006716672		Approved		uc003ykk.3	P61601	OTTHUMG00000164876	ENST00000311028.3:c.176G>T	8.37:g.102731682C>A	ENSP00000310587:p.Gly59Val					NCALD_ENST00000311028.3_Missense_Mutation_p.G59V|NCALD_ENST00000519508.2_Missense_Mutation_p.G59V|NCALD_ENST00000521599.1_Missense_Mutation_p.G59V|NCALD_ENST00000220931.6_Missense_Mutation_p.G59V|NCALD_ENST00000522951.1_Missense_Mutation_p.G59V	p.G59V	NM_001040627.1|NM_001040628.1|NM_001040629.1|NM_001040630.1	NP_001035717.1|NP_001035718.1|NP_001035719.1|NP_001035720.1	P61601	NCALD_HUMAN	all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)		4	635	-	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		59					P29554|Q8IYC3|Q9H0W2	Missense_Mutation	SNP	ENST00000311028.3	37	c.176G>T	CCDS6292.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619301	0.87460	.	.	ENSG00000104490	ENST00000395923;ENST00000311028;ENST00000220931;ENST00000521599;ENST00000519508;ENST00000522951;ENST00000522448;ENST00000520690;ENST00000518727;ENST00000520425;ENST00000518166;ENST00000522252;ENST00000517822;ENST00000524209;ENST00000517531;ENST00000521964;ENST00000519098;ENST00000523923;ENST00000520346;ENST00000518661	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.34	5.34	0.76211	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.67287	0.2877	M	0.94142	3.5	0.80722	D	1	D	0.63880	0.993	D	0.66351	0.943	T	0.78046	-0.2357	10	0.87932	D	0	.	19.0263	0.92934	0.0:1.0:0.0:0.0	.	59	P61601	NCALD_HUMAN	V	59	ENSP00000379256:G59V;ENSP00000310587:G59V;ENSP00000220931:G59V;ENSP00000428105:G59V;ENSP00000430476:G59V;ENSP00000428781:G59V;ENSP00000429466:G59V;ENSP00000429255:G59V;ENSP00000430731:G59V;ENSP00000430925:G59V;ENSP00000429522:G59V;ENSP00000428598:G59V;ENSP00000428312:G59V;ENSP00000429493:G59V;ENSP00000429245:G59V;ENSP00000430064:G59V;ENSP00000430534:G59V;ENSP00000428193:G59V;ENSP00000430365:G59V;ENSP00000428093:G59V	ENSP00000220931:G59V	G	-	2	0	NCALD	102800858	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.731000	0.84895	2.474000	0.83562	0.557000	0.71058	GGG		0.423	NCALD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380732.2			7	562	7	562	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106811108	106811108	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:106811108C>A	ENST00000407775.2	+	7	1146	c.896C>A	c.(895-897)cCc>cAc	p.P299H	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P167H|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P167H|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P30H|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	299					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGCCTGTGCCCCTTCCCACAG	0.498																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(895-897)cCc>cAc		zinc finger protein, FOG family member 2							124.0	128.0	126.0					8																	106811108		2039	4207	6246	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106811108C>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.896C>A	8.37:g.106811108C>A	ENSP00000384179:p.Pro299His					RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P167H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P30H|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P167H|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	p.P299H	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	1146	+			299					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.896C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	31	5.084255	0.94100	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.81636	-0.0843	10	0.66056	D	0.02	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	299	Q8WW38	FOG2_HUMAN	H	299;167;167;30	ENSP00000384179:P299H;ENSP00000430757:P167H;ENSP00000428720:P167H;ENSP00000367733:P30H	ENSP00000367733:P30H	P	+	2	0	ZFPM2	106880284	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.880000	0.98712	0.650000	0.86243	CCC		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			7	316	7	316	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106815538	106815538	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:106815538C>A	ENST00000407775.2	+	8	3478	c.3228C>A	c.(3226-3228)ccC>ccA	p.P1076P	RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.P944P|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.P944P|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.P807P|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1076					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACAAATCTCCCTCGTGGATCT	0.478																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(3226-3228)ccC>ccA		zinc finger protein, FOG family member 2							60.0	60.0	60.0					8																	106815538		1934	4128	6062	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815538C>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3228C>A	8.37:g.106815538C>A						RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.P944P|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.P807P|ZFPM2_ENST00000517361.1_Silent_p.P944P|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	p.P1076P	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3478	+			1076					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.3228C>A	CCDS47908.1																																																																																				0.478	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			4	74	4	74	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110412391	110412391	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:110412391G>T	ENST00000378402.5	+	13	1203	c.1099G>T	c.(1099-1101)Ggg>Tgg	p.G367W		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	367					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)			AAAAACGCCTGGGTACATGGG	0.448										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1099-1101)Ggg>Tgg		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							278.0	272.0	274.0					8																	110412391		1867	4100	5967	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412391G>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.1099G>T	8.37:g.110412391G>T	ENSP00000367655:p.Gly367Trp	HNSCC(38;0.096)					p.G367W	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1203	+			367					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1099G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148964	0.57151	.	.	ENSG00000205038	ENST00000378402	T	0.22539	1.95	5.21	5.21	0.72293	PA14 (1);	0.000000	0.64402	D	0.000001	T	0.42743	0.1216	M	0.71206	2.165	0.41617	D	0.988946	D	0.89917	1.0	D	0.75484	0.986	T	0.37291	-0.9712	10	0.72032	D	0.01	.	9.8106	0.40820	0.0942:0.0:0.9058:0.0	.	367	Q86WI1	PKHL1_HUMAN	W	367	ENSP00000367655:G367W	ENSP00000367655:G367W	G	+	1	0	PKHD1L1	110481567	1.000000	0.71417	0.955000	0.39395	0.539000	0.34962	5.546000	0.67243	2.409000	0.81822	0.563000	0.77884	GGG		0.448	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		8	665	8	665	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120759089	120759089	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:120759089G>T	ENST00000378164.2	-	23	3262	c.2964C>A	c.(2962-2964)ccC>ccA	p.P988P	TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	988					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCTCTGGCAAGGGTAAACAGG	0.438																																						ENST00000378164.2																			0				NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49						c.(2962-2964)ccC>ccA		TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa							122.0	113.0	116.0					8																	120759089		2203	4300	6503	SO:0001819	synonymous_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120759089G>T	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2964C>A	8.37:g.120759089G>T							p.P988P	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		23	3262	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		988					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Silent	SNP	ENST00000378164.2	37	c.2964C>A	CCDS34937.1																																																																																				0.438	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		6	323	6	323	---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122626619	122626619	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:122626619C>A	ENST00000303924.4	-	4	1926	c.1389G>T	c.(1387-1389)tgG>tgT	p.W463C		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	463					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGATGTGCCCCACCCAGCTT	0.408																																						ENST00000303924.4																		HAS2/PLAG1(10)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(1387-1389)tgG>tgT		hyaluronan synthase 2							128.0	127.0	128.0					8																	122626619		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122626619C>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1389G>T	8.37:g.122626619C>A	ENSP00000306991:p.Trp463Cys						p.W463C	NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		4	1926	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		463					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.1389G>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927425	0.52759	.	.	ENSG00000170961	ENST00000303924	T	0.76316	-1.01	6.17	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.91078	0.7192	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93361	0.6727	10	0.87932	D	0	-9.9509	17.6945	0.88277	0.0:0.8773:0.1227:0.0	.	463	Q92819	HAS2_HUMAN	C	463	ENSP00000306991:W463C	ENSP00000306991:W463C	W	-	3	0	HAS2	122695800	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.808000	0.86044	1.611000	0.50210	0.655000	0.94253	TGG		0.408	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		8	538	8	538	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123964946	123964946	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:123964946G>T	ENST00000314393.4	+	3	2031	c.1196G>T	c.(1195-1197)gGa>gTa	p.G399V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	399	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G399V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCGTGGCAGGAGTCACCAAC	0.627																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			1	Substitution - Missense(1)	p.G399V(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1195-1197)gGa>gTa		zinc fingers and homeoboxes 2							51.0	57.0	55.0					8																	123964946		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964946G>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1196G>T	8.37:g.123964946G>T	ENSP00000314709:p.Gly399Val						p.G399V	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2031	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		399			Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.			Missense_Mutation	SNP	ENST00000314393.4	37	c.1196G>T	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823202	0.50739	.	.	ENSG00000178764	ENST00000314393	T	0.20738	2.05	5.72	5.72	0.89469	.	0.320352	0.32736	N	0.005701	T	0.36303	0.0962	L	0.34521	1.04	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	T	0.03017	-1.1082	10	0.54805	T	0.06	-13.1157	15.4162	0.74970	0.0:0.0:1.0:0.0	.	399	Q9Y6X8	ZHX2_HUMAN	V	399	ENSP00000314709:G399V	ENSP00000314709:G399V	G	+	2	0	ZHX2	124034127	0.986000	0.35501	0.986000	0.45419	0.751000	0.42716	2.478000	0.45189	2.718000	0.92993	0.485000	0.47835	GGA		0.627	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		25	57	25	57	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124096568	124096568	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:124096568G>T	ENST00000287380.1	+	4	597	c.507G>T	c.(505-507)gtG>gtT	p.V169V	TBC1D31_ENST00000522420.1_Silent_p.V64V|TBC1D31_ENST00000378080.2_Silent_p.V64V|TBC1D31_ENST00000327098.5_Silent_p.V169V|TBC1D31_ENST00000521676.1_Silent_p.V64V|TBC1D31_ENST00000309336.3_Silent_p.V169V	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	169						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										GCCAGTCTGTGGGTATACAGA	0.413																																						ENST00000287380.1																			0											c.(505-507)gtG>gtT		TBC1 domain family, member 31							113.0	108.0	110.0					8																	124096568		2203	4300	6503	SO:0001819	synonymous_variant	93594							g.chr8:124096568G>T	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.507G>T	8.37:g.124096568G>T						TBC1D31_ENST00000309336.3_Silent_p.V169V|TBC1D31_ENST00000522420.1_Silent_p.V64V|TBC1D31_ENST00000521676.1_Silent_p.V64V|TBC1D31_ENST00000327098.5_Silent_p.V169V|TBC1D31_ENST00000378080.2_Silent_p.V64V	p.V169V	NM_145647.3	NP_663622.2					4	597	+								B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Silent	SNP	ENST00000287380.1	37	c.507G>T	CCDS6338.1																																																																																				0.413	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		6	303	6	303	---	---	---	---
ANXA13	312	broad.mit.edu	37	8	124693587	124693587	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:124693587C>A	ENST00000419625.1	-	11	916	c.844G>T	c.(844-846)Ggg>Tgg	p.G282W	ANXA13_ENST00000262219.6_Missense_Mutation_p.G323W	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	282					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GCTTTGATCCCCTGAAGGTCC	0.443																																						ENST00000262219.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(967-969)Ggg>Tgg		annexin A13							154.0	163.0	160.0					8																	124693587		2203	4300	6503	SO:0001583	missense	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124693587C>A	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.844G>T	8.37:g.124693587C>A	ENSP00000390809:p.Gly282Trp					ANXA13_ENST00000419625.1_Missense_Mutation_p.G282W	p.G323W	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		12	1034	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		282					Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	c.967G>T	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261148	0.23051	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	T;T	0.03301	3.98;3.98	5.81	4.02	0.46733	Annexin repeat, conserved site (1);	0.205397	0.52532	D	0.000072	T	0.05823	0.0152	L	0.28400	0.85	0.09310	N	1	P;P	0.45474	0.859;0.83	P;P	0.52957	0.714;0.591	T	0.18147	-1.0346	10	0.87932	D	0	.	6.1958	0.20550	0.148:0.6934:0.0:0.1586	.	282;323	P27216;P27216-2	ANX13_HUMAN;.	W	323;282	ENSP00000262219:G323W;ENSP00000390809:G282W	ENSP00000262219:G323W	G	-	1	0	ANXA13	124762768	0.001000	0.12720	0.878000	0.34440	0.030000	0.12068	-0.060000	0.11712	1.465000	0.48006	-0.137000	0.14449	GGG		0.443	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		8	494	8	494	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	124992823	124992823	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:124992823G>T	ENST00000522917.1	+	11	1388	c.1182G>T	c.(1180-1182)agG>agT	p.R394S	FER1L6_ENST00000399018.1_Missense_Mutation_p.R394S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	394						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGTCATTCAGGGGCAGAATCT	0.512											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(1180-1182)agG>agT		fer-1-like 6 (C. elegans)							164.0	164.0	164.0					8																	124992823		1885	4115	6000	SO:0001583	missense	654463					integral to membrane		g.chr8:124992823G>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.1182G>T	8.37:g.124992823G>T	ENSP00000428280:p.Arg394Ser		OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1538	FER1L6_ENST00000399018.1_Missense_Mutation_p.R394S	p.R394S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		11	1388	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		394						Missense_Mutation	SNP	ENST00000522917.1	37	c.1182G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614245	0.66672	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.85088	-1.94;-1.94	5.53	3.74	0.42951	C2 calcium/lipid-binding domain, CaLB (1);	0.066446	0.56097	U	0.000022	D	0.92348	0.7572	M	0.89534	3.04	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	D	0.91453	0.5183	10	0.72032	D	0.01	.	8.351	0.32303	0.2955:0.0:0.7045:0.0	.	394	Q2WGJ9	FR1L6_HUMAN	S	394	ENSP00000428280:R394S;ENSP00000381982:R394S	ENSP00000381982:R394S	R	+	3	2	FER1L6	125062004	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.957000	0.29215	0.712000	0.32039	-0.136000	0.14681	AGG		0.512	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		8	352	8	352	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131138263	131138263	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:131138263C>A	ENST00000518721.1	-	17	1681	c.1454G>T	c.(1453-1455)gGg>gTg	p.G485V	ASAP1_ENST00000357668.1_Missense_Mutation_p.G485V	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	485	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AATATGAACCCCCATTTCCCT	0.398																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(1453-1455)gGg>gTg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							91.0	86.0	88.0					8																	131138263		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131138263C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1454G>T	8.37:g.131138263C>A	ENSP00000429900:p.Gly485Val					ASAP1_ENST00000518721.1_Missense_Mutation_p.G485V	p.G485V			Q9ULH1	ASAP1_HUMAN			16	1481	-			485			Arf-GAP.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1454G>T	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.004700	0.93287	.	.	ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721	T;T	0.55413	0.52;0.52	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.85881	0.5800	H	0.99507	4.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.91473	0.5198	10	0.87932	D	0	.	19.4269	0.94746	0.0:1.0:0.0:0.0	.	485;485;488	B2RNV3;Q9ULH1;Q9ULH1-2	.;ASAP1_HUMAN;.	V	488;485;485	ENSP00000350297:G485V;ENSP00000429900:G485V	ENSP00000344591:G488V	G	-	2	0	ASAP1	131207445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.440000	0.80464	2.836000	0.97738	0.655000	0.94253	GGG		0.398	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		6	308	6	308	---	---	---	---
ZFAT	57623	broad.mit.edu	37	8	135524772	135524772	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:135524772C>A	ENST00000377838.3	-	14	3481	c.3307G>T	c.(3307-3309)Ggg>Tgg	p.G1103W	ZFAT_ENST00000520214.1_Missense_Mutation_p.G1091W|ZFAT_ENST00000520727.1_Missense_Mutation_p.G1091W|ZFAT_ENST00000429442.2_Missense_Mutation_p.G1091W|ZFAT_ENST00000517307.1_5'Flank|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.G1041W	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1103					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCCTGTGTCCCTTGAACGTCT	0.527																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3271-3273)Ggg>Tgg		zinc finger and AT hook domain containing							164.0	174.0	170.0					8																	135524772		2004	4171	6175	SO:0001583	missense	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135524772C>A	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3307G>T	8.37:g.135524772C>A	ENSP00000367069:p.Gly1103Trp					ZFAT_ENST00000429442.2_Missense_Mutation_p.G1091W|ZFAT_ENST00000377838.3_Missense_Mutation_p.G1103W|ZFAT_ENST00000520214.1_Missense_Mutation_p.G1091W|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000523399.1_Missense_Mutation_p.G1041W	p.G1091W	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		15	3570	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		1103					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	c.3271G>T	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611172	0.46631	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T	0.15718	2.6;2.4;2.59;2.6;2.63	4.8	3.92	0.45320	.	0.242826	0.42964	D	0.000622	T	0.27933	0.0688	L	0.29908	0.895	0.48975	D	0.999736	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.978	T	0.01894	-1.1252	10	0.44086	T	0.13	-33.1874	12.3768	0.55285	0.0:0.9188:0.0:0.0812	.	222;1041;1103	B7Z741;E9PER3;Q9P243	.;.;ZFAT_HUMAN	W	1091;1091;1103;1091;990;1041	ENSP00000427831:G1091W;ENSP00000394501:G1091W;ENSP00000367069:G1103W;ENSP00000428483:G1091W;ENSP00000429091:G1041W	ENSP00000326997:G990W	G	-	1	0	ZFAT	135593954	1.000000	0.71417	0.991000	0.47740	0.095000	0.18619	5.817000	0.69229	1.383000	0.46405	0.563000	0.77884	GGG		0.527	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		8	498	8	498	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139737668	139737668	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:139737668G>T	ENST00000303045.6	-	24	2601	c.2155C>A	c.(2155-2157)Cct>Act	p.P719T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P719T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	719	Collagen-like 5.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGACACCAGGGGGTCCTGGA	0.582										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(2155-2157)Cct>Act		collagen, type XXII, alpha 1							51.0	59.0	56.0					8																	139737668		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139737668G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2155C>A	8.37:g.139737668G>T	ENSP00000303153:p.Pro719Thr	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P719T	p.P719T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		24	2601	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		719			Collagen-like 5.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.2155C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.700930	0.30142	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.98666	-5.06;-5.06	4.94	4.07	0.47477	.	0.000000	0.49916	D	0.000132	D	0.97949	0.9325	M	0.68728	2.09	0.44539	D	0.997494	P;P	0.47409	0.872;0.895	P;P	0.52598	0.578;0.703	D	0.96612	0.9453	10	0.22706	T	0.39	.	9.9387	0.41567	0.0965:0.0:0.9035:0.0	.	719;719	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	T	719;719;432	ENSP00000303153:P719T;ENSP00000387655:P719T	ENSP00000303153:P719T	P	-	1	0	COL22A1	139806850	0.982000	0.34865	0.638000	0.29380	0.820000	0.46376	2.896000	0.48656	1.390000	0.46547	-0.140000	0.14226	CCT		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		7	229	7	229	---	---	---	---
RPL8	6132	broad.mit.edu	37	8	146015222	146015222	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:146015222C>A	ENST00000262584.3	-	6	973	c.741G>T	c.(739-741)cgG>cgT	p.R247R	RPL8_ENST00000528957.1_Silent_p.R247R|ZNF34_ENST00000429371.2_5'Flank|RPL8_ENST00000527914.1_Silent_p.R138R|RPL8_ENST00000529163.1_5'UTR|ZNF34_ENST00000343459.4_5'Flank|RPL8_ENST00000394920.2_Silent_p.R247R	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	247					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		TCTTGGTTCCCCGGAGACGTC	0.587																																						ENST00000262584.3																			0				kidney(12)|lung(7)|prostate(1)	20						c.(739-741)cgG>cgT		ribosomal protein L8							137.0	141.0	140.0					8																	146015222		2203	4300	6503	SO:0001819	synonymous_variant	6132				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr8:146015222C>A	Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.741G>T	8.37:g.146015222C>A						RPL8_ENST00000394920.2_Silent_p.R247R|RPL8_ENST00000527914.1_Silent_p.R138R|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000528957.1_Silent_p.R247R	p.R247R	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)	6	973	-	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		247					A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Silent	SNP	ENST00000262584.3	37	c.741G>T	CCDS6433.1																																																																																				0.587	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382948.1	NM_000973		9	493	9	493	---	---	---	---
DMRT2	10655	broad.mit.edu	37	9	1056357	1056357	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:1056357G>T	ENST00000358146.2	+	3	770	c.770G>T	c.(769-771)aGg>aTg	p.R257M	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000382251.3_Missense_Mutation_p.R257M|DMRT2_ENST00000302441.6_Missense_Mutation_p.R257M|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	257					embryonic skeletal system development (GO:0048706)|positive regulation of myotome development (GO:2000287)|regulation of somitogenesis (GO:0014807)|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(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TATAAAGAAAGGGAGATGTTG	0.478																																						ENST00000382251.3																			0				large_intestine(1)|lung(1)|prostate(2)	4						c.(769-771)aGg>aTg		doublesex and mab-3 related transcription factor 2							106.0	106.0	106.0					9																	1056357		2203	4300	6503	SO:0001583	missense	10655				male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:1056357G>T	AF130729	CCDS6444.1, CCDS6445.1	9p24.3	2008-07-21			ENSG00000173253	ENSG00000173253			2935	protein-coding gene	gene with protein product	"""terra-like protein"""	604935				10332030	Standard	NM_181872		Approved		uc003zha.3	Q9Y5R5	OTTHUMG00000019437	ENST00000358146.2:c.770G>T	9.37:g.1056357G>T	ENSP00000350865:p.Arg257Met					DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.R257M|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.R257M	p.R257M			Q9Y5R5	DMRT2_HUMAN		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)	5	1099	+		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)	257					B1ANC0|B9EGJ1|Q9NPG6|Q9NQR6	Missense_Mutation	SNP	ENST00000358146.2	37	c.770G>T	CCDS6444.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855418	0.71719	.	.	ENSG00000173253	ENST00000382251;ENST00000302441;ENST00000358146	T;T;T	0.36157	1.27;1.27;1.27	5.42	5.42	0.78866	.	0.227100	0.44483	D	0.000452	T	0.61048	0.2316	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.63571	-0.6607	10	0.87932	D	0	-19.9264	18.8147	0.92072	0.0:0.0:1.0:0.0	.	257;101	Q9Y5R5;Q5HYK2	DMRT2_HUMAN;.	M	257	ENSP00000371686:R257M;ENSP00000305785:R257M;ENSP00000350865:R257M	ENSP00000305785:R257M	R	+	2	0	DMRT2	1046357	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.062000	0.89475	2.558000	0.86282	0.585000	0.79938	AGG		0.478	DMRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051492.1	NM_006557		6	266	6	266	---	---	---	---
SMARCA2	6595	broad.mit.edu	37	9	2073246	2073246	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:2073246C>A	ENST00000382203.1	+	11	1990	c.1781C>A	c.(1780-1782)cCt>cAt	p.P594H	SMARCA2_ENST00000382194.1_Missense_Mutation_p.P594H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P594H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.P594H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	594					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGTGACCTCCCTGTCAAAGTG	0.517																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1780-1782)cCt>cAt		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							79.0	81.0	80.0					9																	2073246		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2073246C>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1781C>A	9.37:g.2073246C>A	ENSP00000371638:p.Pro594His					SMARCA2_ENST00000349721.2_Missense_Mutation_p.P594H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P594H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P594H	p.P594H			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	11	1990	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	594					B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.1781C>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280792	0.80692	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.74	5.74	0.90152	BRK domain (2);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	L	0.33137	0.985	0.80722	D	1	B;D;D	0.89917	0.02;1.0;1.0	B;D;D	0.91635	0.029;0.999;0.999	T	0.49698	-0.8912	10	0.21014	T	0.42	-15.067	19.9306	0.97117	0.0:1.0:0.0:0.0	.	195;594;594	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	H	594	ENSP00000265773:P594H;ENSP00000349788:P594H;ENSP00000371638:P594H;ENSP00000371629:P594H	ENSP00000265773:P594H	P	+	2	0	SMARCA2	2063246	1.000000	0.71417	0.973000	0.42090	0.978000	0.69477	7.702000	0.84576	2.732000	0.93576	0.591000	0.81541	CCT		0.517	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		4	81	4	81	---	---	---	---
ERMP1	79956	broad.mit.edu	37	9	5811200	5811200	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:5811200G>T	ENST00000339450.5	-	7	1327	c.1238C>A	c.(1237-1239)cCc>cAc	p.P413H	ERMP1_ENST00000381506.3_Missense_Mutation_p.P189H|ERMP1_ENST00000543230.1_5'Flank|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	413						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AATACGAGAGGGGTAGGCAAT	0.418																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(1237-1239)cCc>cAc		endoplasmic reticulum metallopeptidase 1							174.0	146.0	156.0					9																	5811200		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5811200G>T	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1238C>A	9.37:g.5811200G>T	ENSP00000340427:p.Pro413His					ERMP1_ENST00000381506.3_Missense_Mutation_p.P189H|ERMP1_ENST00000214893.5_5'UTR	p.P413H	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	7	1327	-		Acute lymphoblastic leukemia(23;0.158)	413					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1238C>A	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951941	0.92660	.	.	ENSG00000099219	ENST00000339450;ENST00000381506	T	0.52295	0.67	5.9	5.9	0.94986	.	0.053993	0.85682	D	0.000000	T	0.64294	0.2585	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.63821	-0.6550	10	0.72032	D	0.01	-18.4942	20.2822	0.98520	0.0:0.0:1.0:0.0	.	413	Q7Z2K6	ERMP1_HUMAN	H	413;189	ENSP00000340427:P413H	ENSP00000340427:P413H	P	-	2	0	ERMP1	5801200	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	9.832000	0.99423	2.806000	0.96561	0.655000	0.94253	CCC		0.418	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		6	185	6	185	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8518276	8518276	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:8518276C>A	ENST00000381196.4	-	18	1658	c.1115G>T	c.(1114-1116)gGg>gTg	p.G372V	PTPRD_ENST00000486161.1_Missense_Mutation_p.G372V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G372V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G372V|PTPRD_ENST00000356435.5_Missense_Mutation_p.G372V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G362V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G369V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G359V|PTPRD_ENST00000537002.1_Missense_Mutation_p.G369V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G362V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G359V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	372	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTCGCCACCCCATCAATTTC	0.478										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1114-1116)gGg>gTg		protein tyrosine phosphatase, receptor type, D							136.0	141.0	139.0					9																	8518276		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518276C>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1115G>T	9.37:g.8518276C>A	ENSP00000370593:p.Gly372Val	TSP Lung(15;0.13)				PTPRD_ENST00000537002.1_Missense_Mutation_p.G369V|PTPRD_ENST00000397611.3_Missense_Mutation_p.G369V|PTPRD_ENST00000540109.1_Missense_Mutation_p.G372V|PTPRD_ENST00000486161.1_Missense_Mutation_p.G372V|PTPRD_ENST00000397606.3_Missense_Mutation_p.G362V|PTPRD_ENST00000360074.4_Missense_Mutation_p.G359V|PTPRD_ENST00000358503.5_Missense_Mutation_p.G359V|PTPRD_ENST00000397617.3_Missense_Mutation_p.G362V|PTPRD_ENST00000355233.5_Missense_Mutation_p.G372V|PTPRD_ENST00000356435.5_Missense_Mutation_p.G372V	p.G372V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	18	1658	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	372			Fibronectin type-III 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1115G>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	8.035	0.762512	0.15914	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.35	4.45	0.53987	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	L	0.49455	1.56	0.80722	D	1	P;P;D;P;B;P;D;D;P	0.89917	0.755;0.947;0.987;0.537;0.217;0.946;0.987;1.0;0.886	P;P;D;B;B;P;P;D;P	0.97110	0.593;0.83;0.953;0.297;0.138;0.848;0.761;1.0;0.513	T	0.68469	-0.5400	9	.	.	.	.	13.9782	0.64285	0.0:0.9265:0.0:0.0735	.	362;366;372;372;369;369;359;372;372	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	V	372;372;359;359;372;362;369;369;372;372;372;362	ENSP00000370593:G372V;ENSP00000348812:G372V;ENSP00000353187:G359V;ENSP00000351293:G359V;ENSP00000347373:G372V;ENSP00000380741:G362V;ENSP00000380735:G369V;ENSP00000440515:G369V;ENSP00000438164:G372V;ENSP00000417093:G372V;ENSP00000380731:G362V	.	G	-	2	0	PTPRD	8508276	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	5.729000	0.68538	1.251000	0.43983	0.460000	0.39030	GGG		0.478	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			8	252	8	252	---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13168467	13168467	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:13168467C>A	ENST00000319217.7	-	22	3399	c.3152G>T	c.(3151-3153)gGg>gTg	p.G1051V	MPDZ_ENST00000381015.4_Missense_Mutation_p.G1051V|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1051V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000538841.1_5'Flank	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1051	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GATGCAGTCCCCAATGGCAAT	0.463																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(3151-3153)gGg>gTg		multiple PDZ domain protein							214.0	209.0	210.0					9																	13168467		1975	4164	6139	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13168467C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.3152G>T	9.37:g.13168467C>A	ENSP00000320006:p.Gly1051Val					MPDZ_ENST00000536827.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1051V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1051V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1051V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1051V	p.G1051V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	22	3399	-			1051			PDZ 6.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.3152G>T		.	.	.	.	.	.	.	.	.	.	C	23.9	4.473928	0.84640	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26;0.26;0.26	5.12	5.12	0.69794	.	0.000000	0.40640	N	0.001053	D	0.84804	0.5553	H	0.96633	3.855	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	0.90092	0.4178	10	0.87932	D	0	.	18.9337	0.92577	0.0:1.0:0.0:0.0	.	1051;1051;1051	B7ZMI4;O75970-3;O75970-2	.;.;.	V	1051;1051;1051;57;1051;1051;1051;1001;1051	ENSP00000320006:G1051V;ENSP00000439807:G1051V;ENSP00000370410:G1051V;ENSP00000444230:G57V;ENSP00000444151:G1051V;ENSP00000415208:G1051V;ENSP00000370403:G1051V;ENSP00000446358:G1051V	ENSP00000320006:G1051V	G	-	2	0	MPDZ	13158467	1.000000	0.71417	0.994000	0.49952	0.776000	0.43924	7.445000	0.80570	2.540000	0.85666	0.655000	0.94253	GGG		0.463	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		9	448	9	448	---	---	---	---
IFNA21	3452	broad.mit.edu	37	9	21166427	21166427	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:21166427G>T	ENST00000380225.1	-	1	232	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	62					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCCTCCTGGGGGAATCCAAA	0.512																																						ENST00000380225.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14						c.(184-186)cCc>cAc		interferon, alpha 21							139.0	140.0	140.0					9																	21166427		2203	4300	6503	SO:0001583	missense	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166427G>T		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.185C>A	9.37:g.21166427G>T	ENSP00000369574:p.Pro62His						p.P62H	NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	232	-			62					Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	c.185C>A	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	17.53	3.413322	0.62511	.	.	ENSG00000137080	ENST00000380225	T	0.34275	1.37	4.02	4.02	0.46733	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.85682	D	0.000000	T	0.69142	0.3078	H	0.96460	3.825	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.66412	-0.5930	10	0.87932	D	0	.	11.6126	0.51069	0.0:0.0:1.0:0.0	.	62	P01568	IFN21_HUMAN	H	62	ENSP00000369574:P62H	ENSP00000369574:P62H	P	-	2	0	IFNA21	21156427	0.447000	0.25673	0.045000	0.18777	0.473000	0.32948	2.614000	0.46359	2.080000	0.62538	0.644000	0.83932	CCC		0.512	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		7	314	7	314	---	---	---	---
ACO1	48	broad.mit.edu	37	9	32420870	32420870	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:32420870G>T	ENST00000309951.6	+	8	953	c.815G>T	c.(814-816)gGg>gTg	p.G272V	ACO1_ENST00000541043.1_Missense_Mutation_p.G173V|ACO1_ENST00000379923.1_Missense_Mutation_p.G272V	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	272					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGCCAGGTTGGGGTAGTGGGC	0.483																																						ENST00000309951.6																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(814-816)gGg>gTg		aconitase 1, soluble							153.0	149.0	150.0					9																	32420870		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32420870G>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.815G>T	9.37:g.32420870G>T	ENSP00000309477:p.Gly272Val					ACO1_ENST00000541043.1_Missense_Mutation_p.G173V|ACO1_ENST00000379923.1_Missense_Mutation_p.G272V	p.G272V	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	8	953	+								D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.815G>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856961	0.91433	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.61158	0.13;0.13;0.13	5.62	5.62	0.85841	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (3);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.87402	0.6168	H	0.99415	4.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.92731	0.6200	10	0.87932	D	0	-7.9122	18.4318	0.90628	0.0:0.0:1.0:0.0	.	308;272	Q59FI0;P21399	.;ACOC_HUMAN	V	308;272;272;272;173	ENSP00000309477:G272V;ENSP00000369255:G272V;ENSP00000438733:G173V	ENSP00000309477:G272V	G	+	2	0	ACO1	32410870	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.662000	0.90505	0.591000	0.81541	GGG		0.483	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		6	252	6	252	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32631563	32631563	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:32631563C>A	ENST00000242310.4	-	1	4104	c.4015G>T	c.(4015-4017)Ggg>Tgg	p.G1339W	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1339					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATTTTGGTCCCTTCAACCTTG	0.428																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(4015-4017)Ggg>Tgg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							234.0	236.0	235.0					9																	32631563		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32631563C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4015G>T	9.37:g.32631563C>A	ENSP00000418379:p.Gly1339Trp						p.G1339W	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	4104	-			1339					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.4015G>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867302	0.72065	.	.	ENSG00000122728	ENST00000242310	T	0.12147	2.71	1.56	1.56	0.23342	.	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	M	0.64997	1.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.01626	-1.1309	10	0.87932	D	0	.	8.618	0.33845	0.0:1.0:0.0:0.0	.	1339	Q8IZX4	TAF1L_HUMAN	W	1339	ENSP00000418379:G1339W	ENSP00000418379:G1339W	G	-	1	0	TAF1L	32621563	1.000000	0.71417	0.996000	0.52242	0.818000	0.46254	5.098000	0.64548	0.507000	0.28148	0.195000	0.17529	GGG		0.428	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			11	620	11	620	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633778	32633778	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:32633778C>A	ENST00000242310.4	-	1	1889	c.1800G>T	c.(1798-1800)cgG>cgT	p.R600R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	600					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAAAGGTGCCCCGAAGACCCT	0.488																																						ENST00000242310.4																			0				breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1798-1800)cgG>cgT		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							152.0	160.0	157.0					9																	32633778		2203	4300	6503	SO:0001819	synonymous_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633778C>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1800G>T	9.37:g.32633778C>A						RP11-555J4.4_ENST00000430787.1_RNA	p.R600R	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1889	-			600					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.1800G>T	CCDS35003.1																																																																																				0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			7	405	7	405	---	---	---	---
PRSS3	5646	broad.mit.edu	37	9	33796754	33796754	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:33796754C>A	ENST00000361005.5	+	2	325	c.325C>A	c.(325-327)Ctc>Atc	p.L109I	PRSS3_ENST00000379405.3_Missense_Mutation_p.L52I|PRSS3_ENST00000429677.3_Missense_Mutation_p.L45I|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.L66I	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	109	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CGGTGGCTCCCTCATCAGCGA	0.572																																						ENST00000361005.5																			0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.(325-327)Ctc>Atc		protease, serine, 3							122.0	125.0	124.0					9																	33796754		2203	4300	6503	SO:0001583	missense	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33796754C>A		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.325C>A	9.37:g.33796754C>A	ENSP00000354280:p.Leu109Ile					RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.L45I|PRSS3_ENST00000342836.4_Missense_Mutation_p.L66I|PRSS3_ENST00000379405.3_Missense_Mutation_p.L52I	p.L109I	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		2	325	+			109			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	c.325C>A	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790959	0.50102	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	T;T;D;T;D	0.96587	-0.63;-0.7;-4.06;-0.63;-4.06	3.21	3.21	0.36854	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	N	0.13198	0.31	0.51767	D	0.999931	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	1.0;1.0;1.0	D	0.95394	0.8484	10	0.66056	D	0.02	.	12.3047	0.54895	0.0:1.0:0.0:0.0	.	52;109;66	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	I	109;64;66;45;52	ENSP00000354280:L109I;ENSP00000401249:L64I;ENSP00000340889:L66I;ENSP00000401828:L45I;ENSP00000368715:L52I	ENSP00000340889:L66I	L	+	1	0	PRSS3	33786754	1.000000	0.71417	1.000000	0.80357	0.051000	0.14879	5.096000	0.64535	1.538000	0.49270	0.306000	0.20318	CTC		0.572	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		5	156	5	156	---	---	---	---
KIAA1045	23349	broad.mit.edu	37	9	34971620	34971620	+	Silent	SNP	C	C	A	rs201860472	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:34971620C>A	ENST00000242315.3	+	2	407	c.325C>A	c.(325-327)Cgg>Agg	p.R109R	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Silent_p.R109R	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	109							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCGCCCCACCCGGAAGCTGGA	0.602																																						ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(325-327)Cgg>Agg		KIAA1045							122.0	132.0	129.0					9																	34971620		1930	4142	6072	SO:0001819	synonymous_variant	23349						calcium ion binding	g.chr9:34971620C>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.325C>A	9.37:g.34971620C>A						KIAA1045_ENST00000544237.1_Silent_p.R109R|KIAA1045_ENST00000476115.2_Intron	p.R109R	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	407	+			109					B7Z253|Q58FE9|Q5T662	Silent	SNP	ENST00000242315.3	37	c.325C>A	CCDS43796.1																																																																																				0.602	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		5	255	5	255	---	---	---	---
CD72	971	broad.mit.edu	37	9	35618112	35618112	+	Missense_Mutation	SNP	C	C	A	rs150199723		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:35618112C>A	ENST00000396757.1	-	3	253	c.89G>T	c.(88-90)gGg>gTg	p.G30V	CD72_ENST00000378430.3_Missense_Mutation_p.G30V|CD72_ENST00000378431.1_Missense_Mutation_p.G30V|CD72_ENST00000259633.4_Missense_Mutation_p.G30V|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	30					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCATCAGCCCCTGGGTCTAG	0.557																																						ENST00000396757.1																			0				large_intestine(5)|liver(1)|lung(6)	12						c.(88-90)gGg>gTg		CD72 molecule							125.0	129.0	128.0					9																	35618112		2203	4300	6503	SO:0001583	missense	971				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	g.chr9:35618112C>A		CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.89G>T	9.37:g.35618112C>A	ENSP00000379980:p.Gly30Val					CD72_ENST00000378431.1_Missense_Mutation_p.G30V|CD72_ENST00000378430.3_Missense_Mutation_p.G30V|CD72_ENST00000259633.4_Missense_Mutation_p.G30V|CD72_ENST00000490239.1_5'UTR	p.G30V			P21854	CD72_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	253	-			30						Missense_Mutation	SNP	ENST00000396757.1	37	c.89G>T	CCDS6581.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355964	0.41700	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633;ENST00000378431;ENST00000378430	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.36	1.62	0.23740	.	0.702500	0.13224	N	0.404169	T	0.38957	0.1060	L	0.44542	1.39	0.19300	N	0.99997	B;D;D	0.57571	0.007;0.98;0.98	B;P;P	0.52343	0.009;0.696;0.696	T	0.16512	-1.0400	10	0.30854	T	0.27	-12.2062	3.3713	0.07222	0.168:0.1916:0.0:0.6404	.	30;30;30	Q5T4Q8;Q5TLG3;P21854	.;.;CD72_HUMAN	V	30	ENSP00000379980:G30V;ENSP00000259633:G30V;ENSP00000367688:G30V;ENSP00000367687:G30V	ENSP00000259633:G30V	G	-	2	0	CD72	35608112	0.008000	0.16893	0.002000	0.10522	0.011000	0.07611	0.201000	0.17276	0.020000	0.15106	-0.302000	0.09304	GGG		0.557	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052336.1	NM_001782		6	279	6	279	---	---	---	---
NPR2	4882	broad.mit.edu	37	9	35811260	35811260	+	IGR	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:35811260G>T	ENST00000342694.2	+	0	3686				SPAG8_ENST00000396638.2_Silent_p.P261P|SPAG8_ENST00000484764.1_Silent_p.P259P|HINT2_ENST00000474908.1_5'Flank|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000340291.2_Silent_p.P261P|SPAG8_ENST00000479751.1_5'UTR	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TAATGTCTGGGGGTTTCCATA	0.522																																						ENST00000340291.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(781-783)ccC>ccA		sperm associated antigen 8							107.0	126.0	120.0					9																	35811260		2203	4300	6503	SO:0001628	intergenic_variant	26206					acrosomal vesicle|membrane		g.chr9:35811260G>T	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871		9.37:g.35811260G>T						SPAG8_ENST00000396638.2_Silent_p.P261P|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Silent_p.P259P	p.P261P	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		2	907	-	all_epithelial(49;0.161)		261					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Silent	SNP	ENST00000342694.2	37	c.783C>A	CCDS6590.1	.	.	.	.	.	.	.	.	.	.	G	3.961	-0.010234	0.07727	.	.	ENSG00000137098	ENST00000497810	T	0.36878	1.23	5.44	2.59	0.31030	.	0.716543	0.12704	N	0.446105	T	0.33440	0.0863	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	T	0.21586	-1.0241	7	0.44086	T	0.13	-2.6489	6.7109	0.23276	0.291:0.0:0.709:0.0	.	.	.	.	H	259	ENSP00000417462:P259H	ENSP00000417462:P259H	P	-	2	0	SPAG8	35801260	0.024000	0.19004	0.012000	0.15200	0.074000	0.17049	0.723000	0.25939	0.403000	0.25479	0.655000	0.94253	CCC		0.522	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			8	385	8	385	---	---	---	---
FBXO10	26267	broad.mit.edu	37	9	37541291	37541291	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:37541291C>A	ENST00000432825.2	-	2	523	c.475G>T	c.(475-477)Ggg>Tgg	p.G159W	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	159					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCCAACTTCCCCTGCCCTACA	0.562																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(475-477)Ggg>Tgg		F-box protein 10							158.0	163.0	162.0					9																	37541291		2091	4222	6313	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37541291C>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.475G>T	9.37:g.37541291C>A	ENSP00000403802:p.Gly159Trp					FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	p.G159W	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	2	523	-			159					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.475G>T	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.850595	0.71719	.	.	ENSG00000147912	ENST00000432825	T	0.57595	0.39	6.07	6.07	0.98685	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	T	0.66636	0.2809	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66810	-0.5829	10	0.87932	D	0	-31.2116	19.4153	0.94694	0.0:1.0:0.0:0.0	.	159	Q9UK96	FBX10_HUMAN	W	159	ENSP00000403802:G159W	ENSP00000276960:G159W	G	-	1	0	FBXO10	37531291	1.000000	0.71417	0.975000	0.42487	0.316000	0.28119	4.655000	0.61476	2.890000	0.99128	0.650000	0.86243	GGG		0.562	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			7	240	7	240	---	---	---	---
ALDH1B1	219	broad.mit.edu	37	9	38396013	38396013	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:38396013G>T	ENST00000377698.3	+	2	421	c.268G>T	c.(268-270)Ggg>Tgg	p.G90W		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	90					carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CTTCCGCCTGGGGTCCCCATG	0.667																																						ENST00000377698.3																			0				NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32						c.(268-270)Ggg>Tgg		aldehyde dehydrogenase 1 family, member B1	NADH(DB00157)						60.0	66.0	64.0					9																	38396013		2203	4300	6503	SO:0001583	missense	219				carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	g.chr9:38396013G>T	M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.268G>T	9.37:g.38396013G>T	ENSP00000366927:p.Gly90Trp						p.G90W	NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN		GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	2	421	+			90					B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	c.268G>T	CCDS6615.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199794	0.79015	.	.	ENSG00000137124	ENST00000377698	T	0.17054	2.3	5.61	5.61	0.85477	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.64402	D	0.000007	T	0.44435	0.1293	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35919	-0.9769	10	0.87932	D	0	.	17.1365	0.86742	0.0:0.0:1.0:0.0	.	90	P30837	AL1B1_HUMAN	W	90	ENSP00000366927:G90W	ENSP00000366927:G90W	G	+	1	0	ALDH1B1	38386013	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.219000	0.78000	2.650000	0.89964	0.655000	0.94253	GGG		0.667	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1			5	143	5	143	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40773146	40773146	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:40773146C>A	ENST00000602553.1	-	5	2423	c.2129G>T	c.(2128-2130)gGg>gTg	p.G710V	ZNF658_ENST00000377626.3_Missense_Mutation_p.G710V|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	710					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGTTTCTCCCCCGTGTGAAT	0.403																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(2128-2130)gGg>gTg		zinc finger protein 658							172.0	188.0	183.0					9																	40773146		2201	4297	6498	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40773146C>A	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2129G>T	9.37:g.40773146C>A	ENSP00000473484:p.Gly710Val					ZNF658_ENST00000377626.3_Missense_Mutation_p.G710V|ZNF658_ENST00000441795.1_Intron	p.G710V			Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	5	2423	-			710					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2129G>T	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	14.43	2.531984	0.45073	.	.	ENSG00000196409	ENST00000377626	T	0.23552	1.9	1.87	0.947	0.19555	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44244	0.1284	M	0.75150	2.29	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.35101	-0.9802	9	0.87932	D	0	.	6.4827	0.22071	0.0:0.8306:0.0:0.1694	.	710	Q5TYW1	ZN658_HUMAN	V	710	ENSP00000366853:G710V	ENSP00000366853:G710V	G	-	2	0	ZNF658	40763146	0.001000	0.12720	0.440000	0.26846	0.935000	0.57460	0.321000	0.19558	0.357000	0.24183	0.518000	0.50308	GGG		0.403	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160		12	854	12	854	---	---	---	---
APBA1	320	broad.mit.edu	37	9	72131016	72131016	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:72131016G>T	ENST00000265381.4	-	2	1333	c.1111C>A	c.(1111-1113)Ccc>Acc	p.P371T		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	371	Pro-rich.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGCTCGTCGGGGGTGTAAGGC	0.592																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(1111-1113)Ccc>Acc		amyloid beta (A4) precursor protein-binding, family A, member 1							143.0	112.0	123.0					9																	72131016		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131016G>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1111C>A	9.37:g.72131016G>T	ENSP00000265381:p.Pro371Thr						p.P371T	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	1333	-			371			Pro-rich.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.1111C>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.850701	0.71719	.	.	ENSG00000107282	ENST00000265381	T	0.05786	3.39	5.86	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.11067	0.0270	L	0.34521	1.04	0.80722	D	1	D	0.59767	0.986	P	0.50970	0.655	T	0.04825	-1.0924	10	0.48119	T	0.1	-16.9961	17.052	0.86521	0.0:0.1271:0.8729:0.0	.	371	Q02410	APBA1_HUMAN	T	371	ENSP00000265381:P371T	ENSP00000265381:P371T	P	-	1	0	APBA1	71320836	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.474000	0.48178	0.655000	0.94253	CCC		0.592	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		5	163	5	163	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77365581	77365581	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:77365581G>T	ENST00000360774.1	-	30	5293	c.5056C>A	c.(5056-5058)Ctg>Atg	p.L1686M	TRPM6_ENST00000376872.3_Splice_Site_p.L637I|TRPM6_ENST00000376871.3_Splice_Site_p.L519I|TRPM6_ENST00000376864.4_Splice_Site_p.L1686I|TRPM6_ENST00000451710.3_Splice_Site_p.L1686I|TRPM6_ENST00000449912.2_Splice_Site_p.L1681M|TRPM6_ENST00000361255.3_Splice_Site_p.L1681M	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1686					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.L1686L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AATACTCACAGGGAGTTCCTA	0.393																																						ENST00000451710.3																			1	Substitution - coding silent(1)	p.L1686L(1)	endometrium(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(5056-5058)Ctc>Atc		transient receptor potential cation channel, subfamily M, member 6							101.0	102.0	102.0					9																	77365581		2203	4300	6503	SO:0001630	splice_region_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77365581G>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.5057+1C>A	9.37:g.77365581G>T						TRPM6_ENST00000360774.1_Splice_Site_p.L1686M|TRPM6_ENST00000376872.3_Splice_Site_p.L637I|TRPM6_ENST00000361255.3_Splice_Site_p.L1681M|TRPM6_ENST00000449912.2_Splice_Site_p.L1681M|TRPM6_ENST00000376871.3_Splice_Site_p.L519I|TRPM6_ENST00000376864.4_Splice_Site_p.L1686I	p.L1686I			Q9BX84	TRPM6_HUMAN			30	5293	-			1686					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Splice_Site	SNP	ENST00000360774.1	37	c.5056C>A	CCDS6647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.20|14.20	2.465295|2.465295	0.43839|0.43839	.|.	.|.	ENSG00000119121|ENSG00000119121	ENST00000451710;ENST00000376872;ENST00000376871;ENST00000376864|ENST00000360774;ENST00000449912;ENST00000361255	T;T;T;T|T;T;T	0.63096|0.53423	0.63;-0.02;-0.02;0.54|0.62;0.62;0.62	5.7|5.7	1.6|1.6	0.23607|0.23607	.|.	1.393450|1.393450	0.04670|0.04670	N|N	0.410517|0.410517	T|T	0.41511|0.41511	0.1162|0.1162	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;D;P;P;P	.|0.64830	.|0.006;0.994;0.641;0.755;0.755	.|B;P;B;B;P	.|0.62560	.|0.006;0.904;0.293;0.386;0.487	T|T	0.37911|0.37911	-0.9685|-0.9685	8|10	0.27082|0.46703	T|T	0.32|0.11	.|.	1.449|1.449	0.02371|0.02371	0.22:0.157:0.4613:0.1618|0.22:0.157:0.4613:0.1618	.|.	.|519;637;1686;1681;1681	.|Q9BX84-6;Q9BX84-5;Q9BX84;Q9BX84-3;Q9BX84-2	.|.;.;TRPM6_HUMAN;.;.	I|M	1686;637;519;1686|1686;1681;1681	ENSP00000407341:L1686I;ENSP00000366068:L637I;ENSP00000366067:L519I;ENSP00000366060:L1686I|ENSP00000354006:L1686M;ENSP00000396672:L1681M;ENSP00000354962:L1681M	ENSP00000366060:L1686I|ENSP00000354006:L1686M	L|L	-|-	1|1	0|2	TRPM6|TRPM6	76555401|76555401	0.111000|0.111000	0.22076|0.22076	0.160000|0.160000	0.22671|0.22671	0.614000|0.614000	0.37383|0.37383	1.085000|1.085000	0.30840|0.30840	0.743000|0.743000	0.32719|0.32719	-0.157000|-0.157000	0.13467|0.13467	CTC|CTG		0.393	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	Missense_Mutation	5	139	5	139	---	---	---	---
FRMD3	257019	broad.mit.edu	37	9	85925435	85925435	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:85925435C>A	ENST00000304195.3	-	9	1008	c.802G>T	c.(802-804)Ggg>Tgg	p.G268W	FRMD3_ENST00000376434.1_Missense_Mutation_p.G74W|FRMD3_ENST00000376438.1_Missense_Mutation_p.G268W	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	268	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.G164W(1)|p.G268W(1)		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						AATGTCTTCCCTTCAAACTTC	0.408																																						ENST00000304195.3																			2	Substitution - Missense(2)	p.G164W(1)|p.G268W(1)	lung(2)	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						c.(802-804)Ggg>Tgg		FERM domain containing 3							220.0	213.0	215.0					9																	85925435		1838	4096	5934	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:85925435C>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.802G>T	9.37:g.85925435C>A	ENSP00000303508:p.Gly268Trp					FRMD3_ENST00000376438.1_Missense_Mutation_p.G268W|FRMD3_ENST00000376434.1_Missense_Mutation_p.G74W	p.G268W	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN			9	1008	-			268			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.802G>T	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568146	0.86439	.	.	ENSG00000172159	ENST00000376438;ENST00000376434;ENST00000304195;ENST00000431299;ENST00000376422	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.55	5.55	0.83447	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91839	0.5482	10	0.72032	D	0.01	.	19.4867	0.95032	0.0:1.0:0.0:0.0	.	268;268	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	W	268;74;268;37;164	ENSP00000365621:G268W;ENSP00000365617:G74W;ENSP00000303508:G268W;ENSP00000412719:G37W	ENSP00000303508:G268W	G	-	1	0	FRMD3	85115255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.283000	0.78640	2.768000	0.95171	0.655000	0.94253	GGG		0.408	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		8	526	8	526	---	---	---	---
KIF27	55582	broad.mit.edu	37	9	86506251	86506251	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:86506251C>A	ENST00000297814.2	-	6	1911	c.1768G>T	c.(1768-1770)Ggg>Tgg	p.G590W	KIF27_ENST00000376347.1_5'Flank|KIF27_ENST00000334204.2_Missense_Mutation_p.G590W|KIF27_ENST00000413982.1_Missense_Mutation_p.G590W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	590					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATATAATGCCCCAAATGAGTA	0.378																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(1768-1770)Ggg>Tgg		kinesin family member 27							107.0	110.0	109.0					9																	86506251		2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86506251C>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1768G>T	9.37:g.86506251C>A	ENSP00000297814:p.Gly590Trp					KIF27_ENST00000413982.1_Missense_Mutation_p.G590W|KIF27_ENST00000334204.2_Missense_Mutation_p.G590W	p.G590W	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			6	1911	-			590					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.1768G>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257815	0.39896	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.56776	0.44;0.44;0.44	4.54	1.66	0.24008	.	0.639624	0.14234	N	0.332508	T	0.60025	0.2237	L	0.51422	1.61	0.25530	N	0.987282	D;D;D	0.89917	0.969;1.0;0.998	P;D;P	0.67548	0.639;0.952;0.818	T	0.48387	-0.9040	10	0.72032	D	0.01	.	5.7649	0.18221	0.0:0.5234:0.3024:0.1743	.	590;590;590	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	W	590	ENSP00000297814:G590W;ENSP00000401688:G590W;ENSP00000333928:G590W	ENSP00000297814:G590W	G	-	1	0	KIF27	85696071	0.984000	0.35163	0.902000	0.35471	0.812000	0.45895	1.237000	0.32695	0.166000	0.19597	-0.181000	0.13052	GGG		0.378	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		6	281	6	281	---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88938005	88938005	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:88938005C>A	ENST00000375963.3	-	13	2832	c.2660G>T	c.(2659-2661)gGg>gTg	p.G887V	ZCCHC6_ENST00000375961.2_Missense_Mutation_p.G887V|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.G176V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.G764V	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	887	Glu-rich.				RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTCCTCATCCCCTGACCCAGT	0.463																																						ENST00000277141.6																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(526-528)gGg>gTg		zinc finger, CCHC domain containing 6							214.0	175.0	189.0					9																	88938005		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88938005C>A	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2660G>T	9.37:g.88938005C>A	ENSP00000365130:p.Gly887Val					ZCCHC6_ENST00000375963.3_Missense_Mutation_p.G887V|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.G764V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.G887V	p.G176V			Q5VYS8	TUT7_HUMAN			14	2951	-			887					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.527G>T	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120728	0.77436	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.56941	0.43;0.8;0.85;0.87	5.48	5.48	0.80851	.	0.296900	0.37483	N	0.002069	T	0.54679	0.1873	L	0.27053	0.805	0.52501	D	0.999958	D;D	0.58620	0.983;0.972	P;P	0.57502	0.822;0.669	T	0.52487	-0.8569	10	0.45353	T	0.12	-40.5881	14.3995	0.67034	0.1474:0.8526:0.0:0.0	.	764;887	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	V	176;764;887;887	ENSP00000277141:G176V;ENSP00000365127:G764V;ENSP00000365128:G887V;ENSP00000365130:G887V	ENSP00000277141:G176V	G	-	2	0	ZCCHC6	88127825	0.991000	0.36638	1.000000	0.80357	0.933000	0.57130	2.884000	0.48562	2.861000	0.98227	0.650000	0.86243	GGG		0.463	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		7	293	7	293	---	---	---	---
ZCCHC6	79670	broad.mit.edu	37	9	88960033	88960033	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:88960033G>T	ENST00000375963.3	-	5	1028	c.856C>A	c.(856-858)Cca>Aca	p.P286T	ZCCHC6_ENST00000375947.1_Missense_Mutation_p.P119T|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.P286T|ZCCHC6_ENST00000375948.1_5'Flank|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.P286T	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	286					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GGTGTTGGTGGGGGTAACGTA	0.413																																						ENST00000375961.2																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(856-858)Cca>Aca		zinc finger, CCHC domain containing 6							164.0	144.0	150.0					9																	88960033		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88960033G>T	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.856C>A	9.37:g.88960033G>T	ENSP00000365130:p.Pro286Thr					ZCCHC6_ENST00000375963.3_Missense_Mutation_p.P286T|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.P286T|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.P119T	p.P286T			Q5VYS8	TUT7_HUMAN			5	1070	-			286					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.856C>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	32	5.124833	0.94429	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963;ENST00000427388;ENST00000375947	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	0.979;0.979;1.0;1.0	P;P;D;D	0.97110	0.823;0.885;1.0;0.999	T	0.63175	-0.6696	10	0.46703	T	0.11	-8.2383	19.7181	0.96131	0.0:0.0:1.0:0.0	.	286;286;286;286	Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;TUT7_HUMAN	T	286;286;286;119;119	ENSP00000365127:P286T;ENSP00000365128:P286T;ENSP00000365130:P286T;ENSP00000365114:P119T	ENSP00000365114:P119T	P	-	1	0	ZCCHC6	88149853	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.151000	0.77411	2.662000	0.90505	0.591000	0.81541	CCA		0.413	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		7	286	7	286	---	---	---	---
SECISBP2	79048	broad.mit.edu	37	9	91972384	91972384	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:91972384C>A	ENST00000375807.3	+	15	2243	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	SECISBP2_ENST00000339901.4_Silent_p.P651P|SECISBP2_ENST00000534113.2_Silent_p.P656P	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	724					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAACATTCCCTTTGTGTTTG	0.483																																						ENST00000375807.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(2170-2172)ccC>ccA		SECIS binding protein 2							271.0	248.0	256.0					9																	91972384		2203	4300	6503	SO:0001819	synonymous_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91972384C>A	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2172C>A	9.37:g.91972384C>A						SECISBP2_ENST00000339901.4_Silent_p.P651P|SECISBP2_ENST00000534113.2_Silent_p.P656P	p.P724P	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN			15	2243	+			724					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	c.2172C>A	CCDS6683.1																																																																																				0.483	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		7	485	7	485	---	---	---	---
ASPN	54829	broad.mit.edu	37	9	95227269	95227269	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:95227269C>A	ENST00000375544.3	-	5	887	c.644G>T	c.(643-645)gGg>gTg	p.G215V	ASPN_ENST00000375543.1_Missense_Mutation_p.G215V|ASPN_ENST00000395538.3_Missense_Mutation_p.G215V|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	215					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						TTCAAATGCCCCTGGCTCTAT	0.398																																						ENST00000375544.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(643-645)gGg>gTg		asporin							153.0	148.0	150.0					9																	95227269		2203	4300	6503	SO:0001583	missense	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95227269C>A	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.644G>T	9.37:g.95227269C>A	ENSP00000364694:p.Gly215Val					ASPN_ENST00000395538.3_Missense_Mutation_p.G215V|ASPN_ENST00000375543.1_Missense_Mutation_p.G215V|CENPP_ENST00000375587.3_Intron	p.G215V	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN			5	887	-			215					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37	c.644G>T		.	.	.	.	.	.	.	.	.	.	C	22.3	4.274517	0.80580	.	.	ENSG00000106819	ENST00000375544;ENST00000375543;ENST00000395538	T;T;T	0.59502	0.26;0.26;0.26	5.37	4.42	0.53409	.	0.049216	0.85682	D	0.000000	T	0.79499	0.4456	M	0.90814	3.15	0.80722	D	1	D;D	0.71674	0.996;0.998	P;D	0.67231	0.891;0.95	D	0.84308	0.0509	10	0.87932	D	0	.	16.7886	0.85580	0.0:0.8716:0.1284:0.0	.	215;215	Q5TBF2;Q9BXN1	.;ASPN_HUMAN	V	215	ENSP00000364694:G215V;ENSP00000364693:G215V;ENSP00000378909:G215V	ENSP00000364693:G215V	G	-	2	0	ASPN	94267090	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.776000	0.55356	2.692000	0.91855	0.655000	0.94253	GGG		0.398	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		6	345	6	345	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95277239	95277239	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:95277239C>A	ENST00000344604.5	-	4	877	c.728G>T	c.(727-729)gGg>gTg	p.G243V	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.G221V	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	243					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCTGCTGTCCCCCTCACTGTA	0.527																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(727-729)gGg>gTg		extracellular matrix protein 2, female organ and adipocyte specific							220.0	227.0	225.0					9																	95277239		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95277239C>A	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.728G>T	9.37:g.95277239C>A	ENSP00000344758:p.Gly243Val					ECM2_ENST00000444490.2_Missense_Mutation_p.G221V|CENPP_ENST00000375587.3_Intron	p.G243V	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	877	-			243					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.728G>T	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873210	0.33069	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.49139	0.8;0.79	4.9	-4.96	0.03038	.	0.835174	0.10796	N	0.633174	T	0.32041	0.0816	L	0.38531	1.155	0.09310	N	1	B;B;B	0.30439	0.112;0.112;0.279	B;B;B	0.31101	0.058;0.058;0.124	T	0.20571	-1.0271	10	0.42905	T	0.14	.	8.4745	0.33005	0.0:0.2563:0.1078:0.636	.	243;221;221	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	V	221;243	ENSP00000393971:G221V;ENSP00000344758:G243V	ENSP00000344758:G243V	G	-	2	0	ECM2	94317060	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.937000	0.03942	-1.098000	0.03038	-0.181000	0.13052	GGG		0.527	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		10	676	10	676	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95277276	95277276	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:95277276G>T	ENST00000344604.5	-	4	840	c.691C>A	c.(691-693)Cct>Act	p.P231T	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.P209T	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	231					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CTAGATTCAGGGGTCTCTCTC	0.498																																						ENST00000344604.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(691-693)Cct>Act		extracellular matrix protein 2, female organ and adipocyte specific							194.0	207.0	203.0					9																	95277276		2203	4300	6503	SO:0001583	missense	1842				cell-matrix adhesion		integrin binding	g.chr9:95277276G>T	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.691C>A	9.37:g.95277276G>T	ENSP00000344758:p.Pro231Thr					ECM2_ENST00000444490.2_Missense_Mutation_p.P209T|CENPP_ENST00000375587.3_Intron	p.P231T	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN			4	840	-			231					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	ENST00000344604.5	37	c.691C>A	CCDS6698.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305798	0.23736	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.46819	0.86;0.87	4.72	-9.44	0.00603	.	2.410520	0.01383	N	0.013008	T	0.13157	0.0319	N	0.00538	-1.39	0.09310	N	1	B;B;B	0.22003	0.012;0.012;0.063	B;B;B	0.21917	0.003;0.003;0.037	T	0.24297	-1.0164	10	0.33940	T	0.23	.	3.6731	0.08281	0.2692:0.4549:0.1153:0.1606	.	231;209;209	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	T	209;231	ENSP00000393971:P209T;ENSP00000344758:P231T	ENSP00000344758:P231T	P	-	1	0	ECM2	94317097	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.118000	0.01325	-1.589000	0.01625	0.650000	0.86243	CCT		0.498	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		8	578	8	578	---	---	---	---
KLF4	9314	broad.mit.edu	37	9	110248118	110248118	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:110248118C>A	ENST00000374672.4	-	5	1827	c.1354G>T	c.(1354-1356)Ggg>Tgg	p.G452W		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	486					cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|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 factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GGGCGGTGCCCCGTGTGTTTA	0.532																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(1354-1356)Ggg>Tgg		Kruppel-like factor 4 (gut)							120.0	115.0	117.0					9																	110248118		2203	4300	6503	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110248118C>A	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.1354G>T	9.37:g.110248118C>A	ENSP00000363804:p.Gly452Trp						p.G452W	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			5	1827	-			486					B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.1354G>T	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209953	0.58343	.	.	ENSG00000136826	ENST00000374672	T	0.26810	1.71	5.82	5.82	0.92795	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40222	N	0.001146	T	0.69672	0.3137	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81335	-0.0979	10	0.87932	D	0	.	19.719	0.96135	0.0:1.0:0.0:0.0	.	486;452	O43474;O43474-1	KLF4_HUMAN;.	W	452	ENSP00000363804:G452W	ENSP00000363804:G452W	G	-	1	0	KLF4	109287939	1.000000	0.71417	0.987000	0.45799	0.166000	0.22503	7.818000	0.86416	2.756000	0.94617	0.563000	0.77884	GGG		0.532	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		6	233	6	233	---	---	---	---
ACTL7A	10881	broad.mit.edu	37	9	111625668	111625668	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:111625668G>T	ENST00000333999.3	+	1	1066	c.1066G>T	c.(1066-1068)Ggg>Tgg	p.G356W		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	356						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGACCTCATGGGGAACATCCT	0.577																																					Esophageal Squamous(177;1480 3591 17554)	ENST00000333999.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1066-1068)Ggg>Tgg		actin-like 7A							129.0	114.0	119.0					9																	111625668		2203	4300	6503	SO:0001583	missense	10881					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton	g.chr9:111625668G>T	BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.1066G>T	9.37:g.111625668G>T	ENSP00000334300:p.Gly356Trp						p.G356W	NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN			1	1066	+			356					B2RC83|Q5JSV0	Missense_Mutation	SNP	ENST00000333999.3	37	c.1066G>T	CCDS6772.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466572	0.63625	.	.	ENSG00000187003	ENST00000333999	T	0.33438	1.41	5.65	4.53	0.55603	.	0.347490	0.22094	N	0.064708	T	0.55593	0.1930	M	0.86178	2.8	0.42436	D	0.992694	D	0.76494	0.999	D	0.70487	0.969	T	0.60177	-0.7314	10	0.87932	D	0	.	9.877	0.41209	0.1266:0.0:0.8734:0.0	.	356	Q9Y615	ACL7A_HUMAN	W	356	ENSP00000334300:G356W	ENSP00000334300:G356W	G	+	1	0	ACTL7A	110665489	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.338000	0.52128	2.824000	0.97209	0.655000	0.94253	GGG		0.577	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053570.1	NM_006687		5	170	5	170	---	---	---	---
AKAP2	11217	broad.mit.edu	37	9	112898575	112898575	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:112898575C>A	ENST00000259318.7	+	2	265	c.58C>A	c.(58-60)Cca>Aca	p.P20T	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P251T|AKAP2_ENST00000510514.5_Missense_Mutation_p.P251T|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.P251T|AKAP2_ENST00000555236.1_Missense_Mutation_p.P251T|AKAP2_ENST00000374525.1_Missense_Mutation_p.P109T|AKAP2_ENST00000434623.2_Missense_Mutation_p.P109T	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	20										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CACCTCTACCCCACATCCCAT	0.498																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(751-753)Cca>Aca									186.0	171.0	176.0					9																	112898575		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112898575C>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.58C>A	9.37:g.112898575C>A	ENSP00000259318:p.Pro20Thr					AKAP2_ENST00000555236.1_Missense_Mutation_p.P251T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P251T|AKAP2_ENST00000510514.5_Missense_Mutation_p.P251T|AKAP2_ENST00000259318.7_Missense_Mutation_p.P20T|AKAP2_ENST00000434623.2_Missense_Mutation_p.P109T|AKAP2_ENST00000374525.1_Missense_Mutation_p.P109T	p.P251T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	931	+			20					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.751C>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903884	0.33628	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.47869	2.17;2.17;2.17;2.17;1.41;0.83;0.84;1.54	6.03	1.69	0.24217	.	0.256481	0.31809	N	0.007037	T	0.45276	0.1334	L	0.54323	1.7	0.18873	N	0.999989	B;B;P;B;B;B;B;P	0.46706	0.002;0.016;0.883;0.016;0.01;0.328;0.161;0.546	B;B;P;B;B;B;B;B	0.46629	0.005;0.018;0.522;0.018;0.008;0.154;0.154;0.133	T	0.36138	-0.9760	10	0.62326	D	0.03	-4.1394	8.6018	0.33749	0.0:0.6231:0.0:0.3769	.	20;109;103;109;110;251;251;69	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	T	251;251;251;251;109;109;69;20	ENSP00000363654:P251T;ENSP00000305861:P251T;ENSP00000451476:P251T;ENSP00000421522:P251T;ENSP00000404782:P109T;ENSP00000363649:P109T;ENSP00000419268:P69T;ENSP00000259318:P20T	ENSP00000259318:P20T	P	+	1	0	PALM2-AKAP2;AKAP2	111938396	0.001000	0.12720	0.057000	0.19452	0.701000	0.40568	-0.314000	0.08092	0.441000	0.26529	0.655000	0.94253	CCA		0.498	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		7	350	7	350	---	---	---	---
AKAP2	11217	broad.mit.edu	37	9	112898615	112898615	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:112898615C>A	ENST00000259318.7	+	2	305	c.98C>A	c.(97-99)cCg>cAg	p.P33Q	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P264Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.P264Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.P264Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.P264Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.P122Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.P122Q	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	33										breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						TATTCACCCCCGCATAATGGC	0.488																																						ENST00000374530.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						c.(790-792)cCg>cAg									176.0	160.0	165.0					9																	112898615		2203	4300	6503	SO:0001583	missense	445815						enzyme binding	g.chr9:112898615C>A	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.98C>A	9.37:g.112898615C>A	ENSP00000259318:p.Pro33Gln					AKAP2_ENST00000555236.1_Missense_Mutation_p.P264Q|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.P264Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.P264Q|AKAP2_ENST00000259318.7_Missense_Mutation_p.P33Q|AKAP2_ENST00000434623.2_Missense_Mutation_p.P122Q|AKAP2_ENST00000374525.1_Missense_Mutation_p.P122Q	p.P264Q	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN			8	971	+			33					B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Missense_Mutation	SNP	ENST00000259318.7	37	c.791C>A	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660873	0.47572	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	T;T;T;T;T;T;T;T	0.45668	2.24;2.24;2.24;2.24;1.48;0.89;0.9;1.51	5.85	4.89	0.63831	.	0.428594	0.20275	N	0.095571	T	0.48804	0.1520	L	0.51422	1.61	0.21740	N	0.999562	P;D;P;D;D;P;P;P	0.56746	0.865;0.977;0.95;0.977;0.961;0.897;0.897;0.834	B;P;P;P;P;B;B;B	0.55391	0.416;0.775;0.52;0.775;0.601;0.417;0.417;0.339	T	0.42224	-0.9464	10	0.59425	D	0.04	-7.7526	9.4025	0.38442	0.0:0.78:0.1453:0.0747	.	33;122;116;122;123;264;264;82	Q9Y2D5;Q9Y2D5-7;B4E2K2;Q9Y2D5-5;B1ALY1;Q9Y2D5-6;Q9Y2D5-4;C9JVY5	AKAP2_HUMAN;.;.;.;.;.;.;.	Q	264;264;264;264;122;122;82;33	ENSP00000363654:P264Q;ENSP00000305861:P264Q;ENSP00000451476:P264Q;ENSP00000421522:P264Q;ENSP00000404782:P122Q;ENSP00000363649:P122Q;ENSP00000419268:P82Q;ENSP00000259318:P33Q	ENSP00000259318:P33Q	P	+	2	0	PALM2-AKAP2;AKAP2	111938436	0.961000	0.32948	0.967000	0.41034	0.065000	0.16274	1.445000	0.35079	2.941000	0.99782	0.655000	0.94253	CCG		0.488	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065		5	340	5	340	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118949849	118949849	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:118949849C>A	ENST00000328252.3	+	2	1201	c.832C>A	c.(832-834)Cac>Aac	p.H278N	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	278	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCATGGCGCCCACACTGCTCT	0.567																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(832-834)Cac>Aac		pregnancy-associated plasma protein A, pappalysin 1							109.0	101.0	104.0					9																	118949849		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118949849C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.832C>A	9.37:g.118949849C>A	ENSP00000330658:p.His278Asn						p.H278N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			2	1201	+			278			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.832C>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	C	1.915	-0.449806	0.04572	.	.	ENSG00000182752	ENST00000328252	T	0.01705	4.68	6.07	2.08	0.27032	.	0.580030	0.21446	N	0.074402	T	0.01029	0.0034	N	0.16478	0.41	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.48445	-0.9035	10	0.16896	T	0.51	-12.9003	1.4799	0.02434	0.2198:0.4073:0.2074:0.1655	.	278	Q13219	PAPP1_HUMAN	N	278	ENSP00000330658:H278N	ENSP00000330658:H278N	H	+	1	0	PAPPA	117989670	0.250000	0.23951	0.957000	0.39632	0.542000	0.35054	1.829000	0.39121	0.901000	0.36495	0.655000	0.94253	CAC		0.567	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		6	170	6	170	---	---	---	---
PAPPA	5069	broad.mit.edu	37	9	118974050	118974050	+	Missense_Mutation	SNP	C	C	A	rs146832580		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:118974050C>A	ENST00000328252.3	+	4	2126	c.1757C>A	c.(1756-1758)cCc>cAc	p.P586H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	586					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGCAGTGACCCCTGCATGGAG	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19613	0.0		0.0	False		,,,				2504	0.0					ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(1756-1758)cCc>cAc		pregnancy-associated plasma protein A, pappalysin 1							149.0	130.0	136.0					9																	118974050		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118974050C>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1757C>A	9.37:g.118974050C>A	ENSP00000330658:p.Pro586His					PAPPA_ENST00000534838.1_Intron	p.P586H	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			4	2126	+			586					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.1757C>A	CCDS6813.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	28.0	4.879248	0.91740	.	.	ENSG00000182752	ENST00000328252	T	0.02140	4.43	5.64	5.64	0.86602	Peptidase M43, pregnancy-associated plasma-A (1);Metallopeptidase, catalytic domain (1);	0.046925	0.85682	D	0.000000	T	0.16599	0.0399	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.00060	-1.2163	10	0.87932	D	0	-23.9436	20.0666	0.97706	0.0:1.0:0.0:0.0	.	586	Q13219	PAPP1_HUMAN	H	586	ENSP00000330658:P586H	ENSP00000330658:P586H	P	+	2	0	PAPPA	118013871	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.791000	0.62460	2.826000	0.97356	0.561000	0.74099	CCC		0.562	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		6	251	6	251	---	---	---	---
OR1J2	26740	broad.mit.edu	37	9	125273777	125273777	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125273777G>T	ENST00000335302.5	+	1	697	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	233						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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTCAACCAAAGGGATCCACAA	0.498																																						ENST00000335302.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						c.(697-699)Ggg>Tgg		olfactory receptor, family 1, subfamily J, member 2							178.0	144.0	156.0					9																	125273777		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273777G>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.697G>T	9.37:g.125273777G>T	ENSP00000335575:p.Gly233Trp						p.G233W	NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN			1	697	+			233					A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.697G>T	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351349	0.41700	.	.	ENSG00000197233	ENST00000335302	T	0.00304	8.19	4.9	-1.39	0.08997	GPCR, rhodopsin-like superfamily (1);	0.626201	0.13259	U	0.401388	T	0.00936	0.0031	H	0.97077	3.935	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14896	-1.0456	10	0.87932	D	0	.	10.0428	0.42169	0.4502:0.0:0.5498:0.0	.	233	Q8NGS2	OR1J2_HUMAN	W	233	ENSP00000335575:G233W	ENSP00000335575:G233W	G	+	1	0	OR1J2	124313598	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.054000	0.11826	-0.168000	0.10853	-0.157000	0.13467	GGG		0.498	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			6	224	6	224	---	---	---	---
OR1N2	138882	broad.mit.edu	37	9	125316129	125316129	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125316129C>A	ENST00000373688.2	+	1	739	c.681C>A	c.(679-681)ccC>ccA	p.P227P		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCACTGTTCCCCTCCTGCTGA	0.507																																						ENST00000373688.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(679-681)ccC>ccA		olfactory receptor, family 1, subfamily N, member 2							272.0	251.0	258.0					9																	125316129		2203	4300	6503	SO:0001819	synonymous_variant	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316129C>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.681C>A	9.37:g.125316129C>A							p.P227P	NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN			1	739	+			227					A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	ENST00000373688.2	37	c.681C>A	CCDS35123.1																																																																																				0.507	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2			7	345	7	345	---	---	---	---
RC3H2	54542	broad.mit.edu	37	9	125622392	125622392	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125622392G>T	ENST00000373670.1	-	10	2253	c.1653C>A	c.(1651-1653)ccC>ccA	p.P551P	RC3H2_ENST00000423239.2_Silent_p.P551P|RC3H2_ENST00000357244.2_Silent_p.P551P			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	551					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CAGGAGTCTTGGGTGGAGAAC	0.393																																						ENST00000373670.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1651-1653)ccC>ccA		ring finger and CCCH-type domains 2							116.0	117.0	117.0					9																	125622392		1847	4099	5946	SO:0001819	synonymous_variant	54542					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	g.chr9:125622392G>T	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1653C>A	9.37:g.125622392G>T						RC3H2_ENST00000423239.2_Silent_p.P551P|RC3H2_ENST00000357244.2_Silent_p.P551P	p.P551P			Q9HBD1	RC3H2_HUMAN			10	2253	-			551					Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Silent	SNP	ENST00000373670.1	37	c.1653C>A	CCDS43874.1																																																																																				0.393	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835		6	295	6	295	---	---	---	---
RABGAP1	23637	broad.mit.edu	37	9	125760997	125760997	+	Silent	SNP	C	C	A	rs376557437		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:125760997C>A	ENST00000373647.4	+	10	1460	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	442					cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TATTCTGGCCCTTCAGCAAAC	0.373																																						ENST00000373647.4																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						c.(1324-1326)ccC>ccA		RAB GTPase activating protein 1							92.0	94.0	94.0					9																	125760997		2203	4300	6503	SO:0001819	synonymous_variant	23637				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	g.chr9:125760997C>A	AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.1326C>A	9.37:g.125760997C>A							p.P442P	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN			10	1460	+			442					B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Silent	SNP	ENST00000373647.4	37	c.1326C>A	CCDS6848.2																																																																																				0.373	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053976.3	NM_012197		6	264	6	264	---	---	---	---
GOLGA1	2800	broad.mit.edu	37	9	127652687	127652687	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:127652687C>A	ENST00000373555.4	-	16	1811	c.1478G>T	c.(1477-1479)aGg>aTg	p.R493M	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	493	Gln-rich.				protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GAACTCTTCCCTTTGCTTCCG	0.582																																						ENST00000373555.4																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1477-1479)aGg>aTg		golgin A1							220.0	146.0	171.0					9																	127652687		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127652687C>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1478G>T	9.37:g.127652687C>A	ENSP00000362656:p.Arg493Met						p.R493M	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN			16	1811	-			493			Gln-rich.		Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.1478G>T	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771144	0.69992	.	.	ENSG00000136935	ENST00000373555	T	0.26957	1.7	5.24	3.37	0.38596	.	0.125962	0.35067	N	0.003466	T	0.26955	0.0660	L	0.56769	1.78	0.34248	D	0.678417	P	0.52842	0.956	P	0.46975	0.533	T	0.40001	-0.9586	10	0.41790	T	0.15	-2.5509	6.4287	0.21784	0.0:0.7279:0.0:0.2721	.	493	Q92805	GOGA1_HUMAN	M	493	ENSP00000362656:R493M	ENSP00000362656:R493M	R	-	2	0	GOLGA1	126692508	0.995000	0.38212	1.000000	0.80357	0.992000	0.81027	0.788000	0.26872	1.188000	0.43014	0.551000	0.68910	AGG		0.582	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077		7	145	7	145	---	---	---	---
RALGPS1	9649	broad.mit.edu	37	9	129930977	129930977	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:129930977C>A	ENST00000259351.5	+	10	1035	c.768C>A	c.(766-768)ccC>ccA	p.P256P	RALGPS1_ENST00000394022.3_Silent_p.P256P|RALGPS1_ENST00000424082.2_Silent_p.P256P|RALGPS1_ENST00000373434.1_Silent_p.P256P|RALGPS1_ENST00000373436.1_Silent_p.P256P	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	256	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CCACCCTGCCCCATGTGCAGA	0.478																																						ENST00000259351.5																			0				kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(766-768)ccC>ccA		Ral GEF with PH domain and SH3 binding motif 1							196.0	167.0	177.0					9																	129930977		2203	4300	6503	SO:0001819	synonymous_variant	9649				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr9:129930977C>A	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.768C>A	9.37:g.129930977C>A						RALGPS1_ENST00000394022.3_Silent_p.P256P|RALGPS1_ENST00000373436.1_Silent_p.P256P|RALGPS1_ENST00000424082.2_Silent_p.P256P|RALGPS1_ENST00000373434.1_Silent_p.P256P	p.P256P	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN			10	1035	+			256			Ras-GEF.		B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Silent	SNP	ENST00000259351.5	37	c.768C>A	CCDS35143.1																																																																																				0.478	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636		6	280	6	280	---	---	---	---
NUP214	8021	broad.mit.edu	37	9	134090730	134090730	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:134090730G>T	ENST00000359428.5	+	31	5868	c.5724G>T	c.(5722-5724)ggG>ggT	p.G1908G	NUP214_ENST00000451030.1_Silent_p.G1909G|NUP214_ENST00000411637.2_Silent_p.G1898G|NUP214_ENST00000483497.2_Silent_p.G734G			P35658	NU214_HUMAN	nucleoporin 214kDa	1908	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|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)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CGGCCAGTGGGGGCTTTGGAT	0.507			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	ENST00000359428.5				Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	"""DEK, SET, ABL1"""		"""AML, T-ALL"""		0				NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86						c.(5722-5724)ggG>ggT		nucleoporin 214kDa							90.0	91.0	91.0					9																	134090730		2203	4300	6503	SO:0001819	synonymous_variant	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134090730G>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5724G>T	9.37:g.134090730G>T						NUP214_ENST00000411637.2_Silent_p.G1898G|NUP214_ENST00000483497.2_Silent_p.G734G|NUP214_ENST00000451030.1_Silent_p.G1909G	p.G1908G			P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	31	5868	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1908			11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	c.5724G>T	CCDS6940.1																																																																																				0.507	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		5	151	5	151	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138714837	138714837	+	Missense_Mutation	SNP	G	G	T	rs138818284		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:138714837G>T	ENST00000389532.4	-	11	1734	c.1670C>A	c.(1669-1671)cCg>cAg	p.P557Q	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P279Q|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P568Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	557					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGGGAACTCCGGGTCAGCCTG	0.577																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1669-1671)cCg>cAg		calmodulin regulated spectrin-associated protein 1							143.0	155.0	151.0					9																	138714837		2203	4300	6503	SO:0001583	missense	157922					cytoplasm|microtubule		g.chr9:138714837G>T	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1670C>A	9.37:g.138714837G>T	ENSP00000374183:p.Pro557Gln					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P279Q|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P568Q	p.P557Q	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	1734	-			557					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	ENST00000389532.4	37	c.1670C>A	CCDS35176.2	.	.	.	.	.	.	.	.	.	.	G	3.975	-0.007607	0.07773	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.14022	2.56;2.54;2.55	5.05	-10.0	0.00425	.	1.247540	0.05739	N	0.600956	T	0.06188	0.0160	N	0.22421	0.69	0.09310	N	1	B;P	0.40032	0.001;0.699	B;B	0.36504	0.001;0.226	T	0.19321	-1.0309	10	0.87932	D	0	-17.7837	1.9328	0.03331	0.4518:0.1381:0.2528:0.1572	.	557;568	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	Q	557;279;568	ENSP00000374183:P557Q;ENSP00000312463:P279Q;ENSP00000386420:P568Q	ENSP00000312463:P279Q	P	-	2	0	CAMSAP1	137854658	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.883000	0.04170	-2.940000	0.00297	-1.945000	0.00491	CCG		0.577	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		5	366	5	366	---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139357510	139357510	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:139357510G>T	ENST00000371706.3	-	10	4221	c.4188C>A	c.(4186-4188)ccC>ccA	p.P1396P	SEC16A_ENST00000431893.2_Silent_p.P1396P|SEC16A_ENST00000290037.6_Silent_p.P1396P|SEC16A_ENST00000313050.7_Silent_p.P1574P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1396					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTGCTTCATTGGGCGACTTCC	0.552																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(4720-4722)ccC>ccA		SEC16 homolog A (S. cerevisiae)							77.0	88.0	84.0					9																	139357510		2064	4191	6255	SO:0001819	synonymous_variant	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139357510G>T	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4188C>A	9.37:g.139357510G>T						SEC16A_ENST00000371706.3_Silent_p.P1396P|SEC16A_ENST00000431893.2_Silent_p.P1396P|SEC16A_ENST00000290037.6_Silent_p.P1396P	p.P1574P	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	10	4795	-		Myeloproliferative disorder(178;0.0511)	1396					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	ENST00000371706.3	37	c.4722C>A																																																																																					0.552	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		5	121	5	121	---	---	---	---
ENTPD8	377841	broad.mit.edu	37	9	140331457	140331457	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:140331457C>A	ENST00000472938.1	-	4	435	c.419G>T	c.(418-420)aGg>aTg	p.R140M	ENTPD8_ENST00000371506.2_Missense_Mutation_p.R140M|ENTPD8_ENST00000344119.2_Missense_Mutation_p.R140M			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	140					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		AAAGATGTCCCTGGCCTGAGA	0.687																																						ENST00000371506.2																			0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(418-420)aGg>aTg		ectonucleoside triphosphate diphosphohydrolase 8							48.0	53.0	51.0					9																	140331457		2202	4298	6500	SO:0001583	missense	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140331457C>A	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.419G>T	9.37:g.140331457C>A	ENSP00000420531:p.Arg140Met					ENTPD8_ENST00000344119.2_Missense_Mutation_p.R140M|ENTPD8_ENST00000472938.1_Missense_Mutation_p.R140M	p.R140M	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	5	602	-	all_cancers(76;0.0926)		140					A2BG17|Q6UVZ0	Missense_Mutation	SNP	ENST00000472938.1	37	c.419G>T	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693852	0.48202	.	.	ENSG00000188833	ENST00000344119;ENST00000371506;ENST00000472938	T;T;T	0.10960	2.82;2.82;2.82	4.07	-8.14	0.01069	.	3.532660	0.00714	N	0.000850	T	0.16811	0.0404	L	0.52573	1.65	0.09310	N	1	P;P	0.51240	0.943;0.848	P;P	0.53266	0.631;0.722	T	0.45877	-0.9231	10	0.54805	T	0.06	-0.0147	7.9091	0.29780	0.0:0.1461:0.2023:0.6517	.	140;140	Q5MY95-2;Q5MY95	.;ENTP8_HUMAN	M	140	ENSP00000344089:R140M;ENSP00000360561:R140M;ENSP00000420531:R140M	ENSP00000344089:R140M	R	-	2	0	ENTPD8	139451278	0.000000	0.05858	0.000000	0.03702	0.369000	0.29798	-0.179000	0.09768	-2.271000	0.00683	-0.258000	0.10820	AGG		0.687	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585		4	70	4	70	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7262401	7262401	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:7262401C>A	ENST00000361972.4	-	11	1392	c.1302G>T	c.(1300-1302)aaG>aaT	p.K434N	SFMBT2_ENST00000397167.1_Missense_Mutation_p.K434N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	434					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTAGCCGCCCCTTCACACTCA	0.522																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(1300-1302)aaG>aaT		Scm-like with four mbt domains 2							235.0	221.0	226.0					10																	7262401		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7262401C>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1302G>T	10.37:g.7262401C>A	ENSP00000355109:p.Lys434Asn					SFMBT2_ENST00000397167.1_Missense_Mutation_p.K434N	p.K434N	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			11	1392	-			434					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.1302G>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734704	0.48939	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.29917	1.55;1.55	5.4	2.52	0.30459	.	0.089021	0.85682	D	0.000000	T	0.38214	0.1032	M	0.68317	2.08	0.80722	D	1	P	0.47106	0.89	P	0.53490	0.727	T	0.11991	-1.0565	10	0.26408	T	0.33	.	6.0204	0.19626	0.0:0.4981:0.0:0.5019	.	434	Q5VUG0	SMBT2_HUMAN	N	434	ENSP00000355109:K434N;ENSP00000380353:K434N	ENSP00000355109:K434N	K	-	3	2	SFMBT2	7302407	1.000000	0.71417	0.996000	0.52242	0.570000	0.35934	1.872000	0.39549	0.639000	0.30564	0.563000	0.77884	AAG		0.522	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		7	237	7	237	---	---	---	---
DHTKD1	55526	broad.mit.edu	37	10	12155041	12155041	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:12155041C>A	ENST00000263035.4	+	13	2359	c.2297C>A	c.(2296-2298)cCt>cAt	p.P766H		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	766					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GTTGCTTCCCCTAAGATGTTA	0.433																																						ENST00000263035.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(2296-2298)cCt>cAt		dehydrogenase E1 and transketolase domain containing 1							120.0	110.0	114.0					10																	12155041		2203	4300	6503	SO:0001583	missense	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12155041C>A	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2297C>A	10.37:g.12155041C>A	ENSP00000263035:p.Pro766His						p.P766H	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		13	2359	+		Renal(717;0.228)	766					Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	ENST00000263035.4	37	c.2297C>A	CCDS7087.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452283	0.63290	.	.	ENSG00000181192	ENST00000263035	D	0.93019	-3.15	4.99	4.99	0.66335	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98866	1.0764	10	0.87932	D	0	-6.1775	18.2767	0.90085	0.0:1.0:0.0:0.0	.	766	Q96HY7	DHTK1_HUMAN	H	766	ENSP00000263035:P766H	ENSP00000263035:P766H	P	+	2	0	DHTKD1	12195047	1.000000	0.71417	0.736000	0.30914	0.215000	0.24574	7.384000	0.79751	2.322000	0.78497	0.655000	0.94253	CCT		0.433	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	NM_018706		4	129	4	129	---	---	---	---
SEC61A2	55176	broad.mit.edu	37	10	12203061	12203061	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:12203061G>T	ENST00000298428.9	+	10	1197	c.1108G>T	c.(1108-1110)Ggg>Tgg	p.G370W	SEC61A2_ENST00000379020.4_Missense_Mutation_p.G304W|SEC61A2_ENST00000379033.3_Missense_Mutation_p.G348W|SEC61A2_ENST00000304267.8_Missense_Mutation_p.G370W|SEC61A2_ENST00000495368.1_3'UTR	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	370				G -> E (in Ref. 2; BAG63284). {ECO:0000305}.	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)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CTTCATGTTGGGGTCATGTGC	0.423																																						ENST00000379033.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1042-1044)Ggg>Tgg		Sec61 alpha 2 subunit (S. cerevisiae)							205.0	159.0	175.0					10																	12203061		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12203061G>T	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.1108G>T	10.37:g.12203061G>T	ENSP00000298428:p.Gly370Trp					SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000298428.9_Missense_Mutation_p.G370W|SEC61A2_ENST00000304267.8_Missense_Mutation_p.G370W|SEC61A2_ENST00000379020.4_Missense_Mutation_p.G304W	p.G348W	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN			9	1189	+		Renal(717;0.228)	370					A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.1042G>T	CCDS7088.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804084	0.90623	.	.	ENSG00000065665	ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020;ENST00000426560	.	.	.	5.54	5.54	0.83059	SecY subunit domain (2);	0.000000	0.64402	D	0.000003	D	0.85270	0.5658	M	0.93016	3.37	0.80722	D	1	P;D;P	0.58620	0.647;0.983;0.928	P;P;D	0.63192	0.819;0.908;0.912	D	0.86939	0.2078	9	0.48119	T	0.1	-7.4857	18.8446	0.92200	0.0:0.0:1.0:0.0	.	348;370;370	F8W773;Q9H9S3-2;Q9H9S3	.;.;S61A2_HUMAN	W	348;370;370;304;118	.	ENSP00000298428:G370W	G	+	1	0	SEC61A2	12243067	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	9.813000	0.99286	2.764000	0.94973	0.650000	0.86243	GGG		0.423	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		6	231	6	231	---	---	---	---
SEPHS1	22929	broad.mit.edu	37	10	13361211	13361211	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:13361211G>T	ENST00000327347.5	-	9	1485	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	SEPHS1_ENST00000378614.4_Silent_p.P299P|SEPHS1_ENST00000545675.1_3'UTR|SEPHS1_ENST00000537130.1_Silent_p.P303P	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	370					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						CGATGATCCGGGGTTTGTCTA	0.488																																						ENST00000327347.5																			0				cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						c.(1108-1110)ccC>ccA		selenophosphate synthetase 1							237.0	237.0	237.0					10																	13361211		2203	4300	6503	SO:0001819	synonymous_variant	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13361211G>T	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.1110C>A	10.37:g.13361211G>T						SEPHS1_ENST00000537130.1_Silent_p.P303P|SEPHS1_ENST00000378614.4_Silent_p.P299P|SEPHS1_ENST00000545675.1_3'UTR	p.P370P	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN			9	1485	-			370					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Silent	SNP	ENST00000327347.5	37	c.1110C>A	CCDS7098.1																																																																																				0.488	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		8	528	8	528	---	---	---	---
FRMD4A	55691	broad.mit.edu	37	10	13900904	13900904	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:13900904C>A	ENST00000357447.2	-	3	422	c.54G>T	c.(52-54)gaG>gaT	p.E18D	FRMD4A_ENST00000342409.2_Missense_Mutation_p.E34D|FRMD4A_ENST00000358621.4_Missense_Mutation_p.E3D|FRMD4A_ENST00000378503.1_Missense_Mutation_p.E18D	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	18					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						ATCGGCGGCCCTCCGTCATCT	0.498																																						ENST00000357447.2																			0				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						c.(52-54)gaG>gaT		FERM domain containing 4A							134.0	129.0	131.0					10																	13900904		2203	4300	6503	SO:0001583	missense	55691					cytoplasm|cytoskeleton	binding	g.chr10:13900904C>A	AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.54G>T	10.37:g.13900904C>A	ENSP00000350032:p.Glu18Asp					FRMD4A_ENST00000342409.2_Missense_Mutation_p.E34D|FRMD4A_ENST00000378503.1_Missense_Mutation_p.E18D|FRMD4A_ENST00000358621.4_Missense_Mutation_p.E3D	p.E18D	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN			3	422	-			18					A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	c.54G>T	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259248	0.59321	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503;ENST00000264546;ENST00000342409	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.4	3.55	0.40652	Band 4.1 domain (1);	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	L	0.29908	0.895	0.50632	D	0.999886	B;B;P	0.36990	0.233;0.233;0.577	B;B;B	0.40134	0.108;0.138;0.32	T	0.67193	-0.5732	10	0.52906	T	0.07	-16.6644	11.3475	0.49569	0.0:0.8495:0.0:0.1505	.	34;51;18	Q5T378;Q5T376;Q9P2Q2	.;.;FRM4A_HUMAN	D	3;18;18;51;34	ENSP00000351438:E3D;ENSP00000350032:E18D;ENSP00000367764:E18D;ENSP00000264546:E51D;ENSP00000344237:E34D	ENSP00000264546:E51D	E	-	3	2	FRMD4A	13940910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.251000	0.51453	0.665000	0.31066	0.585000	0.79938	GAG		0.498	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027		5	205	5	205	---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24874770	24874770	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:24874770G>T	ENST00000396432.2	-	26	4934	c.4448C>A	c.(4447-4449)cCc>cAc	p.P1483H		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1482					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGTCGTGCTGGGGTCTTTCCT	0.423																																						ENST00000396432.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(4447-4449)cCc>cAc		Rho GTPase activating protein 21							289.0	266.0	274.0					10																	24874770		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24874770G>T	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4448C>A	10.37:g.24874770G>T	ENSP00000379709:p.Pro1483His						p.P1483H	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN			26	4934	-			1482					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.4448C>A	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315384	0.40996	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.10960	2.82	4.78	-5.48	0.02592	.	2.264530	0.01663	N	0.025184	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41106	-0.9527	10	0.72032	D	0.01	.	4.3549	0.11174	0.1952:0.1049:0.5309:0.169	.	1482	Q5T5U3	RHG21_HUMAN	H	1483;932	ENSP00000379709:P1483H	ENSP00000379709:P1483H	P	-	2	0	ARHGAP21	24914776	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-3.675000	0.00396	-0.628000	0.05582	0.591000	0.81541	CCC		0.423	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	NM_020824		9	589	9	589	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26849107	26849107	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:26849107G>T	ENST00000376236.4	+	12	1684	c.1229G>T	c.(1228-1230)tGg>tTg	p.W410L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	410	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						CTTAACCAGTGGGTCATGGGA	0.502																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1228-1230)tGg>tTg		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							136.0	120.0	126.0					10																	26849107		2203	4300	6503	SO:0001583	missense	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26849107G>T	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.1229G>T	10.37:g.26849107G>T	ENSP00000365411:p.Trp410Leu						p.W410L	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			12	1684	+			410			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Missense_Mutation	SNP	ENST00000376236.4	37	c.1229G>T	CCDS31167.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728681	0.69074	.	.	ENSG00000077420	ENST00000445780;ENST00000376236	D	0.88354	-2.37	5.4	5.4	0.78164	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.95449	0.8522	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95920	0.8930	10	0.87932	D	0	.	18.0917	0.89477	0.0:0.0:1.0:0.0	.	410	Q7Z5R6	AB1IP_HUMAN	L	410	ENSP00000365411:W410L	ENSP00000365411:W410L	W	+	2	0	APBB1IP	26889113	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.501000	0.97979	2.676000	0.91093	0.650000	0.86243	TGG		0.502	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		6	161	6	161	---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31137869	31137869	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:31137869G>T	ENST00000361310.3	-	6	1794	c.1465C>A	c.(1465-1467)Cct>Act	p.P489T	ZNF438_ENST00000452305.1_Missense_Mutation_p.P479T|ZNF438_ENST00000413025.1_Missense_Mutation_p.P489T|ZNF438_ENST00000442986.1_Missense_Mutation_p.P489T|ZNF438_ENST00000538351.2_Missense_Mutation_p.P440T|ZNF438_ENST00000331737.6_Missense_Mutation_p.P479T|ZNF438_ENST00000375311.1_Missense_Mutation_p.P53T|ZNF438_ENST00000444692.2_Missense_Mutation_p.P479T|ZNF438_ENST00000436087.2_Missense_Mutation_p.P489T			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	489					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CTGGGCTTAGGGGAAGAGCTG	0.473																																						ENST00000452305.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1435-1437)Cct>Act		zinc finger protein 438							130.0	130.0	130.0					10																	31137869		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31137869G>T	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1465C>A	10.37:g.31137869G>T	ENSP00000354663:p.Pro489Thr					ZNF438_ENST00000375311.1_Missense_Mutation_p.P53T|ZNF438_ENST00000436087.2_Missense_Mutation_p.P489T|ZNF438_ENST00000331737.6_Missense_Mutation_p.P479T|ZNF438_ENST00000413025.1_Missense_Mutation_p.P489T|ZNF438_ENST00000361310.3_Missense_Mutation_p.P489T|ZNF438_ENST00000444692.2_Missense_Mutation_p.P479T|ZNF438_ENST00000442986.1_Missense_Mutation_p.P489T|ZNF438_ENST00000538351.2_Missense_Mutation_p.P440T	p.P479T	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN			8	1998	-		Prostate(175;0.0587)	489					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.1435C>A	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493818	0.26774	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896;ENST00000375311	T;T;T;T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63	5.59	-5.21	0.02815	.	0.544431	0.20047	N	0.100392	T	0.02230	0.0069	L	0.27053	0.805	0.21604	N	0.999628	B;B	0.23377	0.051;0.084	B;B	0.18561	0.01;0.022	T	0.41052	-0.9530	10	0.22706	T	0.39	-2.2012	2.5452	0.04736	0.139:0.3459:0.1443:0.3708	.	489;479	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	T	479;489;489;489;489;479;479;440;208;53	ENSP00000333571:P479T;ENSP00000354663:P489T;ENSP00000406934:P489T;ENSP00000412363:P489T;ENSP00000387546:P489T;ENSP00000413060:P479T;ENSP00000410898:P479T;ENSP00000445461:P440T;ENSP00000364460:P53T	ENSP00000333571:P479T	P	-	1	0	ZNF438	31177875	0.112000	0.22096	0.008000	0.14137	0.763000	0.43281	-0.040000	0.12104	-0.522000	0.06417	0.655000	0.94253	CCT		0.473	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		9	260	9	260	---	---	---	---
EPC1	80314	broad.mit.edu	37	10	32560609	32560609	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:32560609G>T	ENST00000263062.8	-	14	2580	c.2311C>A	c.(2311-2313)Cca>Aca	p.P771T	EPC1_ENST00000319778.6_Missense_Mutation_p.P748T|EPC1_ENST00000375110.2_Missense_Mutation_p.P698T|RP11-166N17.1_ENST00000415731.2_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	771					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GCATTTATTGGGGCAATAGAG	0.443																																						ENST00000319778.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24						c.(2242-2244)Cca>Aca		enhancer of polycomb homolog 1 (Drosophila)							222.0	204.0	210.0					10																	32560609		2203	4300	6503	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32560609G>T	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.2311C>A	10.37:g.32560609G>T	ENSP00000263062:p.Pro771Thr					EPC1_ENST00000375110.2_Missense_Mutation_p.P698T|EPC1_ENST00000263062.8_Missense_Mutation_p.P771T	p.P748T	NM_001272004.1|NM_001272019.2	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN			13	2544	-		Prostate(175;0.0199)	771					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.2242C>A	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560468	0.27827	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	5.24	4.26	0.50523	.	0.165048	0.51477	D	0.000097	T	0.22975	0.0555	N	0.14661	0.345	0.27351	N	0.956245	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.09930	-1.0652	9	0.14252	T	0.57	-8.4713	10.6732	0.45770	0.0:0.0:0.567:0.433	.	698;748;771	Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;EPC1_HUMAN	T	698;748;771	.	ENSP00000263062:P771T	P	-	1	0	EPC1	32600615	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.250000	0.58772	2.442000	0.82660	0.306000	0.20318	CCA		0.443	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			6	352	6	352	---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33469173	33469173	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:33469173C>A	ENST00000265371.4	-	18	3128	c.2603G>T	c.(2602-2604)gGg>gTg	p.G868V	NRP1_ENST00000395995.1_Missense_Mutation_p.G851V|NRP1_ENST00000374875.1_Missense_Mutation_p.G680V|NRP1_ENST00000374867.2_Missense_Mutation_p.G868V			O14786	NRP1_HUMAN	neuropilin 1	868					angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|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 peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CAGGAGGACCCCCAGGGCACT	0.522																																					Melanoma(104;886 1489 44640 45944 51153)	ENST00000265371.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48						c.(2602-2604)gGg>gTg		neuropilin 1	Palifermin(DB00039)|Pegaptanib(DB04895)						166.0	161.0	162.0					10																	33469173		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33469173C>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2603G>T	10.37:g.33469173C>A	ENSP00000265371:p.Gly868Val					NRP1_ENST00000374875.1_Missense_Mutation_p.G680V|NRP1_ENST00000374867.2_Missense_Mutation_p.G868V|NRP1_ENST00000395995.1_Missense_Mutation_p.G851V	p.G868V			O14786	NRP1_HUMAN			18	3128	-			868					B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.2603G>T	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121964	0.77436	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000413802;ENST00000395995	D;D;D;D	0.97850	-3.45;-4.57;-3.45;-3.9	5.84	5.84	0.93424	Neuropilin-1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97996	0.9340	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99414	1.0931	10	0.87932	D	0	-22.7087	20.1551	0.98106	0.0:1.0:0.0:0.0	.	862;868;868;680;851	A8K9V7;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;NRP1_HUMAN;.;.	V	868;680;868;50;851	ENSP00000265371:G868V;ENSP00000364009:G680V;ENSP00000364001:G868V;ENSP00000379317:G851V	ENSP00000265371:G868V	G	-	2	0	NRP1	33509179	1.000000	0.71417	0.967000	0.41034	0.716000	0.41182	7.487000	0.81328	2.760000	0.94817	0.655000	0.94253	GGG		0.522	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			6	257	6	257	---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43288532	43288532	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:43288532G>T	ENST00000374518.5	+	8	1092	c.1029G>T	c.(1027-1029)ggG>ggT	p.G343G		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	343					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						CTGGAGTTGGGGGTGTGCTGT	0.483																																						ENST00000374518.5																			0				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						c.(1027-1029)ggG>ggT		BMS1 ribosome biogenesis factor							131.0	123.0	126.0					10																	43288532		2203	4300	6503	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43288532G>T	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.1029G>T	10.37:g.43288532G>T							p.G343G	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			8	1092	+								Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.1029G>T	CCDS7199.1																																																																																				0.483	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		9	339	9	339	---	---	---	---
ZNF32	7580	broad.mit.edu	37	10	44140142	44140142	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:44140142G>T	ENST00000395797.1	-	3	366	c.178C>A	c.(178-180)Cca>Aca	p.P60T	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.P60T|ZNF32-AS2_ENST00000418966.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000485351.1_5'UTR	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	60					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)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCGAATCTGGGGATTTTTGT	0.463																																						ENST00000395797.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14						c.(178-180)Cca>Aca		zinc finger protein 32							113.0	117.0	115.0					10																	44140142		2203	4300	6503	SO:0001583	missense	7580				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr10:44140142G>T	U69645	CCDS7206.1	10q22-q25	2013-01-08	2006-05-11		ENSG00000169740	ENSG00000169740		"""Zinc fingers, C2H2-type"""	13095	protein-coding gene	gene with protein product		194539	"""zinc finger protein 32 (KOX 30)"""				Standard	XM_005271822		Approved	KOX30	uc001jbc.3	P17041	OTTHUMG00000018043	ENST00000395797.1:c.178C>A	10.37:g.44140142G>T	ENSP00000379143:p.Pro60Thr					ZNF32_ENST00000485351.1_5'UTR|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.P60T	p.P60T	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN		Lung(62;0.179)	3	366	-		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)	60					Q92951	Missense_Mutation	SNP	ENST00000395797.1	37	c.178C>A	CCDS7206.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820996	0.32237	.	.	ENSG00000169740	ENST00000374433;ENST00000395797	T;T	0.06849	3.25;3.25	4.64	3.73	0.42828	.	0.000000	0.43747	D	0.000523	T	0.04634	0.0126	N	0.08118	0	0.32144	N	0.585166	B	0.06786	0.001	B	0.04013	0.001	T	0.06588	-1.0818	10	0.46703	T	0.11	-2.266	10.3605	0.43991	0.0:0.0:0.8049:0.1951	.	60	P17041	ZNF32_HUMAN	T	60	ENSP00000363556:P60T;ENSP00000379143:P60T	ENSP00000363556:P60T	P	-	1	0	ZNF32	43460148	0.000000	0.05858	1.000000	0.80357	0.966000	0.64601	-0.047000	0.11963	1.533000	0.49186	0.655000	0.94253	CCA		0.463	ZNF32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047723.1	NM_006973		7	371	7	371	---	---	---	---
UBE2D1	7321	broad.mit.edu	37	10	60127731	60127731	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:60127731C>A	ENST00000373910.4	+	6	580	c.353C>A	c.(352-354)cCc>cAc	p.P118H		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	118					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						CCAGATGACCCCTTAGTACCA	0.313																																						ENST00000373910.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						c.(352-354)cCc>cAc		ubiquitin-conjugating enzyme E2D 1							205.0	182.0	190.0					10																	60127731		2203	4298	6501	SO:0001583	missense	7321				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr10:60127731C>A	BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"""Ubiquitin-conjugating enzymes E2"""	12474	protein-coding gene	gene with protein product		602961	"""stimulator of Fe transport"", ""ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"""	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.353C>A	10.37:g.60127731C>A	ENSP00000363019:p.Pro118His						p.P118H	NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN			6	580	+			118					A6NLF6|A8K786	Missense_Mutation	SNP	ENST00000373910.4	37	c.353C>A	CCDS7252.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769528	0.90020	.	.	ENSG00000072401	ENST00000373910	T	0.77358	-1.09	5.72	5.72	0.89469	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.93549	0.7941	H	0.99325	4.515	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95934	0.8941	10	0.87932	D	0	.	17.3667	0.87366	0.0:1.0:0.0:0.0	.	118	P51668	UB2D1_HUMAN	H	118	ENSP00000363019:P118H	ENSP00000363019:P118H	P	+	2	0	UBE2D1	59797737	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.676000	0.84012	2.699000	0.92147	0.561000	0.74099	CCC		0.313	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048143.2	NM_003338		6	274	6	274	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61831142	61831142	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:61831142G>T	ENST00000280772.2	-	37	9688	c.9497C>A	c.(9496-9498)cCt>cAt	p.P3166H	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3166					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGGGTTAAAGGGCTTTTCCC	0.448																																						ENST00000280772.2																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9496-9498)cCt>cAt		ankyrin 3, node of Ranvier (ankyrin G)							86.0	92.0	90.0					10																	61831142		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831142G>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9497C>A	10.37:g.61831142G>T	ENSP00000280772:p.Pro3166His					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	p.P3166H	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9688	-								B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.9497C>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771664	0.69992	.	.	ENSG00000151150	ENST00000280772	D	0.94232	-3.38	5.48	5.48	0.80851	.	0.000000	0.41823	D	0.000805	D	0.96253	0.8778	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96423	0.9313	10	0.72032	D	0.01	.	19.359	0.94428	0.0:0.0:1.0:0.0	.	3166	Q12955	ANK3_HUMAN	H	3166	ENSP00000280772:P3166H	ENSP00000280772:P3166H	P	-	2	0	ANK3	61501148	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.584000	0.87258	0.561000	0.74099	CCT		0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		5	174	5	174	---	---	---	---
ARID5B	84159	broad.mit.edu	37	10	63845636	63845636	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:63845636C>A	ENST00000279873.7	+	9	1785	c.1375C>A	c.(1375-1377)Cca>Aca	p.P459T	ARID5B_ENST00000309334.5_Missense_Mutation_p.P216T	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	459					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGAAAATGCCCCAAAGCCCCA	0.448																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(1375-1377)Cca>Aca		AT rich interactive domain 5B (MRF1-like)							110.0	118.0	115.0					10																	63845636		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63845636C>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1375C>A	10.37:g.63845636C>A	ENSP00000279873:p.Pro459Thr					ARID5B_ENST00000309334.5_Missense_Mutation_p.P216T	p.P459T	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			9	1785	+	Prostate(12;0.016)|all_hematologic(501;0.215)		459					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.1375C>A	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590194	0.46214	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.12984	2.63;2.63	5.77	4.82	0.62117	.	0.221825	0.38326	N	0.001726	T	0.11110	0.0271	N	0.24115	0.695	0.30612	N	0.7594	B;B	0.14012	0.002;0.009	B;B	0.12156	0.007;0.003	T	0.03555	-1.1025	10	0.39692	T	0.17	-12.479	15.8467	0.78899	0.0:0.8656:0.1344:0.0	.	216;459	Q14865-2;Q14865	.;ARI5B_HUMAN	T	459;216	ENSP00000279873:P459T;ENSP00000308862:P216T	ENSP00000279873:P459T	P	+	1	0	ARID5B	63515642	0.880000	0.30214	0.997000	0.53966	0.986000	0.74619	2.187000	0.42602	2.884000	0.98904	0.655000	0.94253	CCA		0.448	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		7	231	7	231	---	---	---	---
H2AFY2	55506	broad.mit.edu	37	10	71868954	71868954	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:71868954C>A	ENST00000373255.4	+	8	1208	c.944C>A	c.(943-945)cCc>cAc	p.P315H	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	315	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CCGCCTTTCCCCAGCGGCAGG	0.542																																						ENST00000373255.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						c.(943-945)cCc>cAc		H2A histone family, member Y2							57.0	56.0	56.0					10																	71868954		2203	4300	6503	SO:0001583	missense	55506				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr10:71868954C>A	AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.944C>A	10.37:g.71868954C>A	ENSP00000362352:p.Pro315His					AIFM2_ENST00000373248.1_Intron	p.P315H	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN			8	1208	+			315			Macro.		Q5SQT2	Missense_Mutation	SNP	ENST00000373255.4	37	c.944C>A	CCDS7296.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042416	0.75732	.	.	ENSG00000099284	ENST00000373255	T	0.21734	1.99	5.93	5.03	0.67393	Appr-1-p processing (2);	0.156761	0.56097	D	0.000023	T	0.34745	0.0908	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	P	0.61658	0.892	T	0.10132	-1.0643	10	0.87932	D	0	.	14.6351	0.68682	0.0:0.9299:0.0:0.0701	.	315	Q9P0M6	H2AW_HUMAN	H	315	ENSP00000362352:P315H	ENSP00000362352:P315H	P	+	2	0	H2AFY2	71538960	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.928000	0.56506	1.509000	0.48786	0.655000	0.94253	CCC		0.542	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048480.2	NM_018649		5	80	5	80	---	---	---	---
PSAP	5660	broad.mit.edu	37	10	73578465	73578465	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:73578465G>T	ENST00000394936.3	-	13	1595	c.1448C>A	c.(1447-1449)cCc>cAc	p.P483H	PSAP_ENST00000394934.1_Missense_Mutation_p.P485H			P07602	SAP_HUMAN	prosaposin	483	Saposin B-type 4. {ECO:0000255|PROSITE- ProRule:PRU00415}.				blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						ATGGGCCGAGGGGCAGGCTCC	0.493																																						ENST00000394936.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(1447-1449)cCc>cAc		prosaposin							94.0	103.0	100.0					10																	73578465		2203	4300	6503	SO:0001583	missense	5660				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding	g.chr10:73578465G>T	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.1448C>A	10.37:g.73578465G>T	ENSP00000378394:p.Pro483His					PSAP_ENST00000394934.1_Missense_Mutation_p.P485H	p.P483H			P07602	SAP_HUMAN			13	1595	-			483			Saposin B-type 4.		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.1448C>A	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	G	6.891	0.533893	0.13188	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000394929;ENST00000404083;ENST00000394940	D;D	0.90504	-2.68;-2.68	5.35	2.37	0.29283	Saposin-like (2);Saposin B (1);	0.162990	0.56097	D	0.000036	D	0.83027	0.5165	N	0.25485	0.75	0.41573	D	0.988696	B	0.14012	0.009	B	0.15484	0.013	T	0.74368	-0.3688	10	0.49607	T	0.09	-16.3072	10.2211	0.43198	0.0:0.2432:0.5056:0.2512	.	483	P07602	SAP_HUMAN	H	483;483;486;485;199;489;409	ENSP00000378394:P483H;ENSP00000378392:P485H	ENSP00000350063:P486H	P	-	2	0	PSAP	73248471	0.969000	0.33509	0.265000	0.24526	0.409000	0.31022	1.610000	0.36869	0.206000	0.20587	0.561000	0.74099	CCC		0.493	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778		6	296	6	296	---	---	---	---
P4HA1	5033	broad.mit.edu	37	10	74810827	74810827	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:74810827C>A	ENST00000307116.2	-	7	1000	c.884G>T	c.(883-885)gGg>gTg	p.G295V	P4HA1_ENST00000394890.2_Missense_Mutation_p.G295V|P4HA1_ENST00000440381.1_Missense_Mutation_p.G295V|P4HA1_ENST00000263556.3_Missense_Mutation_p.G295V|P4HA1_ENST00000373008.2_Missense_Mutation_p.G295V|P4HA1_ENST00000412021.2_Missense_Mutation_p.G295V			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	295					collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GATACCCTCCCCACGGCACAG	0.418																																					Colon(147;367 2405 2662 52127)	ENST00000412021.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15						c.(883-885)gGg>gTg		prolyl 4-hydroxylase, alpha polypeptide I	Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						279.0	261.0	267.0					10																	74810827		2203	4300	6503	SO:0001583	missense	5033					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity	g.chr10:74810827C>A		CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.884G>T	10.37:g.74810827C>A	ENSP00000307318:p.Gly295Val					P4HA1_ENST00000394890.2_Missense_Mutation_p.G295V|P4HA1_ENST00000263556.3_Missense_Mutation_p.G295V|P4HA1_ENST00000440381.1_Missense_Mutation_p.G295V|P4HA1_ENST00000373008.2_Missense_Mutation_p.G295V|P4HA1_ENST00000307116.2_Missense_Mutation_p.G295V	p.G295V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN			8	1217	-	Prostate(51;0.0198)		295					C9JL12|Q15082|Q15083|Q5VSQ5	Missense_Mutation	SNP	ENST00000307116.2	37	c.884G>T		.	.	.	.	.	.	.	.	.	.	C	25.4	4.633461	0.87660	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.53857	0.65;0.64;0.65;0.65;0.64;0.6	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.78136	0.4236	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.83275	0.985;0.996;0.996	T	0.81331	-0.0981	10	0.87932	D	0	-6.2948	19.7619	0.96323	0.0:1.0:0.0:0.0	.	295;295;295	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	V	295	ENSP00000307318:G295V;ENSP00000362099:G295V;ENSP00000411688:G295V;ENSP00000378353:G295V;ENSP00000263556:G295V;ENSP00000414464:G295V	ENSP00000263556:G295V	G	-	2	0	P4HA1	74480833	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.464000	0.80887	2.671000	0.90904	0.557000	0.71058	GGG		0.418	P4HA1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000048601.1	NM_000917		11	582	11	582	---	---	---	---
POLR3A	11128	broad.mit.edu	37	10	79785871	79785871	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:79785871C>A	ENST00000372371.3	-	2	298	c.161G>T	c.(160-162)gGg>gTg	p.G54V		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	54					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTCGAGCACCCCATATAGCAA	0.537																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(160-162)gGg>gTg		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							110.0	101.0	104.0					10																	79785871		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79785871C>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.161G>T	10.37:g.79785871C>A	ENSP00000361446:p.Gly54Val						p.G54V	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		2	298	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		54					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.161G>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460529	0.84317	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.46819	0.86	5.23	5.23	0.72850	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.80423	0.4620	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87480	0.2420	9	.	.	.	-23.7997	18.7977	0.92001	0.0:1.0:0.0:0.0	.	54	O14802	RPC1_HUMAN	V	54	ENSP00000361446:G54V	.	G	-	2	0	POLR3A	79455877	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	7.442000	0.80503	2.434000	0.82447	0.555000	0.69702	GGG		0.537	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		5	150	5	150	---	---	---	---
GRID1	2894	broad.mit.edu	37	10	87487628	87487628	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:87487628C>A	ENST00000327946.7	-	10	1602	c.1517G>T	c.(1516-1518)gGg>gTg	p.G506V	GRID1_ENST00000536331.1_Missense_Mutation_p.G77V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	506					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GATGAGCTCCCCGATCATCCC	0.542										Multiple Myeloma(13;0.14)																												ENST00000327946.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						c.(1516-1518)gGg>gTg		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						101.0	93.0	96.0					10																	87487628		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87487628C>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1517G>T	10.37:g.87487628C>A	ENSP00000330148:p.Gly506Val	Multiple Myeloma(13;0.14)				GRID1_ENST00000536331.1_Missense_Mutation_p.G77V	p.G506V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN			10	1602	-			506					B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1517G>T	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758973	0.89843	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.27256	1.68;1.68	5.73	5.73	0.89815	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	M	0.78223	2.4	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.56511	-0.7967	10	0.72032	D	0.01	.	18.9377	0.92592	0.0:1.0:0.0:0.0	.	506	Q9ULK0	GRID1_HUMAN	V	506;77	ENSP00000330148:G506V;ENSP00000444455:G77V	ENSP00000330148:G506V	G	-	2	0	GRID1	87477608	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.719000	0.93026	0.644000	0.83932	GGG		0.542	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		5	181	5	181	---	---	---	---
IFIT1	3434	broad.mit.edu	37	10	91162647	91162647	+	Silent	SNP	C	C	A	rs202196296		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:91162647C>A	ENST00000371804.3	+	2	782	c.615C>A	c.(613-615)ccC>ccA	p.P205P	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Silent_p.P174P	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	205					cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)	p.P205P(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CTTTGCTTCCCCTAAGGCAGG	0.463																																						ENST00000546318.1																			1	Substitution - coding silent(1)	p.P205P(1)	kidney(1)	breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(520-522)ccC>ccA		interferon-induced protein with tetratricopeptide repeats 1							224.0	230.0	228.0					10																	91162647		2203	4300	6503	SO:0001819	synonymous_variant	3434				cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	g.chr10:91162647C>A	M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.615C>A	10.37:g.91162647C>A						IFIT1_ENST00000371804.3_Silent_p.P205P|LIPA_ENST00000371837.1_Intron	p.P174P	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN			2	1809	+			205					B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	37	c.522C>A	CCDS31243.1																																																																																				0.463	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1	NM_001548		10	693	10	693	---	---	---	---
CPEB3	22849	broad.mit.edu	37	10	93851634	93851634	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:93851634G>T	ENST00000265997.4	-	8	1812	c.1640C>A	c.(1639-1641)cCc>cAc	p.P547H	CPEB3_ENST00000412050.4_Missense_Mutation_p.P533H	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	547					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AGTTTTTCTGGGGTCCAAAGG	0.433																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1597-1599)cCc>cAc		cytoplasmic polyadenylation element binding protein 3							117.0	106.0	110.0					10																	93851634		2203	4300	6503	SO:0001583	missense	22849						nucleotide binding|RNA binding	g.chr10:93851634G>T	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1640C>A	10.37:g.93851634G>T	ENSP00000265997:p.Pro547His					CPEB3_ENST00000265997.4_Missense_Mutation_p.P547H	p.P533H	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			8	1686	-		Colorectal(252;0.0869)	547					Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	c.1598C>A	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.748562	0.89753	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.23348	1.91;1.91	5.66	5.66	0.87406	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	0.994;1.0;1.0	D;D;D	0.91635	0.959;0.997;0.999	T	0.38950	-0.9637	10	0.54805	T	0.06	-8.839	19.7617	0.96321	0.0:0.0:1.0:0.0	.	547;533;533	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	H	533;533;547	ENSP00000398310:P533H;ENSP00000265997:P547H	ENSP00000265997:P547H	P	-	2	0	CPEB3	93841614	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.790000	0.99075	2.671000	0.90904	0.655000	0.94253	CCC		0.433	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		5	137	5	137	---	---	---	---
ALDH18A1	5832	broad.mit.edu	37	10	97366611	97366611	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:97366611C>A	ENST00000371224.2	-	18	2433	c.2296G>T	c.(2296-2298)Ggg>Tgg	p.G766W	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G764W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	766	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		TGGTCCTTCCCTCGCAGCAGC	0.488																																						ENST00000371224.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2296-2298)Ggg>Tgg		aldehyde dehydrogenase 18 family, member A1	L-Glutamic Acid(DB00142)						160.0	162.0	161.0					10																	97366611		2203	4300	6503	SO:0001583	missense	5832				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	g.chr10:97366611C>A	X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.2296G>T	10.37:g.97366611C>A	ENSP00000360268:p.Gly766Trp					ALDH18A1_ENST00000371221.3_Missense_Mutation_p.G764W	p.G766W	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	18	2433	-		Colorectal(252;0.0402)	766			Gamma-glutamyl phosphate reductase.		B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	c.2296G>T	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622708	0.87460	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.75050	-0.9;-0.9	5.28	5.28	0.74379	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	H	0.97158	3.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93783	0.7085	10	0.87932	D	0	-15.3187	16.3898	0.83531	0.0:1.0:0.0:0.0	.	766;764	P54886;P54886-2	P5CS_HUMAN;.	W	766;764	ENSP00000360268:G766W;ENSP00000360265:G764W	ENSP00000360265:G764W	G	-	1	0	ALDH18A1	97356601	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.376000	0.79658	2.479000	0.83701	0.561000	0.74099	GGG		0.488	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1	NM_002860		7	400	7	400	---	---	---	---
SLIT1	6585	broad.mit.edu	37	10	98824595	98824595	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:98824595C>A	ENST00000266058.4	-	6	769	c.524G>T	c.(523-525)gGg>gTg	p.G175V	SLIT1_ENST00000371041.3_Missense_Mutation_p.G175V|SLIT1_ENST00000371070.4_Missense_Mutation_p.G175V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	175					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACGGAAGGCCCCTTCCTCAAT	0.562																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(523-525)gGg>gTg		slit homolog 1 (Drosophila)							184.0	163.0	170.0					10																	98824595		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98824595C>A	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.524G>T	10.37:g.98824595C>A	ENSP00000266058:p.Gly175Val					SLIT1_ENST00000371041.3_Missense_Mutation_p.G175V|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.G175V	p.G175V	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	6	769	-		Colorectal(252;0.162)	175					Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.524G>T	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604960	0.87157	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.79112	0.4391	M	0.84585	2.705	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.951;1.0	T	0.83214	-0.0072	10	0.87932	D	0	.	17.8864	0.88856	0.0:1.0:0.0:0.0	.	175;175	E7EWQ8;O75093	.;SLIT1_HUMAN	V	175;175;151;175;158;151;175	ENSP00000266058:G175V;ENSP00000360109:G175V;ENSP00000315005:G158V;ENSP00000360080:G175V	ENSP00000266058:G175V	G	-	2	0	SLIT1	98814585	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.609000	0.82925	2.537000	0.85549	0.491000	0.48974	GGG		0.562	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		6	310	6	310	---	---	---	---
RRP12	23223	broad.mit.edu	37	10	99139075	99139075	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:99139075G>T	ENST00000370992.4	-	15	1884	c.1773C>A	c.(1771-1773)ccC>ccA	p.P591P	RRP12_ENST00000414986.1_Silent_p.P530P|RRP12_ENST00000315563.6_Silent_p.P491P|RRP12_ENST00000536831.1_Silent_p.P309P	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	591						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGTTAGCCAGGGGCAAGAAGT	0.562																																						ENST00000370992.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(1771-1773)ccC>ccA		ribosomal RNA processing 12 homolog (S. cerevisiae)							194.0	190.0	191.0					10																	99139075		2203	4300	6503	SO:0001819	synonymous_variant	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99139075G>T		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1773C>A	10.37:g.99139075G>T						RRP12_ENST00000536831.1_Silent_p.P309P|RRP12_ENST00000315563.6_Silent_p.P491P|RRP12_ENST00000414986.1_Silent_p.P530P	p.P591P	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	15	1884	-		Colorectal(252;0.162)	591					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	ENST00000370992.4	37	c.1773C>A	CCDS7457.1																																																																																				0.562	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179		10	445	10	445	---	---	---	---
EXOSC1	51013	broad.mit.edu	37	10	99203015	99203015	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:99203015C>A	ENST00000370902.3	-	3	232	c.201G>T	c.(199-201)gtG>gtT	p.V67V	ZDHHC16_ENST00000393760.1_5'Flank|EXOSC1_ENST00000370885.4_Intron|ZDHHC16_ENST00000353979.3_5'Flank|EXOSC1_ENST00000370886.5_Silent_p.V67V|ZDHHC16_ENST00000352634.4_5'Flank|EXOSC1_ENST00000485122.2_Silent_p.V67V|EXOSC1_ENST00000471049.1_5'UTR|ZDHHC16_ENST00000345745.5_5'Flank|ZDHHC16_ENST00000370854.3_5'Flank|ZDHHC16_ENST00000370842.2_5'Flank|ZDHHC16_ENST00000370846.4_5'Flank	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	67	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.V67V(1)		breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CAATAGCTCCCACATCTGGCA	0.458																																						ENST00000370902.3																			1	Substitution - coding silent(1)	p.V67V(1)	lung(1)	breast(1)|endometrium(1)|lung(5)	7						c.(199-201)gtG>gtT		exosome component 1							289.0	264.0	272.0					10																	99203015		2203	4300	6503	SO:0001819	synonymous_variant	51013				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding	g.chr10:99203015C>A	AF151866	CCDS7459.1	10q24	2004-03-26			ENSG00000171311	ENSG00000171311			17286	protein-coding gene	gene with protein product	"""CSL4 exosomal core protein homolog (yeast)"""	606493				11812149, 11719186	Standard	XR_246092		Approved	hCsl4p, Csl4p, CSL4, Ski4p, SKI4, CGI-108, p13	uc001kni.3	Q9Y3B2	OTTHUMG00000018854	ENST00000370902.3:c.201G>T	10.37:g.99203015C>A						EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000485122.2_Silent_p.V67V|EXOSC1_ENST00000471049.1_5'UTR|EXOSC1_ENST00000370886.5_Silent_p.V67V	p.V67V	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)	3	232	-		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)	67			S1 motif.		B2R9B3|Q5JTH3	Silent	SNP	ENST00000370902.3	37	c.201G>T	CCDS7459.1																																																																																				0.458	EXOSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049680.1			7	442	7	442	---	---	---	---
DNMBP	23268	broad.mit.edu	37	10	101715791	101715791	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:101715791C>A	ENST00000324109.4	-	4	1531	c.1440G>T	c.(1438-1440)agG>agT	p.R480S	DNMBP_ENST00000342239.3_Missense_Mutation_p.R480S|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	480					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CAGAAGAGCCCCTGTAAAGAG	0.473																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(1438-1440)agG>agT		dynamin binding protein							107.0	117.0	114.0					10																	101715791		2203	4300	6503	SO:0001583	missense	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101715791C>A	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1440G>T	10.37:g.101715791C>A	ENSP00000315659:p.Arg480Ser					DNMBP_ENST00000324109.4_Missense_Mutation_p.R480S|DNMBP-AS1_ENST00000434409.1_RNA	p.R480S			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	4	1531	-		Colorectal(252;0.234)	480					Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	ENST00000324109.4	37	c.1440G>T	CCDS7485.1	.	.	.	.	.	.	.	.	.	.	C	8.399	0.841506	0.16963	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.11385	2.83;2.78	5.92	-2.13	0.07144	.	0.672005	0.13958	N	0.351069	T	0.02533	0.0077	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38090	-0.9677	10	0.05959	T	0.93	-0.2756	0.3845	0.00400	0.3204:0.2761:0.156:0.2474	.	480	Q6XZF7	DNMBP_HUMAN	S	480	ENSP00000344914:R480S;ENSP00000315659:R480S	ENSP00000315659:R480S	R	-	3	2	DNMBP	101705781	0.000000	0.05858	0.000000	0.03702	0.608000	0.37181	-0.516000	0.06282	-0.739000	0.04809	0.561000	0.74099	AGG		0.473	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		6	300	6	300	---	---	---	---
SCD	6319	broad.mit.edu	37	10	102107910	102107910	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:102107910C>A	ENST00000370355.2	+	2	498	c.117C>A	c.(115-117)ccC>ccA	p.P39P	RP11-34D15.2_ENST00000429420.1_RNA	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	39					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		AGACGATGCCCCTCTACTTGG	0.507																																					Colon(67;260 1459 9574 11663)	ENST00000370355.2																			0				endometrium(1)|large_intestine(3)|lung(5)	9						c.(115-117)ccC>ccA		stearoyl-CoA desaturase (delta-9-desaturase)							169.0	165.0	166.0					10																	102107910		2203	4300	6503	SO:0001819	synonymous_variant	6319				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity	g.chr10:102107910C>A	AF097514	CCDS7493.1	10q23-q24	2013-01-25			ENSG00000099194	ENSG00000099194	1.14.19.1	"""Fatty acid desaturases"""	10571	protein-coding gene	gene with protein product	"""acyl-CoA desaturase"", ""fatty acid desaturase"", ""delta-9-desaturase"""	604031	"""stearoyl-CoA desaturase opposite strand"""	SCDOS		7909540, 10229681	Standard	NM_005063		Approved	FADS5	uc001kqy.3	O00767	OTTHUMG00000018906	ENST00000370355.2:c.117C>A	10.37:g.102107910C>A							p.P39P	NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)	2	498	+		Colorectal(252;0.0323)	39					B2R5U0|D3DR68|Q16150|Q53GR9|Q5W037|Q5W038|Q6GSS4|Q96KF6|Q9BS07|Q9Y695	Silent	SNP	ENST00000370355.2	37	c.117C>A	CCDS7493.1																																																																																				0.507	SCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049857.2	NM_005063		7	261	7	261	---	---	---	---
FAM178A	55719	broad.mit.edu	37	10	102698452	102698452	+	Silent	SNP	C	C	A	rs199974864		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:102698452C>A	ENST00000238961.4	+	11	3155	c.2613C>A	c.(2611-2613)ccC>ccA	p.P871P	FAM178A_ENST00000370269.3_Silent_p.P871P	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	871						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											CTTTGTTTCCCCTGGAGAATC	0.363																																						ENST00000238961.4																			0											c.(2611-2613)ccC>ccA		family with sequence similarity 178, member A							187.0	182.0	183.0					10																	102698452		2203	4300	6503	SO:0001819	synonymous_variant	55719							g.chr10:102698452C>A	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2613C>A	10.37:g.102698452C>A						FAM178A_ENST00000370269.3_Silent_p.P871P	p.P871P	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN			11	3155	+								A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Silent	SNP	ENST00000238961.4	37	c.2613C>A	CCDS7500.1																																																																																				0.363	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			6	352	6	352	---	---	---	---
HPS6	79803	broad.mit.edu	37	10	103826089	103826089	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:103826089G>T	ENST00000299238.5	+	1	943	c.858G>T	c.(856-858)ggG>ggT	p.G286G		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	286					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TTGACTTCGGGGGCACTGTGA	0.672									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(856-858)ggG>ggT		Hermansky-Pudlak syndrome 6							39.0	45.0	43.0					10																	103826089		2203	4300	6503	SO:0001819	synonymous_variant	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826089G>T	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.858G>T	10.37:g.103826089G>T							p.G286G	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	943	+		Colorectal(252;0.122)	286					Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	c.858G>T	CCDS7527.1																																																																																				0.672	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		4	76	4	76	---	---	---	---
HPS6	79803	broad.mit.edu	37	10	103826902	103826902	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:103826902C>A	ENST00000299238.5	+	1	1756	c.1671C>A	c.(1669-1671)ccC>ccA	p.P557P		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	557					blood coagulation (GO:0007596)|melanocyte differentiation (GO:0030318)|organelle organization (GO:0006996)|protein localization to membrane (GO:0072657)	BLOC-2 complex (GO:0031084)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|Rab GTPase binding (GO:0017137)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GAAAGGAACCCCCCAATGGAA	0.587									Hermansky-Pudlak syndrome																													ENST00000299238.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11						c.(1669-1671)ccC>ccA		Hermansky-Pudlak syndrome 6							63.0	62.0	62.0					10																	103826902		2203	4300	6503	SO:0001819	synonymous_variant	79803	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol|early endosome membrane|endoplasmic reticulum|microsome		g.chr10:103826902C>A	BC009258	CCDS7527.1	10q24.32	2014-06-18			ENSG00000166189	ENSG00000166189			18817	protein-coding gene	gene with protein product		607522				12548288	Standard	NM_024747		Approved	FLJ22501	uc001kuj.3	Q86YV9	OTTHUMG00000018945	ENST00000299238.5:c.1671C>A	10.37:g.103826902C>A							p.P557P	NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)	1	1756	+		Colorectal(252;0.122)	557					Q5VV69|Q9H685	Silent	SNP	ENST00000299238.5	37	c.1671C>A	CCDS7527.1																																																																																				0.587	HPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050018.2	NM_024747		5	118	5	118	---	---	---	---
SUFU	51684	broad.mit.edu	37	10	104264005	104264005	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:104264005G>T	ENST00000369902.3	+	1	262	c.96G>T	c.(94-96)ccG>ccT	p.P32P	ACTR1A_ENST00000545684.1_5'Flank|SUFU_ENST00000423559.2_Silent_p.P32P|ACTR1A_ENST00000487599.1_5'Flank|ACTR1A_ENST00000446605.2_5'Flank|SUFU_ENST00000369899.2_Silent_p.P32P|ACTR1A_ENST00000369905.4_5'Flank	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	32					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCTTTCCCCCGGGACTGCACG	0.721			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																													ENST00000369902.3			yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	"""D, F, S"""	suppressor of fused homolog (Drosophila)			O		medulloblastoma	medulloblastoma		0				breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24						c.(94-96)ccG>ccT		suppressor of fused homolog (Drosophila)							23.0	24.0	23.0					10																	104264005		2202	4296	6498	SO:0001819	synonymous_variant	51684	Medulloblastoma, associated with Germline SUFU Mutation	Familial Cancer Database		negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	g.chr10:104264005G>T	AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.96G>T	10.37:g.104264005G>T						SUFU_ENST00000423559.2_Silent_p.P32P|SUFU_ENST00000369899.2_Silent_p.P32P	p.P32P	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)	1	262	+		Colorectal(252;0.207)	32					Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	ENST00000369902.3	37	c.96G>T	CCDS7537.1																																																																																				0.721	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050089.1	NM_016169		3	40	3	40	---	---	---	---
SH3PXD2A	9644	broad.mit.edu	37	10	105363021	105363021	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:105363021G>T	ENST00000369774.4	-	15	2230	c.1954C>A	c.(1954-1956)Ctg>Atg	p.L652M	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L487M|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L624M|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L519M|SH3PXD2A_ENST00000427662.2_Intron			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	652	Ser-rich.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCCTGGTCAGGGACAGCGAG	0.572																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1954-1956)Ctg>Atg		SH3 and PX domains 2A							115.0	137.0	129.0					10																	105363021		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363021G>T	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1954C>A	10.37:g.105363021G>T	ENSP00000358789:p.Leu652Met					SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.L487M|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.L624M|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.L519M	p.L652M			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2230	-		Colorectal(252;0.0815)|Breast(234;0.131)	652			Ser-rich.		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1954C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.548|8.548	0.874932|0.874932	0.17395|0.17395	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T|.	0.58797|.	0.39;0.38;0.53;0.31|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.244341|.	0.41605|.	D|.	0.000843|.	T|T	0.62575|0.62575	0.2439|0.2439	L|L	0.53249|0.53249	1.67|1.67	0.38003|0.38003	D|D	0.934297|0.934297	D;D;D;D|.	0.89917|.	0.999;0.999;0.999;1.0|.	D;D;D;D|.	0.87578|.	0.996;0.996;0.996;0.998|.	T|T	0.64558|0.64558	-0.6379|-0.6379	10|5	0.33940|.	T|.	0.23|.	-14.3776|-14.3776	12.1679|12.1679	0.54141|0.54141	0.1231:0.0:0.8769:0.0|0.1231:0.0:0.8769:0.0	.|.	652;501;497;624|.	Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.|.	M|H	652;624;459;567;519;487|578	ENSP00000358789:L652M;ENSP00000348215:L624M;ENSP00000443663:L519M;ENSP00000441514:L487M|.	ENSP00000318135:L459M|.	L|P	-|-	1|2	2|0	SH3PXD2A|SH3PXD2A	105353011|105353011	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.258000|0.258000	0.26162|0.26162	1.869000|1.869000	0.39519|0.39519	2.543000|2.543000	0.85770|0.85770	0.561000|0.561000	0.74099|0.74099	CTG|CCT		0.572	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		6	313	6	313	---	---	---	---
SORCS3	22986	broad.mit.edu	37	10	106737151	106737151	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:106737151G>T	ENST00000369701.3	+	4	1081	c.854G>T	c.(853-855)gGg>gTg	p.G285V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	285					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAGACGAAGGGGCGACCTAT	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(853-855)gGg>gTg		sortilin-related VPS10 domain containing receptor 3							132.0	113.0	119.0					10																	106737151		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106737151G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.854G>T	10.37:g.106737151G>T	ENSP00000358715:p.Gly285Val						p.G285V	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	4	1081	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	285					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.854G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842725	0.71488	.	.	ENSG00000156395	ENST00000369701	T	0.80994	-1.44	5.6	5.6	0.85130	VPS10 (1);	0.000000	0.85682	D	0.000000	D	0.90913	0.7144	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91544	0.5252	10	0.72032	D	0.01	.	19.6179	0.95643	0.0:0.0:1.0:0.0	.	285	Q9UPU3	SORC3_HUMAN	V	285	ENSP00000358715:G285V	ENSP00000358715:G285V	G	+	2	0	SORCS3	106727141	1.000000	0.71417	0.998000	0.56505	0.313000	0.28021	9.869000	0.99810	2.653000	0.90120	0.563000	0.77884	GGG		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		5	164	5	164	---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111633142	111633142	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:111633142G>T	ENST00000502935.1	-	16	1554	c.1435C>A	c.(1435-1437)Cct>Act	p.P479T	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.P455T|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.P365T|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.P436T					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TAGGCTGTAGGGGTCCCAAAA	0.413																																						ENST00000502935.1																			0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1435-1437)Cct>Act		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							170.0	155.0	160.0					10																	111633142		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111633142G>T		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1435C>A	10.37:g.111633142G>T	ENSP00000421566:p.Pro479Thr					XPNPEP1_ENST00000369683.1_Missense_Mutation_p.P365T|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.P436T|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.P455T	p.P479T			Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	16	1554	-		Breast(234;0.174)	436						Missense_Mutation	SNP	ENST00000502935.1	37	c.1435C>A	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794836	0.90453	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27	5.82	5.82	0.92795	Peptidase M24, structural domain (3);	0.048989	0.85682	D	0.000000	D	0.91469	0.7307	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.92187	0.5756	10	0.46703	T	0.11	-12.7537	18.2796	0.90094	0.0:0.0:1.0:0.0	.	479;436	G5E9Y2;Q9NQW7	.;XPP1_HUMAN	T	479;365;455;436	ENSP00000421566:P479T;ENSP00000358697:P365T;ENSP00000324011:P455T;ENSP00000358694:P436T	ENSP00000324011:P455T	P	-	1	0	XPNPEP1	111623132	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	9.496000	0.97967	2.752000	0.94435	0.655000	0.94253	CCT		0.413	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			7	252	7	252	---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115413823	115413823	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:115413823G>T	ENST00000359988.3	-	5	666	c.422C>A	c.(421-423)cCc>cAc	p.P141H	NRAP_ENST00000369360.3_Missense_Mutation_p.P141H|NRAP_ENST00000369358.4_Missense_Mutation_p.P141H|NRAP_ENST00000360478.3_Missense_Mutation_p.P141H	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TACAATTTCGGGGTCTGGCAG	0.463																																						ENST00000369358.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(421-423)cCc>cAc		nebulin-related anchoring protein							220.0	225.0	223.0					10																	115413823		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115413823G>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.422C>A	10.37:g.115413823G>T	ENSP00000353078:p.Pro141His					NRAP_ENST00000360478.3_Missense_Mutation_p.P141H|NRAP_ENST00000359988.3_Missense_Mutation_p.P141H|NRAP_ENST00000369360.3_Missense_Mutation_p.P141H	p.P141H			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	5	666	-		Colorectal(252;0.0233)|Breast(234;0.188)	141						Missense_Mutation	SNP	ENST00000359988.3	37	c.422C>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675459	0.67928	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.21734	2.22;2.21;2.18;1.99	5.96	5.96	0.96718	.	0.057926	0.64402	D	0.000001	T	0.41488	0.1161	L	0.50333	1.59	0.43084	D	0.994749	P;P;P	0.52170	0.919;0.951;0.919	P;D;P	0.63877	0.832;0.919;0.832	T	0.07616	-1.0763	10	0.87932	D	0	.	17.5779	0.87956	0.0:0.0:1.0:0.0	.	141;141;141	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	H	141	ENSP00000358365:P141H;ENSP00000358367:P141H;ENSP00000353078:P141H;ENSP00000353666:P141H	ENSP00000353078:P141H	P	-	2	0	NRAP	115403813	1.000000	0.71417	0.988000	0.46212	0.527000	0.34593	5.737000	0.68606	2.832000	0.97577	0.655000	0.94253	CCC		0.463	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		7	454	7	454	---	---	---	---
PLEKHS1	79949	broad.mit.edu	37	10	115540429	115540429	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:115540429C>A	ENST00000354462.3	+	6	644	c.486C>A	c.(484-486)ccC>ccA	p.P162P	PLEKHS1_ENST00000369312.4_Silent_p.P330P|PLEKHS1_ENST00000369309.1_Silent_p.P246P|PLEKHS1_ENST00000361048.1_3'UTR			Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	426																	GTATGTGTCCCTCAAAATGCC	0.453																																						ENST00000354462.3																			0											c.(484-486)ccC>ccA		pleckstrin homology domain containing, family S member 1							79.0	66.0	70.0					10																	115540429		692	1591	2283	SO:0001819	synonymous_variant	79949							g.chr10:115540429C>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000354462.3:c.486C>A	10.37:g.115540429C>A						PLEKHS1_ENST00000361048.1_3'UTR|PLEKHS1_ENST00000369312.4_Silent_p.P330P|PLEKHS1_ENST00000369309.1_Silent_p.P246P	p.P162P							6	644	+								A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Silent	SNP	ENST00000354462.3	37	c.486C>A																																																																																					0.453	PLEKHS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050431.2	NM_024889		4	105	4	105	---	---	---	---
RGS10	6001	broad.mit.edu	37	10	121275092	121275092	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:121275092C>A	ENST00000369101.3	-	3	331	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369103.2_Missense_Mutation_p.G110W|RGS10_ENST00000392865.1_Missense_Mutation_p.G96W			O43665	RGS10_HUMAN	regulator of G-protein signaling 10	102	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CGAGACTGCCCCTCCACGTTG	0.552																																						ENST00000392865.1																			0				breast(2)|large_intestine(1)|lung(3)	6						c.(286-288)Ggg>Tgg		regulator of G-protein signaling 10							215.0	171.0	186.0					10																	121275092		2203	4300	6503	SO:0001583	missense	6001				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr10:121275092C>A	AF045229	CCDS31294.1, CCDS41572.1	10q25	2007-08-14	2007-08-14		ENSG00000148908	ENSG00000148908		"""Regulators of G-protein signaling"""	9992	protein-coding gene	gene with protein product		602856	"""regulator of G-protein signalling 10"""			8774883	Standard	NM_002925		Approved		uc001leg.3	O43665	OTTHUMG00000019150	ENST00000369101.3:c.304G>T	10.37:g.121275092C>A	ENSP00000358097:p.Gly102Trp					RGS10_ENST00000469575.1_Intron|RGS10_ENST00000369101.3_Missense_Mutation_p.G102W|RGS10_ENST00000369103.2_Missense_Mutation_p.G110W	p.G96W	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)	4	348	-		Lung NSC(174;0.094)|all_lung(145;0.123)	102			RGS.		A8K408|B1AMR8|Q6IAZ6|Q96GN0	Missense_Mutation	SNP	ENST00000369101.3	37	c.286G>T		.	.	.	.	.	.	.	.	.	.	C	22.3	4.265323	0.80358	.	.	ENSG00000148908	ENST00000392865;ENST00000369103;ENST00000369101	T;T;T	0.02395	4.31;4.31;4.31	5.81	5.81	0.92471	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.15652	0.0377	M	0.70275	2.135	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.00164	-1.1968	10	0.38643	T	0.18	-11.4851	19.6849	0.95977	0.0:1.0:0.0:0.0	.	110;96;102	O43665-3;O43665-2;O43665	.;.;RGS10_HUMAN	W	96;110;102	ENSP00000376605:G96W;ENSP00000358099:G110W;ENSP00000358097:G102W	ENSP00000358097:G102W	G	-	1	0	RGS10	121265082	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.361000	0.59461	2.748000	0.94277	0.462000	0.41574	GGG		0.552	RGS10-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050655.1	NM_002925		4	69	4	69	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123970974	123970974	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:123970974C>A	ENST00000369005.1	+	9	7374	c.7034C>A	c.(7033-7035)cCc>cAc	p.P2345H	TACC2_ENST00000368999.1_Missense_Mutation_p.P423H|TACC2_ENST00000515273.1_Missense_Mutation_p.P2349H|TACC2_ENST00000369004.3_Missense_Mutation_p.P423H|TACC2_ENST00000369000.1_Missense_Mutation_p.P49H|TACC2_ENST00000453444.2_Missense_Mutation_p.P2349H|TACC2_ENST00000369001.1_Missense_Mutation_p.P49H|TACC2_ENST00000515603.1_Missense_Mutation_p.P2300H|TACC2_ENST00000513429.1_Missense_Mutation_p.P491H|TACC2_ENST00000358010.1_Missense_Mutation_p.P491H|TACC2_ENST00000334433.3_Missense_Mutation_p.P2345H|TACC2_ENST00000360561.3_Missense_Mutation_p.P423H|TACC2_ENST00000260733.3_Missense_Mutation_p.P423H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2345	SPAZ.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGGGATGACCCCAATTTTAAC	0.473																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7033-7035)cCc>cAc		transforming, acidic coiled-coil containing protein 2							190.0	202.0	198.0					10																	123970974		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970974C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7034C>A	10.37:g.123970974C>A	ENSP00000358001:p.Pro2345His					TACC2_ENST00000368999.1_Missense_Mutation_p.P423H|TACC2_ENST00000453444.2_Missense_Mutation_p.P2349H|TACC2_ENST00000369001.1_Missense_Mutation_p.P49H|TACC2_ENST00000358010.1_Missense_Mutation_p.P491H|TACC2_ENST00000513429.1_Missense_Mutation_p.P491H|TACC2_ENST00000369000.1_Missense_Mutation_p.P49H|TACC2_ENST00000515273.1_Missense_Mutation_p.P2349H|TACC2_ENST00000334433.3_Missense_Mutation_p.P2345H|TACC2_ENST00000369004.3_Missense_Mutation_p.P423H|TACC2_ENST00000260733.3_Missense_Mutation_p.P423H|TACC2_ENST00000360561.3_Missense_Mutation_p.P423H|TACC2_ENST00000515603.1_Missense_Mutation_p.P2300H	p.P2345H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	7374	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2345			SPAZ.		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.7034C>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005424	0.74932	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.46063	2.88;2.39;2.97;2.91;2.88;2.39;2.97;0.92;0.88;2.16;2.26;2.23;2.24;2.03;1.37	4.74	4.74	0.60224	.	0.000000	0.36482	N	0.002574	T	0.67618	0.2912	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;0.999	T	0.72487	-0.4278	10	0.59425	D	0.04	-13.7882	18.1162	0.89556	0.0:1.0:0.0:0.0	.	440;2349;423;2300;2349;423;423;49;491;2345	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-2;O95359-5;O95359	.;.;.;.;.;.;.;.;.;TACC2_HUMAN	H	2345;491;2349;2300;2345;491;2349;2335;49;49;423;423;423;423;440;84	ENSP00000358001:P2345H;ENSP00000425062:P491H;ENSP00000424467:P2349H;ENSP00000427618:P2300H;ENSP00000334280:P2345H;ENSP00000350701:P491H;ENSP00000395048:P2349H;ENSP00000357997:P49H;ENSP00000357996:P49H;ENSP00000353763:P423H;ENSP00000357995:P423H;ENSP00000422815:P423H;ENSP00000260733:P423H;ENSP00000420967:P440H;ENSP00000422725:P84H	ENSP00000260733:P423H	P	+	2	0	TACC2	123960964	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.662000	0.83803	2.357000	0.79964	0.555000	0.69702	CCC		0.473	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			8	510	8	510	---	---	---	---
BTBD16	118663	broad.mit.edu	37	10	124049456	124049456	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:124049456C>A	ENST00000260723.4	+	6	669	c.418C>A	c.(418-420)Cct>Act	p.P140T	BTBD16_ENST00000368994.2_Missense_Mutation_p.P141T	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	140										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AGAAAAATCCCCTGCAAAGAG	0.428																																						ENST00000368994.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15						c.(421-423)Cct>Act		BTB (POZ) domain containing 16							153.0	151.0	152.0					10																	124049456		2203	4300	6503	SO:0001583	missense	118663							g.chr10:124049456C>A	AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.418C>A	10.37:g.124049456C>A	ENSP00000260723:p.Pro140Thr					BTBD16_ENST00000260723.4_Missense_Mutation_p.P140T	p.P141T			Q32M84	BTBDG_HUMAN			6	672	+		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)	140					A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	ENST00000260723.4	37	c.421C>A	CCDS31301.1	.	.	.	.	.	.	.	.	.	.	C	8.720	0.914184	0.17907	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.17691	2.26;2.26	4.33	2.43	0.29744	BTB/POZ fold (2);	0.703032	0.13291	N	0.398990	T	0.16257	0.0391	M	0.72118	2.19	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.20955	0.032;0.032	T	0.38308	-0.9667	10	0.09338	T	0.73	-6.5692	6.715	0.23298	0.0:0.7784:0.0:0.2216	.	141;140	Q32M84-2;Q32M84	.;BTBDG_HUMAN	T	140;141	ENSP00000260723:P140T;ENSP00000357990:P141T	ENSP00000260723:P140T	P	+	1	0	BTBD16	124039446	0.000000	0.05858	0.011000	0.14972	0.019000	0.09904	0.345000	0.19979	1.026000	0.39733	0.561000	0.74099	CCT		0.428	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050780.3	NM_144587		6	290	6	290	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127731623	127731623	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:127731623G>T	ENST00000368679.4	-	18	2408	c.2099C>A	c.(2098-2100)cCc>cAc	p.P700H	ADAM12_ENST00000368676.4_Missense_Mutation_p.P700H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	700					cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTGCCGGATGGGGCCGCTGTC	0.627																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2098-2100)cCc>cAc		ADAM metallopeptidase domain 12							62.0	52.0	56.0					10																	127731623		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127731623G>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.2099C>A	10.37:g.127731623G>T	ENSP00000357668:p.Pro700His					ADAM12_ENST00000368676.4_Missense_Mutation_p.P700H	p.P700H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	18	2408	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	700					O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.2099C>A	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784344	0.90282	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	D;D	0.87571	-2.27;-2.27	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.93226	0.7842	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.94041	0.7309	10	0.87932	D	0	.	17.9771	0.89130	0.0:0.0:1.0:0.0	.	697;697;700;697;700	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	H	700	ENSP00000357668:P700H;ENSP00000357665:P700H	ENSP00000357665:P700H	P	-	2	0	ADAM12	127721613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.114000	0.94329	2.465000	0.83290	0.561000	0.74099	CCC		0.627	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			4	43	4	43	---	---	---	---
ADAM12	8038	broad.mit.edu	37	10	127787032	127787032	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:127787032G>T	ENST00000368679.4	-	10	1267	c.958C>A	c.(958-960)Cca>Aca	p.P320T	ADAM12_ENST00000368676.4_Missense_Mutation_p.P320T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	320	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CTCATGATTGGGGCCATGCCG	0.473																																						ENST00000368679.4																			0				biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(958-960)Cca>Aca		ADAM metallopeptidase domain 12							161.0	152.0	155.0					10																	127787032		2203	4300	6503	SO:0001583	missense	8038				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	g.chr10:127787032G>T	AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.958C>A	10.37:g.127787032G>T	ENSP00000357668:p.Pro320Thr					ADAM12_ENST00000368676.4_Missense_Mutation_p.P320T	p.P320T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)	10	1267	-		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)	320			Peptidase M12B.		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	ENST00000368679.4	37	c.958C>A	CCDS7653.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629513	0.87660	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	D;D	0.86366	-2.11;-2.11	4.83	4.83	0.62350	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.91730	0.7385	L	0.53249	1.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;1.0	D	0.90285	0.4318	10	0.35671	T	0.21	.	18.4753	0.90790	0.0:0.0:1.0:0.0	.	317;317;320;317;320	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	T	320	ENSP00000357668:P320T;ENSP00000357665:P320T	ENSP00000357665:P320T	P	-	1	0	ADAM12	127777022	1.000000	0.71417	0.172000	0.22920	0.931000	0.56810	9.463000	0.97652	2.655000	0.90218	0.655000	0.94253	CCA		0.473	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050961.1			7	362	7	362	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129923869	129923869	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:129923869G>T	ENST00000368654.3	-	2	438	c.63C>A	c.(61-63)ccC>ccA	p.P21P	MKI67_ENST00000368653.3_Silent_p.P21P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	21					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGAGGCTCAGGGGAAAGTGGG	0.527																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(61-63)ccC>ccA		marker of proliferation Ki-67							79.0	92.0	87.0					10																	129923869		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129923869G>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.63C>A	10.37:g.129923869G>T						MKI67_ENST00000368653.3_Silent_p.P21P	p.P21P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			2	438	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	21					Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.63C>A	CCDS7659.1																																																																																				0.527	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		6	189	6	189	---	---	---	---
EBF3	253738	broad.mit.edu	37	10	131640484	131640484	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:131640484G>T	ENST00000355311.5	-	13	1340	c.1268C>A	c.(1267-1269)cCc>cAc	p.P423H	EBF3_ENST00000368648.3_Missense_Mutation_p.P414H|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	423					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)		GCCCAGGGTGGGGATCTGGTT	0.617																																						ENST00000368648.3																			0				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						c.(1240-1242)cCc>cAc		early B-cell factor 3							241.0	197.0	212.0					10																	131640484		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131640484G>T		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.1268C>A	10.37:g.131640484G>T	ENSP00000347463:p.Pro423His					EBF3_ENST00000355311.5_Missense_Mutation_p.P423H	p.P414H	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	13	1313	-		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)	423					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1241C>A		.	.	.	.	.	.	.	.	.	.	G	35	5.433077	0.96150	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.41400	1.0;1.0	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	L	0.60455	1.87	0.80722	D	1	P	0.52316	0.952	P	0.55785	0.784	T	0.57323	-0.7831	10	0.59425	D	0.04	-15.4467	19.856	0.96761	0.0:0.0:1.0:0.0	.	414	Q9H4W6-2	.	H	423;414	ENSP00000347463:P423H;ENSP00000357637:P414H	ENSP00000347463:P423H	P	-	2	0	EBF3	131530474	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.771000	0.98977	2.776000	0.95493	0.650000	0.86243	CCC		0.617	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		7	282	7	282	---	---	---	---
DUSP8	1850	broad.mit.edu	37	11	1579410	1579410	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:1579410C>A	ENST00000397374.3	-	5	756	c.629G>T	c.(628-630)cGg>cTg	p.R210L	DUSP8_ENST00000331588.4_Missense_Mutation_p.R210L|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	210	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GATGGGGACCCGCATGAAGCG	0.577																																						ENST00000397374.3																			0				endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5						c.(628-630)cGg>cTg		dual specificity phosphatase 8							82.0	85.0	84.0					11																	1579410		2202	4299	6501	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1579410C>A		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.629G>T	11.37:g.1579410C>A	ENSP00000380530:p.Arg210Leu					DUSP8_ENST00000331588.4_Missense_Mutation_p.R210L|DUSP8_ENST00000528778.1_5'UTR	p.R210L	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	5	756	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	210			Tyrosine-protein phosphatase.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.629G>T	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806030	0.90623	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.60920	0.15;0.15	3.65	3.65	0.41850	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.077137	0.52532	D	0.000064	T	0.77232	0.4100	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82402	-0.0475	10	0.72032	D	0.01	.	15.9099	0.79463	0.0:1.0:0.0:0.0	.	210	Q13202	DUS8_HUMAN	L	210	ENSP00000380530:R210L;ENSP00000329539:R210L	ENSP00000329539:R210L	R	-	2	0	DUSP8	1535986	1.000000	0.71417	0.984000	0.44739	0.746000	0.42486	5.644000	0.67902	2.058000	0.61347	0.313000	0.20887	CGG		0.577	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		4	167	4	167	---	---	---	---
ZNF195	7748	broad.mit.edu	37	11	3381267	3381267	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:3381267C>A	ENST00000399602.4	-	6	1097	c.971G>T	c.(970-972)gGg>gTg	p.G324V	ZNF195_ENST00000429541.2_Missense_Mutation_p.G256V|ZNF195_ENST00000343338.7_Missense_Mutation_p.G256V|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000354599.6_Missense_Mutation_p.G252V|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Missense_Mutation_p.G305V|ZNF195_ENST00000005082.9_Missense_Mutation_p.G301V	NM_001130520.2	NP_001123992.1	O14628	ZN195_HUMAN	zinc finger protein 195	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)			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTAATGTTCCCCTCCGGCATA	0.388																																						ENST00000354599.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(754-756)gGg>gTg		zinc finger protein 195							104.0	98.0	100.0					11																	3381267		1883	4125	6008	SO:0001583	missense	7748				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:3381267C>A		CCDS41604.1, CCDS44521.1, CCDS44522.1, CCDS55736.1, CCDS55737.1, CCDS58111.1	11p15.5	2013-01-08			ENSG00000005801	ENSG00000005801		"""Zinc fingers, C2H2-type"", ""-"""	12986	protein-coding gene	gene with protein product		602187				9344677	Standard	NM_001130520		Approved		uc001lxt.3	O14628	OTTHUMG00000011694	ENST00000399602.4:c.971G>T	11.37:g.3381267C>A	ENSP00000382511:p.Gly324Val					ZNF195_ENST00000399602.4_Missense_Mutation_p.G324V|ZNF195_ENST00000343338.7_Missense_Mutation_p.G256V|ZNF195_ENST00000005082.9_Missense_Mutation_p.G301V|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000438262.2_3'UTR|ZNF195_ENST00000429541.2_Missense_Mutation_p.G256V|ZNF195_ENST00000526601.1_Missense_Mutation_p.G305V	p.G252V	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)	4	859	-		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)	324					A8K234|B3KTK2|B4DEL0|C9JLY9|L7MNK2|Q0VAJ6|Q658N8|Q6ZNA9	Missense_Mutation	SNP	ENST00000399602.4	37	c.755G>T	CCDS44522.1	.	.	.	.	.	.	.	.	.	.	c	11.70	1.717341	0.30413	.	.	ENSG00000005801	ENST00000354599;ENST00000399602;ENST00000343338;ENST00000429541;ENST00000005082;ENST00000526601	T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24	0.683	-1.37	0.09056	.	.	.	.	.	T	0.52629	0.1746	N	0.20574	0.59	0.37842	D	0.929095	D;B;D;B;D;B	0.89917	0.997;0.116;1.0;0.184;1.0;0.184	D;B;D;B;D;B	0.87578	0.996;0.007;0.998;0.016;0.994;0.016	T	0.57201	-0.7852	9	0.87932	D	0	.	1.9108	0.03287	0.2695:0.2654:0.0:0.4651	.	305;183;301;256;324;252	O14628-6;Q59EZ7;O14628-5;O14628-7;O14628;O14628-4	.;.;.;.;ZN195_HUMAN;.	V	252;324;256;256;301;305	ENSP00000346613:G252V;ENSP00000382511:G324V;ENSP00000344483:G256V;ENSP00000387998:G256V;ENSP00000005082:G301V;ENSP00000435828:G305V	ENSP00000005082:G301V	G	-	2	0	ZNF195	3337843	0.004000	0.15560	0.000000	0.03702	0.075000	0.17131	0.876000	0.28092	-0.979000	0.03529	0.305000	0.20034	GGG		0.388	ZNF195-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032321.2			6	370	6	370	---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4144501	4144501	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:4144501C>A	ENST00000300738.5	+	12	1411	c.1207C>A	c.(1207-1209)Ccg>Acg	p.P403T	RRM1_ENST00000537197.1_Missense_Mutation_p.P65T|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000534285.1_Missense_Mutation_p.P181T|RRM1_ENST00000423050.2_Missense_Mutation_p.P306T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	403					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AACAGGCACCCCGTATATGCT	0.463																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(1207-1209)Ccg>Acg		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						108.0	107.0	108.0					11																	4144501		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4144501C>A	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1207C>A	11.37:g.4144501C>A	ENSP00000300738:p.Pro403Thr					RRM1_ENST00000423050.2_Missense_Mutation_p.P306T|RRM1_ENST00000537197.1_Missense_Mutation_p.P65T|RRM1_ENST00000534285.1_Missense_Mutation_p.P181T|RRM1_ENST00000528470.1_3'UTR	p.P403T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	12	1411	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	403					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.1207C>A	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000342	0.74818	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	5.71	5.71	0.89125	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.88343	0.6411	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.92699	0.6173	10	0.87932	D	0	-8.6485	18.8429	0.92192	0.0:1.0:0.0:0.0	.	403	P23921	RIR1_HUMAN	T	403;306;316;181;181;65	ENSP00000300738:P403T;ENSP00000390539:P306T;ENSP00000431464:P181T;ENSP00000442148:P65T	ENSP00000300738:P403T	P	+	1	0	RRM1	4101077	1.000000	0.71417	0.998000	0.56505	0.270000	0.26580	7.487000	0.81328	2.706000	0.92434	0.563000	0.77884	CCG		0.463	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		7	202	7	202	---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4148347	4148347	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:4148347C>A	ENST00000300738.5	+	14	1757	c.1553C>A	c.(1552-1554)cCt>cAt	p.P518H	RRM1_ENST00000537197.1_Missense_Mutation_p.P180H|RRM1_ENST00000534285.1_Missense_Mutation_p.P296H|RRM1_ENST00000423050.2_Missense_Mutation_p.P421H	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	518					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATGAGATACCCTTTTGAGAGT	0.458																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	ENST00000300738.5																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14						c.(1552-1554)cCt>cAt		ribonucleotide reductase M1	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						122.0	126.0	124.0					11																	4148347		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4148347C>A	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1553C>A	11.37:g.4148347C>A	ENSP00000300738:p.Pro518His					RRM1_ENST00000423050.2_Missense_Mutation_p.P421H|RRM1_ENST00000537197.1_Missense_Mutation_p.P180H|RRM1_ENST00000534285.1_Missense_Mutation_p.P296H	p.P518H	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	14	1757	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	518					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.1553C>A	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104971	0.77096	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.54	4.63	0.57726	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (2);	0.046813	0.85682	D	0.000000	T	0.72969	0.3527	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.79495	-0.1780	10	0.87932	D	0	-7.4537	13.3562	0.60629	0.0:0.923:0.0:0.077	.	518	P23921	RIR1_HUMAN	H	518;421;431;296;296;180	ENSP00000300738:P518H;ENSP00000390539:P421H;ENSP00000431464:P296H;ENSP00000442148:P180H	ENSP00000300738:P518H	P	+	2	0	RRM1	4104923	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.393000	0.79851	1.478000	0.48253	0.655000	0.94253	CCT		0.458	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		6	297	6	297	---	---	---	---
OR52I1	390037	broad.mit.edu	37	11	4615305	4615305	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:4615305C>A	ENST00000530443.2	+	1	37	c.37C>A	c.(37-39)Cct>Act	p.P13T	OR52I1_ENST00000450052.2_Missense_Mutation_p.P37T	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, 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)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGGAAACCCCTGCCTCCTT	0.473																																						ENST00000450052.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15						c.(109-111)Cct>Act		olfactory receptor, family 52, subfamily I, member 1							179.0	173.0	175.0					11																	4615305		2201	4298	6499	SO:0001583	missense	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615305C>A	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.37C>A	11.37:g.4615305C>A	ENSP00000436453:p.Pro13Thr					OR52I1_ENST00000530443.2_Missense_Mutation_p.P13T	p.P37T			Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	109	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	13					Q6IF91	Missense_Mutation	SNP	ENST00000530443.2	37	c.109C>A	CCDS59223.1	.	.	.	.	.	.	.	.	.	.	C	4.041	0.005273	0.07866	.	.	ENSG00000232268	ENST00000450052;ENST00000530443	T;T	0.51071	0.72;0.72	4.82	1.43	0.22495	.	0.262401	0.20332	N	0.094408	T	0.45054	0.1323	M	0.81802	2.56	0.29978	N	0.817965	B	0.25850	0.136	B	0.21151	0.033	T	0.54275	-0.8318	9	0.62326	D	0.03	-4.4316	6.901	0.24283	0.3536:0.558:0.0:0.0884	.	13	Q8NGK6	O52I1_HUMAN	T	37;13	ENSP00000409094:P37T;ENSP00000436453:P13T	ENSP00000409094:P37T	P	+	1	0	OR52I1	4571881	0.033000	0.19621	0.601000	0.28877	0.117000	0.20001	0.719000	0.25881	0.615000	0.30124	-0.300000	0.09419	CCT		0.473	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		6	382	6	382	---	---	---	---
HBB	3043	broad.mit.edu	37	11	5247873	5247873	+	Missense_Mutation	SNP	C	C	A	rs33991993		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:5247873C>A	ENST00000335295.4	-	2	298	c.249G>T	c.(247-249)aaG>aaT	p.K83N	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	83		Not glycated.	K -> M (in Helsinki; O(2) affinity up). {ECO:0000269|PubMed:826083}.|K -> N (in Providence).		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAAAGGTGCCCTTGAGGTTGT	0.537									Sickle Cell Trait																													ENST00000335295.4																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15						c.(247-249)aaG>aaT		hemoglobin, beta	Iron Dextran(DB00893)						141.0	119.0	126.0					11																	5247873		2201	4298	6499	SO:0001583	missense	3043	Sickle Cell Trait	Familial Cancer Database		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	g.chr11:5247873C>A	J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.249G>T	11.37:g.5247873C>A	ENSP00000333994:p.Lys83Asn						p.K83N	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	298	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)			K -> M (in Helsinki; O(2) affinity up).|K -> N (in Providence).		Not glycated.	A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	c.249G>T	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.939652	0.73557	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.93307	-3.2;-3.2	5.24	4.32	0.51571	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.95937	0.8677	M	0.86268	2.805	0.80722	D	1	P	0.45044	0.849	P	0.55749	0.783	D	0.96427	0.9316	9	0.87932	D	0	-11.1627	13.2852	0.60239	0.0:0.922:0.0:0.078	rs33991993	83	P68871	HBB_HUMAN	N	83	ENSP00000333994:K83N;ENSP00000369671:K83N	ENSP00000333994:K83N	K	-	3	2	HBB	5204449	0.854000	0.29725	1.000000	0.80357	0.590000	0.36582	1.666000	0.37460	1.550000	0.49438	0.650000	0.86243	AAG		0.537	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		6	142	6	142	---	---	---	---
OR56B1	387748	broad.mit.edu	37	11	5758698	5758698	+	Missense_Mutation	SNP	C	C	A	rs148131819	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:5758698C>A	ENST00000317121.3	+	1	1018	c.952C>A	c.(952-954)Ctt>Att	p.L318I	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTGTTTGCCCTTACAAAAGA	0.408																																						ENST00000317121.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13						c.(952-954)Ctt>Att		olfactory receptor, family 56, subfamily B, member 1							126.0	122.0	123.0					11																	5758698		2201	4297	6498	SO:0001583	missense	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758698C>A	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.952C>A	11.37:g.5758698C>A	ENSP00000322939:p.Leu318Ile					TRIM5_ENST00000380027.1_Intron	p.L318I	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	1018	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	318					B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	c.952C>A	CCDS31395.1	.	.	.	.	.	.	.	.	.	.	C	7.016	0.557669	0.13436	.	.	ENSG00000181023	ENST00000317121	T	0.04603	3.59	5.31	-5.03	0.02973	.	911.360000	0.00575	U	0.000308	T	0.03220	0.0094	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.38373	-0.9664	10	0.21540	T	0.41	17.6218	13.1277	0.59364	0.0:0.3449:0.0:0.6551	.	318	Q8NGI3	O56B1_HUMAN	I	318	ENSP00000322939:L318I	ENSP00000322939:L318I	L	+	1	0	OR56B1	5715274	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.469000	0.02348	-1.239000	0.02532	-0.982000	0.02568	CTT		0.408	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		8	375	8	375	---	---	---	---
OR52N4	390072	broad.mit.edu	37	11	5776301	5776301	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:5776301G>T	ENST00000317254.3	+	1	379	c.331G>T	c.(331-333)Ggg>Tgg	p.G111W	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CACCTTCACAGGGATGGAGTC	0.478																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(331-333)Ggg>Tgg		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							156.0	154.0	154.0					11																	5776301		2201	4297	6498	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776301G>T	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.331G>T	11.37:g.5776301G>T	ENSP00000323224:p.Gly111Trp					TRIM5_ENST00000380027.1_Intron	p.G111W	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	379	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	111					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.331G>T	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101911	0.37048	.	.	ENSG00000181074	ENST00000317254	T	0.10099	2.91	5.97	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000136	T	0.23210	0.0561	M	0.86953	2.85	0.22562	N	0.998981	B	0.26602	0.154	B	0.38880	0.284	T	0.11203	-1.0597	10	0.46703	T	0.11	.	10.3346	0.43841	0.0708:0.0:0.7947:0.1345	.	111	Q8NGI2	O52N4_HUMAN	W	111	ENSP00000323224:G111W	ENSP00000323224:G111W	G	+	1	0	OR52N4	5732877	0.000000	0.05858	1.000000	0.80357	0.955000	0.61496	-0.877000	0.04197	1.532000	0.49169	0.557000	0.71058	GGG		0.478	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		6	246	6	246	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9182364	9182364	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9182364C>A	ENST00000328194.3	-	12	2652	c.2332G>T	c.(2332-2334)Ggg>Tgg	p.G778W	DENND5A_ENST00000527700.1_Missense_Mutation_p.G121W|DENND5A_ENST00000530044.1_Missense_Mutation_p.G778W	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	778					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCCCCATGCCCTAGCTCCACA	0.498																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2332-2334)Ggg>Tgg		DENN/MADD domain containing 5A							207.0	174.0	185.0					11																	9182364		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9182364C>A	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2332G>T	11.37:g.9182364C>A	ENSP00000328524:p.Gly778Trp					DENND5A_ENST00000527700.1_Missense_Mutation_p.G121W|DENND5A_ENST00000530044.1_Missense_Mutation_p.G778W	p.G778W	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			12	2652	-			778					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2332G>T	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060625	0.93846	.	.	ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700	T;T;T	0.34072	2.72;2.71;1.38	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.65709	0.2717	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.68138	-0.5488	10	0.87932	D	0	.	20.1536	0.98095	0.0:1.0:0.0:0.0	.	778;778	E9PS91;Q6IQ26	.;DEN5A_HUMAN	W	778;778;121	ENSP00000328524:G778W;ENSP00000435866:G778W;ENSP00000432549:G121W	ENSP00000328524:G778W	G	-	1	0	DENND5A	9138940	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.815000	0.86186	2.764000	0.94973	0.650000	0.86243	GGG		0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		5	169	5	169	---	---	---	---
DENND5A	23258	broad.mit.edu	37	11	9191477	9191477	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9191477G>T	ENST00000328194.3	-	10	2397	c.2077C>A	c.(2077-2079)Cct>Act	p.P693T	DENND5A_ENST00000527700.1_Missense_Mutation_p.P36T|DENND5A_ENST00000530044.1_Missense_Mutation_p.P693T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	693					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CACTGGGCAGGGGCATTCCTT	0.433																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2077-2079)Cct>Act		DENN/MADD domain containing 5A							248.0	213.0	225.0					11																	9191477		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9191477G>T	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2077C>A	11.37:g.9191477G>T	ENSP00000328524:p.Pro693Thr					DENND5A_ENST00000527700.1_Missense_Mutation_p.P36T|DENND5A_ENST00000530044.1_Missense_Mutation_p.P693T	p.P693T	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			10	2397	-			693					B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.2077C>A	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341851	0.24339	.	.	ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700	T;T;T	0.16324	3.82;3.82;2.35	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.08133	0.0203	N	0.02802	-0.49	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.002;0.004	T	0.22068	-1.0227	10	0.07644	T	0.81	.	18.8896	0.92392	0.0:0.0:1.0:0.0	.	693;693	E9PS91;Q6IQ26	.;DEN5A_HUMAN	T	693;693;36	ENSP00000328524:P693T;ENSP00000435866:P693T;ENSP00000432549:P36T	ENSP00000328524:P693T	P	-	1	0	DENND5A	9148053	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.677000	0.84024	2.459000	0.83118	0.655000	0.94253	CCT		0.433	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		6	352	6	352	---	---	---	---
IPO7	10527	broad.mit.edu	37	11	9430093	9430093	+	Missense_Mutation	SNP	G	G	T	rs148503390		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9430093G>T	ENST00000379719.3	+	3	369	c.227G>T	c.(226-228)gGg>gTg	p.G76V		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	76	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAGCACCAGGGGATATATCC	0.368													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16240	0.0		0.0	False		,,,				2504	0.0					ENST00000379719.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(226-228)gGg>gTg		importin 7		G	VAL/GLY	3,4399		0,3,2198	67.0	69.0	68.0		227	5.7	1.0	11	dbSNP_134	68	0,8592		0,0,4296	yes	missense	IPO7	NM_006391.2	109	0,3,6494	TT,TG,GG		0.0,0.0682,0.0231	benign	76/1039	9430093	3,12991	2201	4296	6497	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9430093G>T	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.227G>T	11.37:g.9430093G>T	ENSP00000369042:p.Gly76Val						p.G76V	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	3	369	+			76			Importin N-terminal.		A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.227G>T	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681426	0.68042	6.82E-4	0.0	ENSG00000205339	ENST00000379719;ENST00000527431	T;T	0.46063	1.75;0.88	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (3);	0.094804	0.64402	D	0.000001	T	0.50905	0.1643	M	0.67397	2.05	0.80722	D	1	B	0.34147	0.438	B	0.39503	0.301	T	0.48422	-0.9037	10	0.45353	T	0.12	.	19.9294	0.97114	0.0:0.0:1.0:0.0	.	76	O95373	IPO7_HUMAN	V	76;14	ENSP00000369042:G76V;ENSP00000435235:G14V	ENSP00000369042:G76V	G	+	2	0	IPO7	9386669	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.872000	0.69636	2.701000	0.92244	0.650000	0.86243	GGG		0.368	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		5	191	5	191	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9867158	9867158	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:9867158G>T	ENST00000256190.8	-	24	3201	c.3064C>A	c.(3064-3066)Cca>Aca	p.P1022T	RP11-1H15.2_ENST00000533659.1_RNA|RNU7-28P_ENST00000516759.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1022					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)		ATTATTTGTGGGGTAGTTTGT	0.383																																						ENST00000256190.8																			0				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						c.(3064-3066)Cca>Aca		SET binding factor 2							152.0	154.0	153.0					11																	9867158		2201	4293	6494	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9867158G>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.3064C>A	11.37:g.9867158G>T	ENSP00000256190:p.Pro1022Thr					RP11-1H15.2_ENST00000533659.1_RNA	p.P1022T	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	24	3201	-			1022					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.3064C>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783025	0.49891	.	.	ENSG00000133812	ENST00000256190	D	0.85339	-1.97	5.87	4.94	0.65067	.	0.048378	0.85682	N	0.000000	T	0.77198	0.4095	L	0.32530	0.975	0.80722	D	1	B	0.17268	0.021	B	0.20184	0.028	T	0.70612	-0.4824	10	0.07030	T	0.85	.	16.1776	0.81862	0.0:0.0:0.8657:0.1343	.	1022	Q86WG5	MTMRD_HUMAN	T	1022	ENSP00000256190:P1022T	ENSP00000256190:P1022T	P	-	1	0	SBF2	9823734	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.621000	0.83083	1.447000	0.47661	0.655000	0.94253	CCA		0.383	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		7	297	7	297	---	---	---	---
PIK3C2A	5286	broad.mit.edu	37	11	17111359	17111359	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:17111359G>T	ENST00000265970.7	-	32	4986	c.4987C>A	c.(4987-4989)Ctg>Atg	p.L1663M	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L1283M	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1663					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTCAAAGGCAGGGTTACTCCA	0.423																																						ENST00000265970.7																			0				central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(4987-4989)Ctg>Atg		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	Phosphatidylserine(DB00144)						175.0	180.0	179.0					11																	17111359		2200	4294	6494	SO:0001583	missense	5286				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr11:17111359G>T	Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.4987C>A	11.37:g.17111359G>T	ENSP00000265970:p.Leu1663Met					PIK3C2A_ENST00000540361.1_Missense_Mutation_p.L1283M|PIK3C2A_ENST00000531428.1_Intron	p.L1663M	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN			32	4986	-			1663					B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	c.4987C>A	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503405	0.64298	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.13420	2.59;2.59	5.58	4.68	0.58851	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.063428	0.64402	D	0.000006	T	0.33411	0.0862	M	0.66939	2.045	0.58432	D	0.999997	D	0.76494	0.999	D	0.85130	0.997	T	0.05257	-1.0896	10	0.72032	D	0.01	-5.9385	10.777	0.46356	0.1445:0.0:0.8555:0.0	.	1663	O00443	P3C2A_HUMAN	M	1663;1283	ENSP00000265970:L1663M;ENSP00000438687:L1283M	ENSP00000265970:L1663M	L	-	1	2	PIK3C2A	17067935	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	4.928000	0.63447	1.507000	0.48752	0.655000	0.94253	CTG		0.423	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645		7	513	7	513	---	---	---	---
MRGPRX2	117194	broad.mit.edu	37	11	19077926	19077926	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:19077926C>A	ENST00000329773.2	-	2	111	c.24G>T	c.(22-24)tgG>tgT	p.W8C		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	8					positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TTTCTGTTCCCCAGGCCGGGG	0.502																																					GBM(198;1966 2199 4849 37227 49954)	ENST00000329773.2																			0				NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						c.(22-24)tgG>tgT		MAS-related GPR, member X2							177.0	195.0	189.0					11																	19077926		2199	4293	6492	SO:0001583	missense	117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077926C>A		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098	ENST00000329773.2:c.24G>T	11.37:g.19077926C>A	ENSP00000333800:p.Trp8Cys						p.W8C	NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN			2	111	-			8					B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Missense_Mutation	SNP	ENST00000329773.2	37	c.24G>T	CCDS7847.1	.	.	.	.	.	.	.	.	.	.	.	13.25	2.181362	0.38511	.	.	ENSG00000183695	ENST00000329773	T	0.06608	3.28	5.04	-4.97	0.03029	.	2.017350	0.01934	N	0.041440	T	0.15089	0.0364	M	0.64404	1.975	0.09310	N	1	D	0.69078	0.997	P	0.61800	0.894	T	0.42447	-0.9451	10	0.41790	T	0.15	.	4.4213	0.11481	0.5111:0.2278:0.1894:0.0717	.	8	Q96LB1	MRGX2_HUMAN	C	8	ENSP00000333800:W8C	ENSP00000333800:W8C	W	-	3	0	MRGPRX2	19034502	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.055000	0.14229	-0.588000	0.05882	-0.140000	0.14226	TGG		0.502	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		9	517	9	517	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20070636	20070636	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:20070636G>T	ENST00000396087.3	+	16	4433	c.4334G>T	c.(4333-4335)gGg>gTg	p.G1445V	NAV2_ENST00000360655.4_Missense_Mutation_p.G1358V|NAV2_ENST00000311043.8_Missense_Mutation_p.G508V|NAV2_ENST00000540292.1_Missense_Mutation_p.G1376V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000533917.1_Missense_Mutation_p.G508V|NAV2_ENST00000527559.2_Missense_Mutation_p.G1374V|NAV2_ENST00000349880.4_Missense_Mutation_p.G1422V|NAV2_ENST00000396085.1_Missense_Mutation_p.G1422V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1445	Ser-rich.				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						AGCAGTGGAGGGGTCCCCAGC	0.567																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(4264-4266)gGg>gTg		neuron navigator 2							135.0	132.0	133.0					11																	20070636		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20070636G>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.4334G>T	11.37:g.20070636G>T	ENSP00000379396:p.Gly1445Val					NAV2_ENST00000527559.2_Missense_Mutation_p.G1374V|NAV2_ENST00000349880.4_Missense_Mutation_p.G1422V|NAV2_ENST00000311043.8_Missense_Mutation_p.G508V|NAV2_ENST00000540292.1_Missense_Mutation_p.G1376V|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000533917.1_Missense_Mutation_p.G508V|NAV2_ENST00000360655.4_Missense_Mutation_p.G1358V|NAV2_ENST00000396087.3_Missense_Mutation_p.G1445V	p.G1422V	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			15	4626	+			1445			Ser-rich.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.4265G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.731748	0.48939	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.30448	1.59;1.69;1.69;1.65;1.53;1.53;3.22;1.83;3.22	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000002	T	0.49592	0.1566	L	0.43923	1.385	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;1.0;0.997;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.964;0.998;0.956;1.0;1.0	T	0.15723	-1.0427	9	.	.	.	.	18.7629	0.91860	0.0:0.0:1.0:0.0	.	1422;1445;508;508;1422;1358	A7E2D6;Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	.;NAV2_HUMAN;.;.;.;.	V	1358;1422;1422;1445;1374;1376;508;508;508;508	ENSP00000353871:G1358V;ENSP00000379394:G1422V;ENSP00000309577:G1422V;ENSP00000379396:G1445V;ENSP00000435395:G1374V;ENSP00000443489:G1376V;ENSP00000437316:G508V;ENSP00000437136:G508V;ENSP00000312169:G508V	.	G	+	2	0	NAV2	20027212	1.000000	0.71417	0.990000	0.47175	0.243000	0.25628	6.289000	0.72696	2.941000	0.99782	0.655000	0.94253	GGG		0.567	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		6	226	6	226	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20104694	20104694	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:20104694C>A	ENST00000396087.3	+	29	5743	c.5644C>A	c.(5644-5646)Cca>Aca	p.P1882T	NAV2_ENST00000360655.4_Missense_Mutation_p.P1759T|NAV2_ENST00000311043.8_Missense_Mutation_p.P887T|NAV2_ENST00000540292.1_Missense_Mutation_p.P1813T|NAV2_ENST00000533917.1_Missense_Mutation_p.P887T|NAV2_ENST00000527559.2_Missense_Mutation_p.P1811T|NAV2_ENST00000349880.4_Missense_Mutation_p.P1823T|NAV2_ENST00000396085.1_Missense_Mutation_p.P1826T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1882					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						AGGTTCCACCCCACTGCTGAG	0.488																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(5476-5478)Cca>Aca		neuron navigator 2							154.0	137.0	143.0					11																	20104694		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20104694C>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.5644C>A	11.37:g.20104694C>A	ENSP00000379396:p.Pro1882Thr					NAV2_ENST00000527559.2_Missense_Mutation_p.P1811T|NAV2_ENST00000349880.4_Missense_Mutation_p.P1823T|NAV2_ENST00000311043.8_Missense_Mutation_p.P887T|NAV2_ENST00000540292.1_Missense_Mutation_p.P1813T|NAV2_ENST00000533917.1_Missense_Mutation_p.P887T|NAV2_ENST00000360655.4_Missense_Mutation_p.P1759T|NAV2_ENST00000396087.3_Missense_Mutation_p.P1882T	p.P1826T	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			27	5837	+			1882			Poly-Lys.		A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.5476C>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124829	0.56613	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	D;D;D;D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22;-3.22	5.86	2.88	0.33553	.	0.088937	0.49305	D	0.000141	D	0.92776	0.7703	L	0.43923	1.385	0.48452	D	0.999652	B;P;B;D	0.53462	0.035;0.774;0.203;0.96	B;B;B;P	0.51742	0.017;0.236;0.039;0.678	D	0.90318	0.4342	9	.	.	.	.	17.078	0.86591	0.0:0.6435:0.3564:0.0	.	1826;887;1823;1759	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	T	1759;1826;1823;1882;1811;1813;887;887	ENSP00000353871:P1759T;ENSP00000379394:P1826T;ENSP00000309577:P1823T;ENSP00000379396:P1882T;ENSP00000435395:P1811T;ENSP00000443489:P1813T;ENSP00000437316:P887T;ENSP00000312169:P887T	.	P	+	1	0	NAV2	20061270	1.000000	0.71417	0.008000	0.14137	0.980000	0.70556	4.036000	0.57304	0.342000	0.23796	0.655000	0.94253	CCA		0.488	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		7	171	7	171	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22296150	22296150	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:22296150C>A	ENST00000324559.8	+	20	2588	c.2271C>A	c.(2269-2271)ccC>ccA	p.P757P	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	757					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACATCATTCCCCGTCTAGTTT	0.358																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2269-2271)ccC>ccA		anoctamin 5							137.0	121.0	126.0					11																	22296150		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22296150C>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2271C>A	11.37:g.22296150C>A						ANO5_ENST00000532043.1_3'UTR	p.P757P	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			20	2588	+			757						Silent	SNP	ENST00000324559.8	37	c.2271C>A	CCDS31444.1																																																																																				0.358	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		8	255	8	255	---	---	---	---
EXT2	2132	broad.mit.edu	37	11	44146521	44146521	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:44146521C>A	ENST00000343631.3	+	5	1055	c.926C>A	c.(925-927)cCa>cAa	p.P309Q	EXT2_ENST00000533608.1_Missense_Mutation_p.P309Q|EXT2_ENST00000358681.4_Missense_Mutation_p.P309Q|EXT2_ENST00000395673.3_Missense_Mutation_p.P342Q			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	309					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCGATTACCCACAGGTGCTA	0.488			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses																													ENST00000395673.3			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	"""Mis, N, F, S"""	multiple exostoses type 2 gene			M		"""exostoses, osteosarcoma"""			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32	GRCh37	CD054333	EXT2	D		c.(1024-1026)cCa>cAa		exostosin glycosyltransferase 2							82.0	75.0	77.0					11																	44146521		2203	4299	6502	SO:0001583	missense	2132	Hereditary Multiple Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44146521C>A		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.926C>A	11.37:g.44146521C>A	ENSP00000342656:p.Pro309Gln					EXT2_ENST00000358681.4_Missense_Mutation_p.P309Q|EXT2_ENST00000533608.1_Missense_Mutation_p.P309Q|EXT2_ENST00000343631.3_Missense_Mutation_p.P309Q	p.P342Q	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN			5	1081	+			309					B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.1025C>A	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587702	0.86851	.	.	ENSG00000151348	ENST00000533608;ENST00000358681;ENST00000395673;ENST00000343631	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.97770	0.9268	L	0.51422	1.61	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.99;0.999;0.998;0.999;0.999	D	0.96599	0.9443	10	0.25106	T	0.35	-15.387	20.0826	0.97783	0.0:1.0:0.0:0.0	.	309;309;309;309;322	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	Q	309;309;342;309	ENSP00000431173:P309Q;ENSP00000351509:P309Q;ENSP00000379032:P342Q;ENSP00000342656:P309Q	ENSP00000342656:P309Q	P	+	2	0	EXT2	44103097	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.300000	0.78841	2.746000	0.94184	0.655000	0.94253	CCA		0.488	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401		5	135	5	135	---	---	---	---
PRDM11	56981	broad.mit.edu	37	11	45245859	45245859	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:45245859G>T	ENST00000530656.1	+	7	936	c.936G>T	c.(934-936)caG>caT	p.Q312H	PRDM11_ENST00000263765.4_Missense_Mutation_p.Q312H|PRDM11_ENST00000424263.2_Missense_Mutation_p.Q278H|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	312							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TGCTGAGACAGGGCAAAAGTC	0.507																																					NSCLC(118;1511 1736 6472 36603 43224)	ENST00000263765.4																			0				endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						c.(934-936)caG>caT		PR domain containing 11							127.0	137.0	133.0					11																	45245859		2203	4299	6502	SO:0001583	missense	56981							g.chr11:45245859G>T	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.936G>T	11.37:g.45245859G>T	ENSP00000435976:p.Gln312His					PRDM11_ENST00000424263.2_Missense_Mutation_p.Q278H|PRDM11_ENST00000530656.1_Missense_Mutation_p.Q312H|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA	p.Q312H			Q9NQV5	PRD11_HUMAN			8	1185	+			312					Q8N9F1	Missense_Mutation	SNP	ENST00000530656.1	37	c.936G>T		.	.	.	.	.	.	.	.	.	.	G	11.54	1.667983	0.29604	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.49720	0.77;0.77;0.77	5.54	3.51	0.40186	.	0.113307	0.40222	N	0.001158	T	0.26557	0.0649	N	0.12182	0.205	0.30250	N	0.794128	B	0.14438	0.01	B	0.11329	0.006	T	0.10064	-1.0646	10	0.49607	T	0.09	-25.7442	7.504	0.27534	0.1523:0.0:0.6837:0.164	.	312	Q9NQV5	PRD11_HUMAN	H	312;312;278	ENSP00000263765:Q312H;ENSP00000435976:Q312H;ENSP00000394314:Q278H	ENSP00000263765:Q312H	Q	+	3	2	PRDM11	45202435	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.827000	0.27421	2.637000	0.89404	0.650000	0.86243	CAG		0.507	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229		8	345	8	345	---	---	---	---
NR1H3	10062	broad.mit.edu	37	11	47281462	47281462	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47281462G>T	ENST00000467728.1	+	2	1402	c.164G>T	c.(163-165)gGg>gTg	p.G55V	NR1H3_ENST00000481889.2_Missense_Mutation_p.G10V|NR1H3_ENST00000395397.3_Missense_Mutation_p.G10V|NR1H3_ENST00000441012.2_Missense_Mutation_p.G55V|NR1H3_ENST00000407404.1_Missense_Mutation_p.G55V|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000405853.3_Missense_Mutation_p.G55V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Missense_Mutation_p.G10V			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	55					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGTACTGCAGGGGTGGGGCTG	0.657											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(163-165)gGg>gTg		nuclear receptor subfamily 1, group H, member 3							15.0	16.0	16.0					11																	47281462		2198	4294	6492	SO:0001583	missense	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47281462G>T	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.164G>T	11.37:g.47281462G>T	ENSP00000420656:p.Gly55Val		OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	NR1H3_ENST00000405576.1_Missense_Mutation_p.G10V|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Missense_Mutation_p.G10V|NR1H3_ENST00000481889.2_Missense_Mutation_p.G10V|NR1H3_ENST00000405853.3_Missense_Mutation_p.G55V|NR1H3_ENST00000441012.2_Missense_Mutation_p.G55V|NR1H3_ENST00000407404.1_Missense_Mutation_p.G55V	p.G55V			Q13133	NR1H3_HUMAN			2	1402	+			55					A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	ENST00000467728.1	37	c.164G>T	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	G	4.381	0.070352	0.08436	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000436778;ENST00000531660;ENST00000407404;ENST00000444396;ENST00000457932;ENST00000412937;ENST00000449369;ENST00000441012;ENST00000437276;ENST00000436029;ENST00000467728;ENST00000405853	D;D;D;T;T;T;T;T;D;T;T;T;T;T;T	0.92595	-2.81;-3.07;-2.96;0.67;0.83;0.67;0.67;0.67;-2.53;0.67;0.67;0.67;0.67;0.67;0.67	5.56	0.98	0.19750	.	1.458410	0.03739	N	0.254676	D	0.83252	0.5214	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B	0.16396	0.001;0.0;0.017;0.001	B;B;B;B	0.09377	0.001;0.001;0.004;0.001	T	0.69518	-0.5124	10	0.28530	T	0.3	.	1.0685	0.01616	0.2055:0.1805:0.4274:0.1865	.	61;55;10;55	B4DXU5;Q13133;E9PLL4;Q13133-2	.;NR1H3_HUMAN;.;.	V	10;10;10;55;10;55;55;55;10;55;55;55;55;55;55	ENSP00000378793:G10V;ENSP00000385073:G10V;ENSP00000433271:G10V;ENSP00000403798:G55V;ENSP00000434650:G10V;ENSP00000385801:G55V;ENSP00000391005:G55V;ENSP00000413095:G55V;ENSP00000412636:G10V;ENSP00000415591:G55V;ENSP00000387946:G55V;ENSP00000396132:G55V;ENSP00000403696:G55V;ENSP00000420656:G55V;ENSP00000384745:G55V	ENSP00000378793:G10V	G	+	2	0	NR1H3	47238038	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	-0.038000	0.12144	0.677000	0.31305	0.462000	0.41574	GGG		0.657	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			4	31	4	31	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47296695	47296695	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47296695C>A	ENST00000311027.5	+	3	809	c.644C>A	c.(643-645)cCt>cAt	p.P215H	MADD_ENST00000407859.3_Missense_Mutation_p.P215H|MADD_ENST00000349238.3_Missense_Mutation_p.P215H|MADD_ENST00000395344.3_Missense_Mutation_p.P215H|MADD_ENST00000402799.1_Missense_Mutation_p.P215H|MADD_ENST00000406482.1_Missense_Mutation_p.P215H|MADD_ENST00000342922.4_Missense_Mutation_p.P215H|MADD_ENST00000402192.2_Missense_Mutation_p.P215H|MADD_ENST00000395336.3_Missense_Mutation_p.P215H	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGGGCATCCCTCGAGGCGTA	0.498																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(643-645)cCt>cAt		MAP-kinase activating death domain							76.0	78.0	77.0					11																	47296695		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47296695C>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.644C>A	11.37:g.47296695C>A	ENSP00000310933:p.Pro215His					MADD_ENST00000395344.3_Missense_Mutation_p.P215H|MADD_ENST00000395336.3_Missense_Mutation_p.P215H|MADD_ENST00000406482.1_Missense_Mutation_p.P215H|MADD_ENST00000402799.1_Missense_Mutation_p.P215H|MADD_ENST00000407859.3_Missense_Mutation_p.P215H|MADD_ENST00000402192.2_Missense_Mutation_p.P215H|MADD_ENST00000311027.5_Missense_Mutation_p.P215H|MADD_ENST00000349238.3_Missense_Mutation_p.P215H	p.P215H	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	1001	+			215			DENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.644C>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	18.41	3.618928	0.66787	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.05855	3.47;3.38;3.38;3.47;3.48;3.38;3.38;3.48;3.47	5.81	5.81	0.92471	DENN (3);	0.000000	0.85682	D	0.000000	T	0.23572	0.0570	M	0.62723	1.935	0.80722	D	1	D;B;D;B;B;B;B;D;B;B	0.76494	0.971;0.034;0.98;0.168;0.027;0.013;0.05;0.999;0.061;0.171	P;B;D;B;B;B;B;D;B;B	0.66716	0.876;0.063;0.917;0.047;0.029;0.032;0.037;0.946;0.063;0.061	T	0.00029	-1.2292	9	.	.	.	-12.9701	20.0784	0.97758	0.0:1.0:0.0:0.0	.	215;215;215;215;215;215;215;215;215;215	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	H	215	ENSP00000343902:P215H;ENSP00000385585:P215H;ENSP00000384435:P215H;ENSP00000304505:P215H;ENSP00000310933:P215H;ENSP00000384204:P215H;ENSP00000378753:P215H;ENSP00000378745:P215H;ENSP00000384287:P215H	.	P	+	2	0	MADD	47253271	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.294000	0.78760	2.736000	0.93811	0.655000	0.94253	CCT		0.498	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			5	172	5	172	---	---	---	---
MADD	8567	broad.mit.edu	37	11	47299747	47299747	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47299747G>T	ENST00000311027.5	+	6	1292	c.1127G>T	c.(1126-1128)gGg>gTg	p.G376V	MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Missense_Mutation_p.G376V|MADD_ENST00000349238.3_Missense_Mutation_p.G376V|MADD_ENST00000395344.3_Missense_Mutation_p.G376V|MADD_ENST00000402799.1_Missense_Mutation_p.G376V|MADD_ENST00000406482.1_Missense_Mutation_p.G376V|MADD_ENST00000342922.4_Missense_Mutation_p.G376V|MADD_ENST00000402192.2_Missense_Mutation_p.G376V|MADD_ENST00000395336.3_Missense_Mutation_p.G376V	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TACATCATTGGGGTTCCTGCC	0.458																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(1126-1128)gGg>gTg		MAP-kinase activating death domain							247.0	242.0	244.0					11																	47299747		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47299747G>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1127G>T	11.37:g.47299747G>T	ENSP00000310933:p.Gly376Val					MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.G376V|MADD_ENST00000395336.3_Missense_Mutation_p.G376V|MADD_ENST00000406482.1_Missense_Mutation_p.G376V|MADD_ENST00000402799.1_Missense_Mutation_p.G376V|MADD_ENST00000407859.3_Missense_Mutation_p.G376V|MADD_ENST00000402192.2_Missense_Mutation_p.G376V|MADD_ENST00000311027.5_Missense_Mutation_p.G376V|MADD_ENST00000349238.3_Missense_Mutation_p.G376V	p.G376V	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	6	1484	+			376			DENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.1127G>T	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	34	5.298814	0.95574	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000428807;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	5.71	5.71	0.89125	DENN (3);	0.000000	0.85682	D	0.000000	D	0.88127	0.6353	H	0.95114	3.625	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.90978	0.4825	10	0.87932	D	0	-19.9701	19.8677	0.96824	0.0:0.0:1.0:0.0	.	376;376;376;376;376;376;376;376;376;376	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	V	376;376;154;376;376;376;376;376;376;376;376	ENSP00000343902:G376V;ENSP00000398167:G154V;ENSP00000385585:G376V;ENSP00000384435:G376V;ENSP00000304505:G376V;ENSP00000310933:G376V;ENSP00000384204:G376V;ENSP00000378753:G376V;ENSP00000378745:G376V;ENSP00000384287:G376V	ENSP00000310933:G376V	G	+	2	0	MADD	47256323	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.709000	0.92574	0.655000	0.94253	GGG		0.458	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			8	502	8	502	---	---	---	---
CELF1	10658	broad.mit.edu	37	11	47508712	47508712	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:47508712C>A	ENST00000358597.3	-	2	259	c.260G>T	c.(259-261)gGg>gTg	p.G87V	CELF1_ENST00000310513.5_Splice_Site_p.G87V|CELF1_ENST00000361904.3_Splice_Site_p.G87V|CELF1_ENST00000395292.2_Splice_Site_p.G87V|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000395290.2_Splice_Site_p.G87V|CELF1_ENST00000531165.1_Splice_Site_p.G114V|CELF1_ENST00000532048.1_Splice_Site_p.G114V			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	87	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CTTTCTTACCCCTGGGAGGAC	0.388																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(259-261)gGg>gTg		CUGBP, Elav-like family member 1							103.0	107.0	106.0					11																	47508712		2201	4298	6499	SO:0001630	splice_region_variant	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47508712C>A	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.261+1G>T	11.37:g.47508712C>A						CELF1_ENST00000358597.3_Splice_Site_p.G87V|CELF1_ENST00000531165.1_Splice_Site_p.G114V|CELF1_ENST00000532048.1_Splice_Site_p.G114V|CELF1_ENST00000395292.2_Splice_Site_p.G87V|CELF1_ENST00000310513.5_Splice_Site_p.G87V|CELF1_ENST00000361904.3_Splice_Site_p.G87V	p.G87V	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			2	269	-			87			RRM 1.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Splice_Site	SNP	ENST00000358597.3	37	c.260G>T	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241678	0.95272	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048;ENST00000530151;ENST00000528434;ENST00000525841	T;T;T;T;T;T;T;T;T;T	0.58210	1.62;1.64;2.05;2.07;2.05;1.6;1.58;2.44;0.35;0.96	6.04	6.04	0.98038	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;0.998;0.998;0.998;0.999	T	0.83259	-0.0049	10	0.87932	D	0	-6.3608	20.5948	0.99439	0.0:1.0:0.0:0.0	.	87;114;114;87;87;87	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	V	87;87;87;87;87;114;114;87;114;87	ENSP00000378705:G87V;ENSP00000351409:G87V;ENSP00000378706:G87V;ENSP00000308386:G87V;ENSP00000354639:G87V;ENSP00000436864:G114V;ENSP00000435926:G114V;ENSP00000433986:G87V;ENSP00000435320:G114V;ENSP00000436191:G87V	ENSP00000308386:G87V	G	-	2	0	CELF1	47465288	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.666000	0.83877	2.873000	0.98535	0.563000	0.77884	GGG		0.388	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560	Missense_Mutation	6	305	6	305	---	---	---	---
OR4C12	283093	broad.mit.edu	37	11	50003461	50003461	+	Missense_Mutation	SNP	G	G	T	rs377698711		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:50003461G>T	ENST00000335238.4	-	1	610	c.577C>A	c.(577-579)Ctt>Att	p.L193I		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						AAGAGACCAAGGGTATGAGTG	0.408																																						ENST00000335238.4																			0				NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(577-579)Ctt>Att		olfactory receptor, family 4, subfamily C, member 12		G	ILE/LEU	1,4401		0,1,2200	101.0	101.0	101.0		577	3.0	0.9	11		101	0,8592		0,0,4296	no	missense	OR4C12	NM_001005270.2	5	0,1,6496	TT,TG,GG		0.0,0.0227,0.0077	possibly-damaging	193/310	50003461	1,12993	2201	4296	6497	SO:0001583	missense	283093				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:50003461G>T	BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.577C>A	11.37:g.50003461G>T	ENSP00000334418:p.Leu193Ile						p.L193I	NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN			1	610	-			193					B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	c.577C>A	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	9.252	1.040937	0.19669	2.27E-4	0.0	ENSG00000221954	ENST00000335238	T	0.00107	8.72	2.98	2.98	0.34508	GPCR, rhodopsin-like superfamily (1);	0.202088	0.24085	U	0.041697	T	0.00109	0.0003	N	0.04705	-0.18	0.24790	N	0.992768	P	0.51147	0.942	P	0.55161	0.77	T	0.51012	-0.8759	10	0.02654	T	1	.	8.2721	0.31851	0.0:0.2467:0.7533:0.0	.	193	Q96R67	OR4CC_HUMAN	I	193	ENSP00000334418:L193I	ENSP00000334418:L193I	L	-	1	0	OR4C12	49960037	0.000000	0.05858	0.930000	0.37139	0.639000	0.38242	-0.150000	0.10189	1.698000	0.51180	0.398000	0.26397	CTT		0.408	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270		5	151	5	151	---	---	---	---
OR5T3	390154	broad.mit.edu	37	11	56020461	56020461	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:56020461G>T	ENST00000303059.3	+	1	786	c.786G>T	c.(784-786)aaG>aaT	p.K262N		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K262N(1)		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)					ATTCTGCTAAGGGAAGGCAAA	0.413																																						ENST00000303059.3																			1	Substitution - Missense(1)	p.K262N(1)	lung(1)	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						c.(784-786)aaG>aaT		olfactory receptor, family 5, subfamily T, member 3							224.0	203.0	210.0					11																	56020461		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020461G>T	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.786G>T	11.37:g.56020461G>T	ENSP00000305403:p.Lys262Asn						p.K262N	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	786	+	Esophageal squamous(21;0.00448)		262					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.786G>T	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	G	5.637	0.302139	0.10678	.	.	ENSG00000172489	ENST00000303059	T	0.00145	8.67	4.65	0.997	0.19851	GPCR, rhodopsin-like superfamily (1);	0.290027	0.24285	N	0.039874	T	0.00144	0.0004	L	0.49126	1.545	0.09310	N	1	B	0.26512	0.151	B	0.35770	0.21	T	0.33701	-0.9858	10	0.87932	D	0	.	4.6293	0.12493	0.408:0.0:0.4288:0.1632	.	262	Q8NGG3	OR5T3_HUMAN	N	262	ENSP00000305403:K262N	ENSP00000305403:K262N	K	+	3	2	OR5T3	55777037	0.000000	0.05858	0.620000	0.29132	0.009000	0.06853	-0.617000	0.05584	0.061000	0.16311	-0.323000	0.08544	AAG		0.413	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		8	470	8	470	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57077242	57077242	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:57077242G>T	ENST00000532437.1	-	5	3254	c.2943C>A	c.(2941-2943)ccC>ccA	p.P981P	TNKS1BP1_ENST00000358252.3_Silent_p.P981P|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	981	Acidic.				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)				CAGAGCTCAGGGGTCTCGTTC	0.567																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2941-2943)ccC>ccA		tankyrase 1 binding protein 1, 182kDa							75.0	79.0	77.0					11																	57077242		2201	4296	6497	SO:0001819	synonymous_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077242G>T	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.2943C>A	11.37:g.57077242G>T						TNKS1BP1_ENST00000358252.3_Silent_p.P981P	p.P981P			Q9C0C2	TB182_HUMAN			5	3254	-		all_epithelial(135;0.21)	981			Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	ENST00000532437.1	37	c.2943C>A	CCDS7951.1																																																																																				0.567	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		8	167	8	167	---	---	---	---
OR5A1	219982	broad.mit.edu	37	11	59211048	59211048	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:59211048C>A	ENST00000302030.2	+	1	432	c.407C>A	c.(406-408)cCc>cAc	p.P136H		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTTCTCTACCCCACTATCATG	0.542																																						ENST00000302030.2																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(406-408)cCc>cAc		olfactory receptor, family 5, subfamily A, member 1							263.0	245.0	251.0					11																	59211048		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211048C>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.407C>A	11.37:g.59211048C>A	ENSP00000303096:p.Pro136His						p.P136H	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	432	+			136					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.407C>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	9.078	0.998611	0.19121	.	.	ENSG00000172320	ENST00000302030	T	0.02345	4.33	5.98	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.764123	0.11524	N	0.555377	T	0.03263	0.0095	L	0.28504	0.86	0.09310	N	1	B	0.26081	0.141	B	0.29942	0.109	T	0.44205	-0.9343	10	0.66056	D	0.02	-2.2447	7.4588	0.27283	0.0:0.7155:0.1381:0.1464	.	136	Q8NGJ0	OR5A1_HUMAN	H	136	ENSP00000303096:P136H	ENSP00000303096:P136H	P	+	2	0	OR5A1	58967624	0.000000	0.05858	0.107000	0.21349	0.522000	0.34438	-0.400000	0.07241	0.812000	0.34326	0.650000	0.86243	CCC		0.542	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		11	505	11	505	---	---	---	---
PPP1R32	220004	broad.mit.edu	37	11	61254627	61254627	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:61254627G>T	ENST00000338608.2	+	11	1083	c.958G>T	c.(958-960)Ggg>Tgg	p.G320W	PPP1R32_ENST00000432063.2_Missense_Mutation_p.G300W|PPP1R32_ENST00000366212.4_5'Flank|PPP1R32_ENST00000538185.1_5'Flank	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	320							phosphatase binding (GO:0019902)	p.G320R(1)									GGAGCCCACAGGGTTCAGCCT	0.562																																						ENST00000338608.2																			1	Substitution - Missense(1)	p.G320R(1)	ovary(1)								c.(958-960)Ggg>Tgg		protein phosphatase 1, regulatory subunit 32							178.0	176.0	177.0					11																	61254627		2202	4299	6501	SO:0001583	missense	220004							g.chr11:61254627G>T	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.958G>T	11.37:g.61254627G>T	ENSP00000344140:p.Gly320Trp					PPP1R32_ENST00000432063.2_Missense_Mutation_p.G300W	p.G320W	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN			11	1083	+			320					Q4G0P4|Q96M77	Missense_Mutation	SNP	ENST00000338608.2	37	c.958G>T	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098228	0.56183	.	.	ENSG00000162148	ENST00000432063;ENST00000338608;ENST00000542951;ENST00000535545	T;T;T;T	0.67865	-0.29;0.17;0.54;0.49	4.69	4.69	0.59074	.	0.177207	0.37261	N	0.002169	T	0.82001	0.4942	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.992	D	0.84923	0.0855	10	0.87932	D	0	-9.5621	14.9191	0.70822	0.0:0.0:1.0:0.0	.	300;320	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	W	300;320;71;87	ENSP00000391560:G300W;ENSP00000344140:G320W;ENSP00000441053:G71W;ENSP00000437511:G87W	ENSP00000344140:G320W	G	+	1	0	C11orf66	61011203	1.000000	0.71417	0.997000	0.53966	0.591000	0.36615	4.783000	0.62403	2.311000	0.77944	0.609000	0.83330	GGG		0.562	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1	NM_145017		6	354	6	354	---	---	---	---
BEST1	7439	broad.mit.edu	37	11	61730039	61730039	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:61730039C>A	ENST00000378043.4	+	10	2056	c.1413C>A	c.(1411-1413)ccC>ccA	p.P471P	BEST1_ENST00000378042.3_Silent_p.P384P|BEST1_ENST00000449131.2_Silent_p.P411P|BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000301774.9_Silent_p.P99P|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	471					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CACAGACGCCCCTCAGCCCCA	0.552																																						ENST00000449131.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(1231-1233)ccC>ccA		bestrophin 1							80.0	77.0	78.0					11																	61730039		2202	4299	6501	SO:0001819	synonymous_variant	7439				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	g.chr11:61730039C>A	AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.1413C>A	11.37:g.61730039C>A						BEST1_ENST00000378042.3_Silent_p.P384P|FTH1_ENST00000529191.1_Intron|BEST1_ENST00000534553.1_3'UTR|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000378043.4_Silent_p.P471P|BEST1_ENST00000301774.9_Silent_p.P99P	p.P411P	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN			9	1319	+			471					A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Silent	SNP	ENST00000378043.4	37	c.1233C>A	CCDS31580.1																																																																																				0.552	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394715.1	NM_004183		5	84	5	84	---	---	---	---
SCGB2A2	4250	broad.mit.edu	37	11	62038408	62038408	+	Silent	SNP	G	G	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62038408G>C	ENST00000227918.2	+	2	173	c.111G>C	c.(109-111)gtG>gtC	p.V37V	SCGB2A2_ENST00000525380.1_Silent_p.V37V	NM_002411.2	NP_002402.1	Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	37								p.V37V(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						ATCCACAAGTGTCTAAGACTG	0.418																																						ENST00000525380.1																			1	Substitution - coding silent(1)	p.V37V(1)	prostate(1)	large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						c.(109-111)gtG>gtC		secretoglobin, family 2A, member 2							107.0	98.0	101.0					11																	62038408		2202	4299	6501	SO:0001819	synonymous_variant	4250					extracellular region	steroid binding	g.chr11:62038408G>C	AF015224	CCDS8018.1	11q13	2011-12-14	2002-03-22	2002-03-22	ENSG00000110484	ENSG00000110484		"""Secretoglobins"""	7050	protein-coding gene	gene with protein product	"""mammaglobin A"""	605562	"""mammaglobin 1"""	MGB1		9488047, 8631025, 22155607	Standard	XM_005274005		Approved	UGB2, MGC71974	uc001ntc.3	Q13296	OTTHUMG00000167509	ENST00000227918.2:c.111G>C	11.37:g.62038408G>C						SCGB2A2_ENST00000227918.2_Silent_p.V37V	p.V37V			Q13296	SG2A2_HUMAN			2	170	+			37					A1A522|Q86WH8	Silent	SNP	ENST00000227918.2	37	c.111G>C	CCDS8018.1																																																																																				0.418	SCGB2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394860.1	NM_002411		55	128	55	128	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62287590	62287590	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62287590G>T	ENST00000378024.4	-	5	14573	c.14299C>A	c.(14299-14301)Cct>Act	p.P4767T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000525875.1_5'Flank	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4767					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATCAGGGGTGTTGATG	0.517																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(14299-14301)Cct>Act		AHNAK nucleoprotein							198.0	191.0	193.0					11																	62287590		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62287590G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14299C>A	11.37:g.62287590G>T	ENSP00000367263:p.Pro4767Thr					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P4767T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	14573	-		Melanoma(852;0.155)	4767					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.14299C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118787	0.20877	.	.	ENSG00000124942	ENST00000378024	T	0.03181	4.02	4.79	4.79	0.61399	.	0.000000	0.48286	D	0.000193	T	0.29652	0.0740	H	0.96861	3.895	0.33146	D	0.545079	D	0.89917	1.0	D	0.91635	0.999	T	0.60151	-0.7319	10	0.38643	T	0.18	-0.6609	16.6222	0.84933	0.0:0.0:1.0:0.0	.	4767	Q09666	AHNK_HUMAN	T	4767	ENSP00000367263:P4767T	ENSP00000367263:P4767T	P	-	1	0	AHNAK	62044166	.	.	0.859000	0.33776	0.022000	0.10575	.	.	2.206000	0.71126	0.478000	0.44815	CCT		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	335	7	335	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62292624	62292624	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62292624G>T	ENST00000378024.4	-	5	9539	c.9265C>A	c.(9265-9267)Ccc>Acc	p.P3089T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3089					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGATCTTGGGGGCTTTGATG	0.458																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(9265-9267)Ccc>Acc		AHNAK nucleoprotein							203.0	215.0	211.0					11																	62292624		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62292624G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.9265C>A	11.37:g.62292624G>T	ENSP00000367263:p.Pro3089Thr					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P3089T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	9539	-		Melanoma(852;0.155)	3089					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.9265C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	14.79	2.640419	0.47153	.	.	ENSG00000124942	ENST00000378024	T	0.04706	3.57	4.48	4.48	0.54585	.	.	.	.	.	T	0.30262	0.0759	H	0.94771	3.58	0.35594	D	0.807299	D	0.89917	1.0	D	0.85130	0.997	T	0.56294	-0.8003	9	0.45353	T	0.12	-3.859	14.9206	0.70835	0.0:0.0:1.0:0.0	.	3089	Q09666	AHNK_HUMAN	T	3089	ENSP00000367263:P3089T	ENSP00000367263:P3089T	P	-	1	0	AHNAK	62049200	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	4.808000	0.62583	2.021000	0.59480	0.305000	0.20034	CCC		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		12	543	12	543	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62294419	62294419	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62294419C>A	ENST00000378024.4	-	5	7744	c.7470G>T	c.(7468-7470)agG>agT	p.R2490S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2490					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTGGGGCCCCTGATGTTCA	0.478																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7468-7470)agG>agT		AHNAK nucleoprotein							149.0	153.0	152.0					11																	62294419		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294419C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7470G>T	11.37:g.62294419C>A	ENSP00000367263:p.Arg2490Ser					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.R2490S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7744	-		Melanoma(852;0.155)	2490					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7470G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	c	0.024	-1.390292	0.01185	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.05139	3.49	4.36	-4.32	0.03688	.	.	.	.	.	T	0.03053	0.0090	N	0.04063	-0.285	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44081	-0.9351	9	0.72032	D	0.01	.	10.1596	0.42844	0.0:0.2432:0.1065:0.6503	.	2490	Q09666	AHNK_HUMAN	S	579;2490	ENSP00000367263:R2490S	ENSP00000244934:R579S	R	-	3	2	AHNAK	62050995	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-4.631000	0.00206	-1.026000	0.03330	-0.309000	0.09137	AGG		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		6	300	6	300	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62294886	62294886	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62294886G>T	ENST00000378024.4	-	5	7277	c.7003C>A	c.(7003-7005)Cca>Aca	p.P2335T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2335					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCAGCTTTGGGGCAGAAACA	0.458																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(7003-7005)Cca>Aca		AHNAK nucleoprotein							122.0	135.0	130.0					11																	62294886		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62294886G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.7003C>A	11.37:g.62294886G>T	ENSP00000367263:p.Pro2335Thr					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2335T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	7277	-		Melanoma(852;0.155)	2335					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.7003C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901142	0.52227	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.27890	1.64	3.73	2.81	0.32909	.	0.000000	0.40640	N	0.001058	T	0.64983	0.2648	H	0.96547	3.84	0.39959	D	0.97463	D	0.89917	1.0	D	0.85130	0.997	T	0.73962	-0.3817	10	0.72032	D	0.01	-6.8299	10.8489	0.46759	0.0961:0.0:0.9039:0.0	.	2335	Q09666	AHNK_HUMAN	T	424;2335	ENSP00000367263:P2335T	ENSP00000244934:P424T	P	-	1	0	AHNAK	62051462	0.997000	0.39634	0.004000	0.12327	0.890000	0.51754	3.640000	0.54350	0.690000	0.31570	0.291000	0.19559	CCA		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	476	8	476	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62295786	62295786	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62295786G>T	ENST00000378024.4	-	5	6377	c.6103C>A	c.(6103-6105)Cca>Aca	p.P2035T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2035					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATCTGGGGCATCAATG	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6103-6105)Cca>Aca		AHNAK nucleoprotein							321.0	318.0	319.0					11																	62295786		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295786G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6103C>A	11.37:g.62295786G>T	ENSP00000367263:p.Pro2035Thr					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2035T	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6377	-		Melanoma(852;0.155)	2035					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6103C>A	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833030	0.32421	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.02863	4.13	3.9	3.9	0.45041	.	0.000000	0.34531	U	0.003899	T	0.26048	0.0635	H	0.97874	4.095	0.31252	N	0.693959	D	0.71674	0.998	D	0.68943	0.961	T	0.57985	-0.7716	10	0.66056	D	0.02	.	15.5123	0.75793	0.0:0.0:1.0:0.0	.	2035	Q09666	AHNK_HUMAN	T	124;2035	ENSP00000367263:P2035T	ENSP00000244934:P124T	P	-	1	0	AHNAK	62052362	1.000000	0.71417	0.688000	0.30117	0.428000	0.31595	7.052000	0.76634	1.723000	0.51488	0.298000	0.19748	CCA		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		10	682	10	682	---	---	---	---
EML3	256364	broad.mit.edu	37	11	62375763	62375763	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62375763C>A	ENST00000394773.2	-	10	1423	c.1116G>T	c.(1114-1116)caG>caT	p.Q372H	RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000529309.1_Missense_Mutation_p.Q372H|EML3_ENST00000531557.1_Missense_Mutation_p.Q155H|EML3_ENST00000438258.1_5'Flank|EML3_ENST00000494176.2_Missense_Mutation_p.Q344H|EML3_ENST00000278845.4_Missense_Mutation_p.Q373H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	372						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.Q372H(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAAAGGCACCCTGATCCTGAA	0.532																																						ENST00000394773.2																			1	Substitution - Missense(1)	p.Q372H(1)	lung(1)	biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1114-1116)caG>caT		echinoderm microtubule associated protein like 3							175.0	164.0	167.0					11																	62375763		2202	4299	6501	SO:0001583	missense	256364					cytoplasm|microtubule	protein binding	g.chr11:62375763C>A	AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.1116G>T	11.37:g.62375763C>A	ENSP00000378254:p.Gln372His					EML3_ENST00000529309.1_Missense_Mutation_p.Q372H|EML3_ENST00000494176.2_Missense_Mutation_p.Q344H|EML3_ENST00000531557.1_Missense_Mutation_p.Q155H|EML3_ENST00000278845.4_Missense_Mutation_p.Q373H	p.Q372H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN			10	1423	-			372					Q6ZQW7|Q8NA55	Missense_Mutation	SNP	ENST00000394773.2	37	c.1116G>T	CCDS8023.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.11|12.11	1.838659|1.838659	0.32513|0.32513	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	.|T;T;T;T;T	.|0.42513	.|1.03;1.03;0.97;0.97;0.97	6.04|6.04	-0.465|-0.465	0.12157|0.12157	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.386434	.|0.28042	.|N	.|0.016822	T|T	0.17662|0.17662	0.0424|0.0424	N|N	0.11427|0.11427	0.14|0.14	0.32361|0.32361	N|N	0.557201|0.557201	.|B;B;B;B;B	.|0.15141	.|0.012;0.002;0.0;0.003;0.001	.|B;B;B;B;B	.|0.15052	.|0.012;0.003;0.0;0.001;0.005	T|T	0.03933|0.03933	-1.0991|-1.0991	5|10	.|0.66056	.|D	.|0.02	-12.4761|-12.4761	1.5887|1.5887	0.02650|0.02650	0.1357:0.3335:0.1325:0.3983|0.1357:0.3335:0.1325:0.3983	.|.	.|372;372;155;373;344	.|Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.|.;EMAL3_HUMAN;.;.;.	W|H	367|372;373;155;344;372	.|ENSP00000378254:Q372H;ENSP00000278845:Q373H;ENSP00000433417:Q155H;ENSP00000435064:Q344H;ENSP00000434513:Q372H	.|ENSP00000278845:Q373H	G|Q	-|-	1|3	0|2	EML3|EML3	62132339|62132339	0.001000|0.001000	0.12720|0.12720	0.995000|0.995000	0.50966|0.50966	0.870000|0.870000	0.49936|0.49936	-0.492000|-0.492000	0.06467|0.06467	-0.053000|-0.053000	0.13289|0.13289	0.563000|0.563000	0.77884|0.77884	GGG|CAG		0.532	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313432.1	NM_153265		6	259	6	259	---	---	---	---
RARRES3	5920	broad.mit.edu	37	11	63312350	63312350	+	Missense_Mutation	SNP	C	C	A	rs201927922		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:63312350C>A	ENST00000255688.3	+	3	424	c.376C>A	c.(376-378)Cgc>Agc	p.R126S	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000439013.2_Missense_Mutation_p.R126S|RARRES3_ENST00000354445.2_Missense_Mutation_p.R126S	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	126					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)	p.R126S(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TGGCAAGTCCCGCTGTAAACA	0.517																																						ENST00000439013.2																			1	Substitution - Missense(1)	p.R126S(1)	lung(1)	kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(376-378)Cgc>Agc		retinoic acid receptor responder (tazarotene induced) 3							156.0	154.0	155.0					11																	63312350		2043	4201	6244	SO:0001583	missense	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63312350C>A		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.376C>A	11.37:g.63312350C>A	ENSP00000255688:p.Arg126Ser					RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Missense_Mutation_p.R126S|RARRES3_ENST00000255688.3_Missense_Mutation_p.R126S	p.R126S			Q9UL19	TIG3_HUMAN			3	429	+			126					B2R599|B4DDW2|E7ENZ7|O95200	Missense_Mutation	SNP	ENST00000255688.3	37	c.376C>A	CCDS41662.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693568	0.30052	.	.	ENSG00000133321	ENST00000439013;ENST00000255688;ENST00000354445	T;T;T	0.31247	1.51;1.5;1.52	3.93	-7.86	0.01187	NC (1);	1.493990	0.04128	N	0.317519	T	0.23014	0.0556	L	0.57536	1.79	0.09310	N	1	B	0.32010	0.351	B	0.29785	0.107	T	0.07385	-1.0775	10	0.52906	T	0.07	.	1.5969	0.02666	0.4609:0.1047:0.1628:0.2716	.	126	Q9UL19	TIG3_HUMAN	S	126	ENSP00000402943:R126S;ENSP00000255688:R126S;ENSP00000346431:R126S	ENSP00000255688:R126S	R	+	1	0	RARRES3	63068926	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.975000	0.00164	-3.236000	0.00208	-0.882000	0.02950	CGC		0.517	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			5	287	5	287	---	---	---	---
PLA2G16	11145	broad.mit.edu	37	11	63381507	63381507	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:63381507C>A	ENST00000323646.5	-	0	334				PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_De_novo_Start_OutOfFrame|RP11-697H9.3_ENST00000542805.1_RNA	NM_007069.3	NP_009000.2	P53816	HRSL3_HUMAN	phospholipase A2, group XVI						glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|negative regulation of cell cycle (GO:0045786)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	1-acyl-2-lysophosphatidylserine acylhydrolase activity (GO:0052740)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phosphatidylserine 1-acylhydrolase activity (GO:0052739)|phospholipase A2 activity (GO:0004623)			kidney(2)|lung(1)|ovary(1)|skin(1)	5						GGTGTGGACCCTCAAGGCCAG	0.627																																						ENST00000323646.5																			0				kidney(2)|lung(1)|ovary(1)|skin(1)	5								phospholipase A2, group XVI							57.0	56.0	56.0					11																	63381507		2201	4298	6499			11145				lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding	g.chr11:63381507C>A	X92814	CCDS8047.1	11q12.3	2014-03-14	2008-09-19	2008-09-19	ENSG00000176485	ENSG00000176485	3.1.1.4		17825	protein-coding gene	gene with protein product	"""adipose-specific PLA2"""	613867	"""HRAS-like suppressor 3"""	HRASLS3		9771974, 18614531	Standard	NM_007069		Approved	HREV107, H-REV107-1, HREV107-3, MGC118754., AdPLA	uc009you.1	P53816	OTTHUMG00000167852	ENST00000323646.5:c.-21G>T	11.37:g.63381507C>A						PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_De_novo_Start_OutOfFrame		NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN			0	334	-								B2R7Q4|B7XAK5|Q3SYI3|Q9HDD1	Translation_Start_Site	SNP	ENST00000323646.5	37		CCDS8047.1																																																																																				0.627	PLA2G16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396632.1	NM_001128203		5	119	5	119	---	---	---	---
BAD	572	broad.mit.edu	37	11	64037705	64037705	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64037705C>A	ENST00000394532.3	-	3	753	c.483G>T	c.(481-483)agG>agT	p.R161S	BAD_ENST00000309032.3_Missense_Mutation_p.R161S|BAD_ENST00000544785.1_Missense_Mutation_p.G98W	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	161					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ADP metabolic process (GO:0046031)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|ATP metabolic process (GO:0046034)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to chromate (GO:0071247)|cellular response to hypoxia (GO:0071456)|cellular response to lipid (GO:0071396)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose catabolic process (GO:0006007)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|pore complex assembly (GO:0046931)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of autophagy (GO:0010508)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane potential (GO:0010918)|positive regulation of neuron death (GO:1901216)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of mitochondrial membrane permeability (GO:0046902)|release of cytochrome c from mitochondria (GO:0001836)|response to amino acid (GO:0043200)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to oleic acid (GO:0034201)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|suppression by virus of host apoptotic process (GO:0019050)|type B pancreatic cell proliferation (GO:0044342)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|lipid binding (GO:0008289)|phospholipid binding (GO:0005543)|protein kinase binding (GO:0019901)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						CGGAGCTTCCCCTGCCCAAGT	0.627																																						ENST00000394532.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(481-483)agG>agT		BCL2-associated agonist of cell death							81.0	71.0	74.0					11																	64037705		2201	4297	6498	SO:0001583	missense	572				activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding	g.chr11:64037705C>A	AF021792	CCDS8065.1	11q13.1	2014-03-07	2008-08-19		ENSG00000002330	ENSG00000002330			936	protein-coding gene	gene with protein product		603167				8929532	Standard	NM_004322		Approved	BCL2L8, BBC2	uc001nzd.3	Q92934	OTTHUMG00000134302	ENST00000394532.3:c.483G>T	11.37:g.64037705C>A	ENSP00000378040:p.Arg161Ser					BAD_ENST00000309032.3_Missense_Mutation_p.R161S|BAD_ENST00000544785.1_Missense_Mutation_p.G98W	p.R161S	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN			3	753	-			161					O14803|Q6FH21	Missense_Mutation	SNP	ENST00000394532.3	37	c.483G>T	CCDS8065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.58|15.58	2.874981|2.874981	0.51695|0.51695	.|.	.|.	ENSG00000002330|ENSG00000002330	ENST00000544785|ENST00000394532;ENST00000309032	.|T;T	.|0.45668	.|0.89;0.89	4.97|4.97	1.39|1.39	0.22231|0.22231	.|.	.|0.388571	.|0.29266	.|N	.|0.012647	T|T	0.36193|0.36193	0.0958|0.0958	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|P	.|0.37914	.|0.611	.|B	.|0.38378	.|0.272	T|T	0.10917|0.10917	-1.0609|-1.0609	6|10	0.87932|0.62326	D|D	0|0.03	-2.9686|-2.9686	6.9916|6.9916	0.24758|0.24758	0.0:0.2245:0.0:0.7755|0.0:0.2245:0.0:0.7755	.|.	.|161	.|Q92934	.|BAD_HUMAN	W|S	98|161	.|ENSP00000378040:R161S;ENSP00000309103:R161S	ENSP00000440575:G98W|ENSP00000309103:R161S	G|R	-|-	1|3	0|2	BAD|BAD	63794281|63794281	0.108000|0.108000	0.22018|0.22018	0.874000|0.874000	0.34290|0.34290	0.739000|0.739000	0.42172|0.42172	0.216000|0.216000	0.17585|0.17585	0.073000|0.073000	0.16731|0.16731	-0.136000|-0.136000	0.14681|0.14681	GGG|AGG		0.627	BAD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259180.2	NM_032989		5	74	5	74	---	---	---	---
GPR137	56834	broad.mit.edu	37	11	64055537	64055537	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64055537G>T	ENST00000313074.3	+	4	739	c.634G>T	c.(634-636)Ggg>Tgg	p.G212W	GPR137_ENST00000539851.1_Splice_Site_p.G212W|GPR137_ENST00000411458.1_Splice_Site_p.G270W|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000438980.2_Splice_Site_p.G212W	NM_020155.3	NP_064540.3	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	212						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTGTGCCAGGGGACCAGTGT	0.642																																						ENST00000539851.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						c.(634-636)Ggg>Tgg		G protein-coupled receptor 137							45.0	51.0	49.0					11																	64055537		2198	4296	6494	SO:0001630	splice_region_variant	56834					integral to membrane		g.chr11:64055537G>T	AJ250392	CCDS8066.1, CCDS53655.1, CCDS53656.1, CCDS53657.1, CCDS53658.1	11q13.1	2014-02-12	2006-01-26		ENSG00000173264	ENSG00000173264		"""GPCR / Unclassified : 7TM orphan receptors"""	24300	protein-coding gene	gene with protein product						10873569, 12732197	Standard	NM_001170726		Approved	C11orf4, GPR137A, TM7SF1L1	uc010rni.2	Q96N19	OTTHUMG00000167817	ENST00000313074.3:c.634-1G>T	11.37:g.64055537G>T						GPR137_ENST00000313074.3_Splice_Site_p.G212W|GPR137_ENST00000411458.1_Splice_Site_p.G270W|GPR137_ENST00000377702.4_Intron|GPR137_ENST00000438980.2_Splice_Site_p.G212W	p.G212W	NM_001177358.1	NP_001170829.1	Q96N19	G137A_HUMAN			5	1101	+			212					B4DTG7|B7Z7M1|Q4G0Y9|Q8N4K6	Splice_Site	SNP	ENST00000313074.3	37	c.634G>T	CCDS8066.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835696	0.71373	.	.	ENSG00000173264	ENST00000546139;ENST00000411458;ENST00000539851;ENST00000539833;ENST00000543383;ENST00000438980;ENST00000313074;ENST00000541952	T;T;T;T;T	0.54866	0.55;0.65;0.65;0.6;0.57	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.64450	0.2599	L	0.48362	1.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.984;1.0	T	0.62676	-0.6804	9	.	.	.	-22.2991	13.5182	0.61553	0.0:0.0:1.0:0.0	.	212;270;218;212;212	B7Z7M1;B4DTG7;F5H234;Q96N19-2;Q96N19	.;.;.;.;G137A_HUMAN	W	218;270;212;212;212;212;212;149	ENSP00000411827:G270W;ENSP00000442792:G212W;ENSP00000441003:G212W;ENSP00000415698:G212W;ENSP00000321698:G212W	.	G	+	1	0	GPR137	63812113	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.207000	0.95064	2.329000	0.79093	0.561000	0.74099	GGG		0.642	GPR137-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396412.1	NM_020155	Missense_Mutation	5	112	5	112	---	---	---	---
NRXN2	9379	broad.mit.edu	37	11	64427831	64427831	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64427831C>A	ENST00000377551.1	-	10	2573	c.2362G>T	c.(2362-2364)Ggg>Tgg	p.G788W	NRXN2_ENST00000496291.1_5'Flank|NRXN2_ENST00000409571.1_Missense_Mutation_p.G781W|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.G757W|NRXN2_ENST00000265459.6_Missense_Mutation_p.G788W			Q9P2S2	NRX2A_HUMAN	neurexin 2	788	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTCATCTGCCCCCCATCCAGC	0.617																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(2362-2364)Ggg>Tgg		neurexin 2							155.0	137.0	143.0					11																	64427831		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64427831C>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2362G>T	11.37:g.64427831C>A	ENSP00000366774:p.Gly788Trp					NRXN2_ENST00000377559.3_Missense_Mutation_p.G757W|NRXN2_ENST00000377551.1_Missense_Mutation_p.G788W|NRXN2_ENST00000409571.1_Missense_Mutation_p.G781W	p.G788W	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			11	2823	-			788			Laminin G-like 4.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2362G>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.543808	0.86022	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	4.28	4.28	0.50868	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.40385	U	0.001106	D	0.95082	0.8407	M	0.90198	3.095	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	0.95916	0.8927	10	0.87932	D	0	.	14.2418	0.65961	0.0:1.0:0.0:0.0	.	757;788;534	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	W	788;757;788;757;781	ENSP00000366774:G788W;ENSP00000366782:G757W;ENSP00000265459:G788W;ENSP00000386416:G781W	ENSP00000265459:G788W	G	-	1	0	NRXN2	64184407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	2.216000	0.71823	0.655000	0.94253	GGG		0.617	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		5	115	5	115	---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64525943	64525943	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64525943C>A	ENST00000164139.3	-	3	788	c.390G>T	c.(388-390)gcG>gcT	p.A130A	PYGM_ENST00000377432.3_Intron	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	130					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCCCAGCCCCGCATCCTCCT	0.652																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(388-390)gcG>gcT		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						70.0	84.0	79.0					11																	64525943		2201	4297	6498	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64525943C>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.390G>T	11.37:g.64525943C>A						PYGM_ENST00000377432.3_Intron	p.A130A	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			3	788	-			130					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.390G>T	CCDS8079.1																																																																																				0.652	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		5	163	5	163	---	---	---	---
SF1	7536	broad.mit.edu	37	11	64537846	64537846	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64537846C>A	ENST00000377390.3	-	4	608	c.271G>T	c.(271-273)Ggg>Tgg	p.G91W	SF1_ENST00000377394.3_Missense_Mutation_p.G91W|SF1_ENST00000433274.2_Missense_Mutation_p.G65W|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000334944.5_Missense_Mutation_p.G91W|SF1_ENST00000227503.9_Missense_Mutation_p.G91W|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.G216W	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	91					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						AGCCGCTTCCCCTCGCTATTG	0.532																																						ENST00000377390.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						c.(271-273)Ggg>Tgg		splicing factor 1							98.0	99.0	99.0					11																	64537846		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64537846C>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.271G>T	11.37:g.64537846C>A	ENSP00000366607:p.Gly91Trp					SF1_ENST00000377394.3_Missense_Mutation_p.G91W|SF1_ENST00000377387.1_Missense_Mutation_p.G216W|SF1_ENST00000227503.9_Missense_Mutation_p.G91W|SF1_ENST00000433274.2_Missense_Mutation_p.G65W|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.G91W	p.G91W	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN			4	608	-			91					B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.271G>T	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986708	0.74589	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274	T;T;T;T;T;T	0.76316	-1.01;-0.9;-0.85;-0.55;-0.92;-0.89	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.90445	0.7008	M	0.89968	3.075	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.91813	0.5461	10	0.87932	D	0	.	17.5684	0.87927	0.0:1.0:0.0:0.0	.	91;91;91;91;216	Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;SF01_HUMAN;.;.	W	216;91;91;91;91;65	ENSP00000366604:G216W;ENSP00000366607:G91W;ENSP00000227503:G91W;ENSP00000366611:G91W;ENSP00000334414:G91W;ENSP00000396793:G65W	ENSP00000227503:G91W	G	-	1	0	SF1	64294422	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.433000	0.80362	2.748000	0.94277	0.462000	0.41574	GGG		0.532	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		5	188	5	188	---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64676776	64676776	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:64676776G>T	ENST00000377264.3	-	15	2283	c.2171C>A	c.(2170-2172)cCc>cAc	p.P724H	ATG2A_ENST00000421419.2_Missense_Mutation_p.P724H	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	724					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGTGCTCTTGGGGTCCAGGGC	0.617																																						ENST00000421419.2																			0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(2170-2172)cCc>cAc		autophagy related 2A							56.0	56.0	56.0					11																	64676776		2201	4297	6498	SO:0001583	missense	23130						protein binding	g.chr11:64676776G>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2171C>A	11.37:g.64676776G>T	ENSP00000366475:p.Pro724His					ATG2A_ENST00000377264.3_Missense_Mutation_p.P724H	p.P724H			Q2TAZ0	ATG2A_HUMAN			15	2285	-			724					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	c.2171C>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042593	0.75732	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.06849	3.25;3.25	5.29	5.29	0.74685	.	0.279015	0.31797	N	0.007054	T	0.20210	0.0486	L	0.50333	1.59	0.44268	D	0.997121	D	0.69078	0.997	P	0.59012	0.85	T	0.00128	-1.2018	10	0.40728	T	0.16	.	16.8184	0.85739	0.0:0.0:1.0:0.0	.	724	Q2TAZ0	ATG2A_HUMAN	H	724	ENSP00000410522:P724H;ENSP00000366475:P724H	ENSP00000366475:P724H	P	-	2	0	ATG2A	64433352	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	4.713000	0.61895	2.633000	0.89246	0.655000	0.94253	CCC		0.617	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		4	103	4	103	---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65320672	65320672	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:65320672G>T	ENST00000301873.5	-	5	1294	c.1026C>A	c.(1024-1026)ccC>ccA	p.P342P	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Silent_p.P342P	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	342					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						TGTAGCCCTGGGGACAGTCAG	0.627																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(1024-1026)ccC>ccA		latent transforming growth factor beta binding protein 3							83.0	77.0	79.0					11																	65320672		2201	4297	6498	SO:0001819	synonymous_variant	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65320672G>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.1026C>A	11.37:g.65320672G>T						LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Silent_p.P342P	p.P342P	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			5	1294	-			342					O15107|Q96HB9|Q9H7K2|Q9UFN4	Silent	SNP	ENST00000301873.5	37	c.1026C>A	CCDS44647.1																																																																																				0.627	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		5	132	5	132	---	---	---	---
SSSCA1	10534	broad.mit.edu	37	11	65339074	65339074	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:65339074C>A	ENST00000309328.3	+	4	531	c.469C>A	c.(469-471)Ctc>Atc	p.L157I	FAM89B_ENST00000449319.2_5'Flank|FAM89B_ENST00000316409.2_5'Flank|SSSCA1_ENST00000531405.1_Missense_Mutation_p.L120I|SSSCA1_ENST00000526877.1_3'UTR|FAM89B_ENST00000530349.1_5'Flank|SSSCA1_ENST00000527920.1_Intron|SSSCA1-AS1_ENST00000567594.1_RNA	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	157					mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						ACAGACAGCCCTCTTGCAGAA	0.617																																						ENST00000531405.1																			0				kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(358-360)Ctc>Atc		Sjogren syndrome/scleroderma autoantigen 1							78.0	63.0	68.0					11																	65339074		2201	4297	6498	SO:0001583	missense	10534				cell division|mitosis		protein binding	g.chr11:65339074C>A	AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"""Sjogren's syndrome/scleroderma autoantigen 1"""			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.469C>A	11.37:g.65339074C>A	ENSP00000312318:p.Leu157Ile					SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.L157I	p.L120I			O60232	SSA27_HUMAN			3	594	+			157			Pro-rich.			Missense_Mutation	SNP	ENST00000309328.3	37	c.358C>A	CCDS8104.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549071	0.65311	.	.	ENSG00000173465	ENST00000309328;ENST00000531405;ENST00000533115	T;T	0.46819	0.93;0.86	4.64	3.7	0.42460	.	0.069702	0.56097	D	0.000028	T	0.30759	0.0775	L	0.36672	1.1	0.80722	D	1	P	0.34977	0.478	B	0.29267	0.1	T	0.10847	-1.0612	10	0.37606	T	0.19	-10.0507	6.744	0.23451	0.0:0.7223:0.1799:0.0978	.	157	O60232	SSA27_HUMAN	I	157;120;151	ENSP00000312318:L157I;ENSP00000435432:L151I	ENSP00000312318:L157I	L	+	1	0	SSSCA1	65095650	0.906000	0.30813	1.000000	0.80357	0.981000	0.71138	1.251000	0.32862	2.413000	0.81919	0.655000	0.94253	CTC		0.617	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389511.1	NM_006396		4	104	4	104	---	---	---	---
EHBP1L1	254102	broad.mit.edu	37	11	65350073	65350073	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:65350073C>A	ENST00000309295.4	+	9	2195	c.1930C>A	c.(1930-1932)Cca>Aca	p.P644T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	644	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CATAGAGACCCCAGGGACAGA	0.542																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1930-1932)Cca>Aca		EH domain binding protein 1-like 1							51.0	55.0	54.0					11																	65350073		1916	4147	6063	SO:0001583	missense	254102							g.chr11:65350073C>A	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1930C>A	11.37:g.65350073C>A	ENSP00000312671:p.Pro644Thr						p.P644T	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	2195	+			644			Glu-rich.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.1930C>A	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	C	9.673	1.147199	0.21288	.	.	ENSG00000173442	ENST00000309295	T	0.65364	-0.15	4.1	-2.14	0.07123	.	.	.	.	.	T	0.40619	0.1124	N	0.19112	0.55	0.09310	N	1	B	0.22003	0.063	B	0.19666	0.026	T	0.21999	-1.0229	9	0.40728	T	0.16	.	5.5454	0.17061	0.0:0.3073:0.4238:0.2689	.	644	Q8N3D4	EH1L1_HUMAN	T	644	ENSP00000312671:P644T	ENSP00000312671:P644T	P	+	1	0	EHBP1L1	65106649	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.784000	0.04633	-0.390000	0.07774	-0.463000	0.05309	CCA		0.542	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		4	96	4	96	---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66192519	66192519	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:66192519C>A	ENST00000311034.2	+	7	2334	c.2158C>A	c.(2158-2160)Cca>Aca	p.P720T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	720					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TCTCTCTACCCCAGATCCCAG	0.582																																						ENST00000311034.2																			0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(2158-2160)Cca>Aca		neuronal PAS domain protein 4							63.0	70.0	68.0					11																	66192519		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66192519C>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2158C>A	11.37:g.66192519C>A	ENSP00000311196:p.Pro720Thr						p.P720T	NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN			7	2334	+			720					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.2158C>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410354	0.25465	.	.	ENSG00000174576	ENST00000311034	T	0.51817	0.69	4.79	3.8	0.43715	.	0.119622	0.38605	N	0.001636	T	0.30262	0.0759	N	0.19112	0.55	0.40992	D	0.98486	B	0.15141	0.012	B	0.18871	0.023	T	0.14559	-1.0468	10	0.72032	D	0.01	-1.6329	6.4654	0.21980	0.0:0.7621:0.0:0.2379	.	720	Q8IUM7	NPAS4_HUMAN	T	720	ENSP00000311196:P720T	ENSP00000311196:P720T	P	+	1	0	NPAS4	65949095	0.477000	0.25909	0.998000	0.56505	0.995000	0.86356	0.776000	0.26704	1.142000	0.42291	0.655000	0.94253	CCA		0.582	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		6	188	6	188	---	---	---	---
CCS	9973	broad.mit.edu	37	11	66367007	66367007	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:66367007C>A	ENST00000533244.1	+	4	769	c.328C>A	c.(328-330)Cct>Act	p.P110T	CCS_ENST00000310190.4_Missense_Mutation_p.P91T	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	110	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						ACAGCTGACCCCTGAGCGCTG	0.612																																						ENST00000533244.1																			0				breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						c.(328-330)Cct>Act		copper chaperone for superoxide dismutase							36.0	35.0	35.0					11																	66367007		2200	4295	6495	SO:0001583	missense	9973				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding	g.chr11:66367007C>A	AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.328C>A	11.37:g.66367007C>A	ENSP00000436318:p.Pro110Thr					CCS_ENST00000310190.4_Missense_Mutation_p.P91T	p.P110T	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN			4	769	+			110			Superoxide dismutase-like.		Q2M366|Q8NEV0	Missense_Mutation	SNP	ENST00000533244.1	37	c.328C>A	CCDS8146.1	.	.	.	.	.	.	.	.	.	.	C	9.806	1.181839	0.21787	.	.	ENSG00000173992	ENST00000533244;ENST00000310190	T;T	0.45276	0.9;0.9	5.23	4.31	0.51392	Superoxide dismutase, copper/zinc binding domain (3);	0.336327	0.31577	N	0.007418	T	0.30479	0.0766	L	0.41356	1.27	0.29514	N	0.854008	B	0.15141	0.012	B	0.15052	0.012	T	0.17961	-1.0352	10	0.19590	T	0.45	.	8.7599	0.34667	0.0:0.897:0.0:0.103	.	110	O14618	CCS_HUMAN	T	110;91	ENSP00000436318:P110T;ENSP00000307870:P91T	ENSP00000307870:P91T	P	+	1	0	CCS	66123583	0.097000	0.21791	0.512000	0.27736	0.827000	0.46813	1.366000	0.34193	1.419000	0.47118	0.655000	0.94253	CCT		0.612	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393826.1	NM_005125		4	38	4	38	---	---	---	---
SSH3	54961	broad.mit.edu	37	11	67072366	67072366	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:67072366G>T	ENST00000308127.4	+	3	405	c.227G>T	c.(226-228)gGg>gTg	p.G76V	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.G76V|SSH3_ENST00000376757.5_Missense_Mutation_p.G76V	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	76					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGCTCCACGGGGACCAGACA	0.622																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(226-228)gGg>gTg		slingshot protein phosphatase 3							50.0	52.0	51.0					11																	67072366		2200	4295	6495	SO:0001583	missense	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67072366G>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.227G>T	11.37:g.67072366G>T	ENSP00000312081:p.Gly76Val					SSH3_ENST00000308298.7_Missense_Mutation_p.G76V|SSH3_ENST00000376757.5_Missense_Mutation_p.G76V|SSH3_ENST00000532181.1_3'UTR	p.G76V	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		3	405	+			76					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	ENST00000308127.4	37	c.227G>T	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	8.064	0.768767	0.15983	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.30448	3.84;1.53;3.88	5.18	0.834	0.18880	.	4.269340	0.00465	N	0.000109	T	0.25195	0.0612	L	0.36672	1.1	0.09310	N	0.999993	P	0.46395	0.877	B	0.39299	0.296	T	0.19745	-1.0296	10	0.49607	T	0.09	-4.9005	5.1975	0.15246	0.2183:0.4248:0.357:0.0	.	76	Q8TE77	SSH3_HUMAN	V	76	ENSP00000312081:G76V;ENSP00000310055:G76V;ENSP00000365948:G76V	ENSP00000312081:G76V	G	+	2	0	SSH3	66828942	0.002000	0.14202	0.003000	0.11579	0.018000	0.09664	0.014000	0.13333	0.177000	0.19895	0.561000	0.74099	GGG		0.622	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276		4	48	4	48	---	---	---	---
INPPL1	3636	broad.mit.edu	37	11	71948310	71948310	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:71948310C>A	ENST00000298229.2	+	26	3226	c.3022C>A	c.(3022-3024)Cct>Act	p.P1008T	INPPL1_ENST00000538751.1_Missense_Mutation_p.P766T|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Missense_Mutation_p.P766T	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1008	Pro-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGCCAGGGCCCCTGTCCCATC	0.632																																						ENST00000298229.2																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(3022-3024)Cct>Act		inositol polyphosphate phosphatase-like 1							71.0	85.0	80.0					11																	71948310		2200	4293	6493	SO:0001583	missense	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71948310C>A	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.3022C>A	11.37:g.71948310C>A	ENSP00000298229:p.Pro1008Thr					INPPL1_ENST00000538751.1_Missense_Mutation_p.P766T|INPPL1_ENST00000541756.1_Missense_Mutation_p.P766T	p.P1008T	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN			26	3226	+			1008			Pro-rich.		B2RTX5|Q13577|Q13578	Missense_Mutation	SNP	ENST00000298229.2	37	c.3022C>A	CCDS8213.1	.	.	.	.	.	.	.	.	.	.	c	6.531	0.466166	0.12402	.	.	ENSG00000165458	ENST00000298229;ENST00000541756;ENST00000538751;ENST00000541752	D;D;D;T	0.96802	-3.02;-4.13;-4.13;1.28	5.19	4.26	0.50523	.	0.298625	0.31020	N	0.008420	D	0.91623	0.7353	N	0.24115	0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	D	0.84191	0.0445	10	0.49607	T	0.09	.	11.0693	0.47993	0.1857:0.8143:0.0:0.0	.	1008	O15357	SHIP2_HUMAN	T	1008;766;766;21	ENSP00000298229:P1008T;ENSP00000446360:P766T;ENSP00000444619:P766T;ENSP00000441094:P21T	ENSP00000298229:P1008T	P	+	1	0	INPPL1	71625958	0.025000	0.19082	0.984000	0.44739	0.952000	0.60782	1.563000	0.36364	1.163000	0.42636	-0.521000	0.04368	CCT		0.632	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		5	151	5	151	---	---	---	---
RNF169	254225	broad.mit.edu	37	11	74547027	74547027	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:74547027G>T	ENST00000299563.4	+	6	1392	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	460					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						CCTGAAATGGGGGAAGAGTTA	0.473																																						ENST00000299563.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						c.(1378-1380)gGg>gTg		ring finger protein 169							127.0	127.0	127.0					11																	74547027		1859	4087	5946	SO:0001583	missense	254225						zinc ion binding	g.chr11:74547027G>T	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.1379G>T	11.37:g.74547027G>T	ENSP00000299563:p.Gly460Val						p.G460V	NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN			6	1392	+			460					Q6N015	Missense_Mutation	SNP	ENST00000299563.4	37	c.1379G>T	CCDS41691.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.953438	0.53293	.	.	ENSG00000166439	ENST00000299563	T	0.67698	-0.28	5.99	4.09	0.47781	.	0.222764	0.39341	N	0.001389	T	0.79215	0.4408	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79605	-0.1734	10	0.87932	D	0	-19.6922	9.7784	0.40634	0.0768:0.1417:0.7815:0.0	.	460	Q8NCN4	RN169_HUMAN	V	460	ENSP00000299563:G460V	ENSP00000299563:G460V	G	+	2	0	RNF169	74224675	1.000000	0.71417	0.998000	0.56505	0.869000	0.49853	1.968000	0.40500	0.836000	0.34901	0.655000	0.94253	GGG		0.473	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384741.1	XM_495886		7	357	7	357	---	---	---	---
DGAT2	84649	broad.mit.edu	37	11	75507428	75507428	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:75507428C>A	ENST00000228027.7	+	5	745	c.485C>A	c.(484-486)cCc>cAc	p.P162H	DGAT2_ENST00000376262.3_Missense_Mutation_p.P119H	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN	diacylglycerol O-acyltransferase 2	162					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|cellular response to oleic acid (GO:0071400)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|diacylglycerol metabolic process (GO:0046339)|fat pad development (GO:0060613)|fatty acid homeostasis (GO:0055089)|glycerol metabolic process (GO:0006071)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid metabolic process (GO:0006644)|regulation of plasma lipoprotein particle levels (GO:0097006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)|protein homodimerization activity (GO:0042803)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					GGATACCACCCCCATGGTATC	0.547																																					Melanoma(35;811 1096 8354 24009 39363)	ENST00000228027.7																			0				endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17						c.(484-486)cCc>cAc		diacylglycerol O-acyltransferase 2							168.0	164.0	165.0					11																	75507428		2200	4293	6493	SO:0001583	missense	84649				glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr11:75507428C>A		CCDS31642.1, CCDS58162.1	11q13.3	2010-06-24	2010-06-24		ENSG00000062282	ENSG00000062282			16940	protein-coding gene	gene with protein product		606983	"""diacylglycerol O-acyltransferase homolog 2 (mouse)"""			11481335, 14970677	Standard	NM_032564		Approved		uc001oxa.3	Q96PD7	OTTHUMG00000165338	ENST00000228027.7:c.485C>A	11.37:g.75507428C>A	ENSP00000228027:p.Pro162His					DGAT2_ENST00000376262.3_Missense_Mutation_p.P119H	p.P162H	NM_032564.4	NP_115953.2	Q96PD7	DGAT2_HUMAN			5	745	+	Ovarian(111;0.103)		162					A6ND76|Q5U810|Q68CL3|Q68DJ0|Q8NDB7|Q96BS0|Q9BYE5	Missense_Mutation	SNP	ENST00000228027.7	37	c.485C>A	CCDS31642.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858739	0.91433	.	.	ENSG00000062282	ENST00000524706;ENST00000533517;ENST00000228027;ENST00000376262;ENST00000525612;ENST00000526306	T;T	0.35973	1.28;1.28	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.73148	0.3550	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.80973	-0.1143	10	0.87932	D	0	-37.4176	18.8203	0.92094	0.0:1.0:0.0:0.0	.	119;162	Q96PD7-2;Q96PD7	.;DGAT2_HUMAN	H	71;71;162;119;116;71	ENSP00000228027:P162H;ENSP00000365438:P119H	ENSP00000228027:P162H	P	+	2	0	DGAT2	75185076	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.352000	0.79404	2.782000	0.95742	0.655000	0.94253	CCC		0.547	DGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383506.1	NM_032564		6	353	6	353	---	---	---	---
TRIM49	57093	broad.mit.edu	37	11	89531568	89531568	+	Silent	SNP	T	T	C	rs560492199	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:89531568T>C	ENST00000329758.1	-	8	1417	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	TRIM49_ENST00000532501.2_Silent_p.K286K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	363	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K363K(3)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCTTCTCTTTCCGATACA	0.458													c|||	2	0.000399361	0.0008	0.0	5008	,	,		20193	0.001		0.0	False		,,,				2504	0.0					ENST00000329758.1																			3	Substitution - coding silent(3)	p.K363K(3)	endometrium(2)|prostate(1)	breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27						c.(1087-1089)aaA>aaG		tripartite motif containing 49							74.0	79.0	77.0					11																	89531568		2195	4299	6494	SO:0001819	synonymous_variant	57093					intracellular	zinc ion binding	g.chr11:89531568T>C	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1089A>G	11.37:g.89531568T>C						TRIM49_ENST00000532501.2_Silent_p.K286K	p.K363K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN			8	1417	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	363			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Silent	SNP	ENST00000329758.1	37	c.1089A>G	CCDS8287.1																																																																																				0.458	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		6	225	6	225	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92523311	92523311	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:92523311C>A	ENST00000298047.6	+	7	4555	c.4538C>A	c.(4537-4539)cCt>cAt	p.P1513H	FAT3_ENST00000525166.1_Missense_Mutation_p.P1363H|FAT3_ENST00000409404.2_Missense_Mutation_p.P1513H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1513	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGGATTGACCCTAGCACTGGC	0.488										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(4537-4539)cCt>cAt		FAT atypical cadherin 3							172.0	167.0	168.0					11																	92523311		2060	4209	6269	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92523311C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4538C>A	11.37:g.92523311C>A	ENSP00000298047:p.Pro1513His	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.P1513H|FAT3_ENST00000525166.1_Missense_Mutation_p.P1363H	p.P1513H			Q8TDW7	FAT3_HUMAN			7	4555	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1513			Cadherin 14.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4538C>A		.	.	.	.	.	.	.	.	.	.	C	22.2	4.262686	0.80358	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.55234	0.53;0.53;0.53	6.17	5.24	0.73138	.	.	.	.	.	T	0.81302	0.4794	H	0.96547	3.84	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	D	0.88004	0.2758	9	0.72032	D	0.01	.	17.4035	0.87467	0.0:0.8754:0.1246:0.0	.	1513	Q8TDW7-3	.	H	1513;1513;1363	ENSP00000298047:P1513H;ENSP00000387040:P1513H;ENSP00000432586:P1363H	ENSP00000298047:P1513H	P	+	2	0	FAT3	92162959	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	4.737000	0.62066	1.565000	0.49641	0.655000	0.94253	CCT		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		6	264	6	264	---	---	---	---
GPR83	10888	broad.mit.edu	37	11	94134379	94134379	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:94134379G>T	ENST00000243673.2	-	1	206	c.35C>A	c.(34-36)cCc>cAc	p.P12H	GPR83_ENST00000539203.2_Missense_Mutation_p.P12H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	12					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCGCACCAAGGGGAGGAGACA	0.706																																						ENST00000243673.2																			0				NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19						c.(34-36)cCc>cAc		G protein-coupled receptor 83							22.0	24.0	23.0					11																	94134379		2199	4285	6484	SO:0001583	missense	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94134379G>T	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.35C>A	11.37:g.94134379G>T	ENSP00000243673:p.Pro12His					GPR83_ENST00000539203.2_Missense_Mutation_p.P12H	p.P12H	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN			1	206	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	12					B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	ENST00000243673.2	37	c.35C>A	CCDS8297.1	.	.	.	.	.	.	.	.	.	.	G	4.942	0.174994	0.09391	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.60548	0.18;0.27	4.68	-4.63	0.03359	.	0.961491	0.08610	N	0.920216	T	0.31199	0.0789	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22941	-1.0202	10	0.22109	T	0.4	.	10.1798	0.42961	0.0:0.1467:0.6572:0.1961	.	12	Q9NYM4	GPR83_HUMAN	H	12	ENSP00000243673:P12H;ENSP00000441550:P12H	ENSP00000243673:P12H	P	-	2	0	GPR83	93774027	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.781000	0.04648	-0.539000	0.06273	-0.521000	0.04368	CCC		0.706	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		5	59	5	59	---	---	---	---
MMP1	4312	broad.mit.edu	37	11	102662178	102662178	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:102662178G>T	ENST00000315274.6	-	8	1149	c.1082C>A	c.(1081-1083)cCc>cAc	p.P361H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	361					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GATGTCCTTGGGGTATCCGTG	0.448																																						ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1081-1083)cCc>cAc		matrix metallopeptidase 1 (interstitial collagenase)							250.0	231.0	237.0					11																	102662178		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102662178G>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1082C>A	11.37:g.102662178G>T	ENSP00000322788:p.Pro361His					WTAPP1_ENST00000525739.2_RNA	p.P361H	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	8	1149	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	361			Hemopexin-like 2.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.1082C>A	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	19.47	3.833361	0.71258	.	.	ENSG00000196611	ENST00000315274	T	0.59224	0.28	5.62	4.7	0.59300	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000010	D	0.84365	0.5456	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90020	0.4127	10	0.87932	D	0	.	14.1056	0.65088	0.0729:0.0:0.9271:0.0	.	361	P03956	MMP1_HUMAN	H	361	ENSP00000322788:P361H	ENSP00000322788:P361H	P	-	2	0	MMP1	102167388	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	6.563000	0.73964	1.498000	0.48600	0.655000	0.94253	CCC		0.448	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		7	535	7	535	---	---	---	---
MMP13	4322	broad.mit.edu	37	11	102820888	102820888	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:102820888G>T	ENST00000260302.3	-	6	896	c.868C>A	c.(868-870)Ctt>Att	p.L290I	MMP13_ENST00000340273.4_Missense_Mutation_p.L290I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	290	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	ATGGCATCAAGGGATAAGGAA	0.433																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(868-870)Ctt>Att		matrix metallopeptidase 13 (collagenase 3)							328.0	297.0	308.0					11																	102820888		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102820888G>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.868C>A	11.37:g.102820888G>T	ENSP00000260302:p.Leu290Ile					MMP13_ENST00000340273.4_Missense_Mutation_p.L290I	p.L290I	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	6	896	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	290			Hemopexin-like 1.		A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.868C>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578299	0.45902	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.01647	4.71;4.71	5.77	4.84	0.62591	Hemopexin/matrixin (2);	0.366010	0.32055	N	0.006648	T	0.01976	0.0062	N	0.16130	0.375	0.31482	N	0.667005	B	0.16603	0.018	B	0.31614	0.133	T	0.18085	-1.0348	10	0.52906	T	0.07	.	13.322	0.60438	0.0:0.0:0.6044:0.3955	.	290	P45452	MMP13_HUMAN	I	290	ENSP00000260302:L290I;ENSP00000339672:L290I	ENSP00000260302:L290I	L	-	1	0	MMP13	102326098	0.955000	0.32602	1.000000	0.80357	0.998000	0.95712	0.937000	0.28951	1.388000	0.46506	0.650000	0.86243	CTT		0.433	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		8	312	8	312	---	---	---	---
MMP13	4322	broad.mit.edu	37	11	102820932	102820932	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:102820932G>T	ENST00000260302.3	-	6	852	c.824C>A	c.(823-825)cCt>cAt	p.P275H	MMP13_ENST00000340273.4_Missense_Mutation_p.P275H	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	275	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TGGATGTTTAGGGTTGGGGTC	0.448																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(823-825)cCt>cAt		matrix metallopeptidase 13 (collagenase 3)							377.0	345.0	356.0					11																	102820932		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102820932G>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.824C>A	11.37:g.102820932G>T	ENSP00000260302:p.Pro275His					MMP13_ENST00000340273.4_Missense_Mutation_p.P275H	p.P275H	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	6	852	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	275					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.824C>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524966	0.85600	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.20200	2.29;2.09	5.66	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	M	0.85462	2.755	0.80722	D	1	P	0.48350	0.909	P	0.50136	0.632	T	0.49322	-0.8952	10	0.87932	D	0	.	15.6762	0.77326	0.0:0.0:0.8624:0.1376	.	275	P45452	MMP13_HUMAN	H	275	ENSP00000260302:P275H;ENSP00000339672:P275H	ENSP00000260302:P275H	P	-	2	0	MMP13	102326142	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.816000	0.55658	2.654000	0.90174	0.650000	0.86243	CCT		0.448	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		6	370	6	370	---	---	---	---
CARD17	440068	broad.mit.edu	37	11	104971436	104971436	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:104971436C>A	ENST00000375707.1	-	2	94	c.78G>T	c.(76-78)ctG>ctT	p.L26L	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	NM_001007232.1	NP_001007233.1	Q5XLA6	CAR17_HUMAN	caspase recruitment domain family, member 17	26	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						ATAATTCACCCAGTAAGCCAT	0.438																																						ENST00000375707.1																			0				breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						c.(76-78)ctG>ctT		caspase recruitment domain family, member 17							203.0	192.0	195.0					11																	104971436		2202	4299	6501	SO:0001819	synonymous_variant	440068							g.chr11:104971436C>A		CCDS31662.1	11q22.3	2009-01-13				ENSG00000255221			33827	protein-coding gene	gene with protein product	"""Inhibitory CARD"""	609490				15383541	Standard	NM_001007232		Approved	INCA	uc001pir.1	Q5XLA6		ENST00000375707.1:c.78G>T	11.37:g.104971436C>A						CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Intron|CASP1_ENST00000415981.2_Intron	p.L26L	NM_001007232.1	NP_001007233.1					2	94	-									Silent	SNP	ENST00000375707.1	37	c.78G>T	CCDS31662.1																																																																																				0.438	CARD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388181.1	NM_001007232		7	439	7	439	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118501983	118501983	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:118501983G>T	ENST00000361417.2	+	8	2298	c.1887G>T	c.(1885-1887)ggG>ggT	p.G629G	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Silent_p.G629G	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	629										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGGCTGATGGGGGACCTGAGG	0.667																																						ENST00000361417.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(1885-1887)ggG>ggT		pleckstrin homology-like domain, family B, member 1							86.0	95.0	92.0					11																	118501983		2196	4290	6486	SO:0001819	synonymous_variant	23187							g.chr11:118501983G>T		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1887G>T	11.37:g.118501983G>T						PHLDB1_ENST00000356063.5_Silent_p.G629G|PHLDB1_ENST00000534672.1_3'UTR	p.G629G	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	8	2298	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	629					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.1887G>T	CCDS8401.1																																																																																				0.667	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		7	238	7	238	---	---	---	---
ACRV1	56	broad.mit.edu	37	11	125547733	125547733	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:125547733C>A	ENST00000533904.1	-	2	854	c.512G>T	c.(511-513)gGg>gTg	p.G171V	ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000348856.3_Missense_Mutation_p.G71V|ACRV1_ENST00000530048.1_Missense_Mutation_p.G116V|ACRV1_ENST00000315608.3_Intron|ACRV1_ENST00000445562.1_Missense_Mutation_p.G76V|ACRV1_ENST00000345274.1_Missense_Mutation_p.G101V|ACRV1_ENST00000527795.1_Missense_Mutation_p.G101V			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	171	9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		AGCCTGTTCCCCTGAAGCGTG	0.542																																						ENST00000533904.1																			0				kidney(1)|large_intestine(3)|lung(2)	6						c.(511-513)gGg>gTg		acrosomal vesicle protein 1							138.0	119.0	125.0					11																	125547733		2201	4299	6500	SO:0001583	missense	56				multicellular organismal development	acrosomal vesicle		g.chr11:125547733C>A	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.512G>T	11.37:g.125547733C>A	ENSP00000432816:p.Gly171Val					ACRV1_ENST00000530048.1_Missense_Mutation_p.G116V|ACRV1_ENST00000348856.3_Missense_Mutation_p.G71V|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000445562.1_Missense_Mutation_p.G76V|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000345274.1_Missense_Mutation_p.G101V|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000315608.3_Intron|ACRV1_ENST00000527795.1_Missense_Mutation_p.G101V	p.G171V			P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	2	854	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	171			9 X 5 AA repeats of [SV]-G-E-Q-[PSA].		Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	37	c.512G>T	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400802	0.42613	.	.	ENSG00000134940	ENST00000533904;ENST00000257382;ENST00000426183;ENST00000445562;ENST00000348856;ENST00000345274;ENST00000530048;ENST00000527795	T;T;T;T;T;T;T;T	0.21031	2.07;2.06;2.09;2.06;2.12;2.03;2.06;2.09	3.71	1.75	0.24633	.	1.333810	0.05186	N	0.502273	T	0.38506	0.1043	M	0.72118	2.19	0.22811	N	0.998709	P;D;D;P;D	0.58970	0.617;0.972;0.984;0.95;0.977	B;P;P;P;P	0.61592	0.242;0.891;0.804;0.733;0.656	T	0.08310	-1.0728	10	0.42905	T	0.14	1.0809	2.9339	0.05808	0.2184:0.5431:0.0:0.2385	.	171;101;76;116;101	P26436;P26436-8;P26436-6;P26436-3;P26436-4	ASPX_HUMAN;.;.;.;.	V	171;116;101;76;71;101;116;101	ENSP00000432816:G171V;ENSP00000257382:G116V;ENSP00000411583:G101V;ENSP00000412653:G76V;ENSP00000257385:G71V;ENSP00000257383:G101V;ENSP00000433720:G116V;ENSP00000436819:G101V	ENSP00000257382:G116V	G	-	2	0	ACRV1	125052943	0.000000	0.05858	0.001000	0.08648	0.129000	0.20672	0.150000	0.16263	0.495000	0.27882	0.655000	0.94253	GGG		0.542	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		5	137	5	137	---	---	---	---
SRPR	6734	broad.mit.edu	37	11	126135967	126135967	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:126135967C>A	ENST00000332118.6	-	8	1096	c.942G>T	c.(940-942)aaG>aaT	p.K314N	SRPR_ENST00000532259.1_Missense_Mutation_p.K286N|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	314					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCAGTGTTCCCTTGGTCGCAC	0.493																																						ENST00000332118.6																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(940-942)aaG>aaT		signal recognition particle receptor (docking protein)							172.0	163.0	166.0					11																	126135967		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126135967C>A	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.942G>T	11.37:g.126135967C>A	ENSP00000328023:p.Lys314Asn					SRPR_ENST00000532259.1_Missense_Mutation_p.K286N	p.K314N	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	8	1096	-	all_hematologic(175;0.145)		314					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.942G>T	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.920929	0.33908	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.25	4.34	0.51931	Signal recognition particle, SRP54 subunit, helical bundle (1);	0.044190	0.85682	D	0.000000	T	0.52549	0.1741	L	0.48986	1.54	0.54753	D	0.999981	B;B	0.19935	0.01;0.04	B;B	0.18561	0.005;0.022	T	0.46665	-0.9175	9	0.20519	T	0.43	-15.7727	10.5179	0.44900	0.0:0.7979:0.0:0.2021	.	286;314	E9PJS4;P08240	.;SRPR_HUMAN	N	314;286	.	ENSP00000328023:K314N	K	-	3	2	SRPR	125641177	0.998000	0.40836	1.000000	0.80357	0.740000	0.42216	0.852000	0.27764	1.461000	0.47929	-0.136000	0.14681	AAG		0.493	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		6	360	6	360	---	---	---	---
ARHGAP32	9743	broad.mit.edu	37	11	128839338	128839338	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:128839338C>A	ENST00000310343.9	-	22	5727	c.5728G>T	c.(5728-5730)Ggg>Tgg	p.G1910W	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1561W|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1561W	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1910	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCTGGAATCCCTTTGGACCCA	0.502																																						ENST00000310343.9																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						c.(5728-5730)Ggg>Tgg		Rho GTPase activating protein 32							77.0	81.0	80.0					11																	128839338		2201	4297	6498	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128839338C>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.5728G>T	11.37:g.128839338C>A	ENSP00000310561:p.Gly1910Trp					ARHGAP32_ENST00000392657.3_Missense_Mutation_p.G1561W|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.G1561W	p.G1910W	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN			22	5727	-			1910			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.5728G>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174215	0.57692	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.13196	2.64;2.61;2.61	5.84	4.93	0.64822	.	0.304334	0.36555	N	0.002524	T	0.35653	0.0939	M	0.66939	2.045	0.37697	D	0.924087	D	0.89917	1.0	D	0.72075	0.976	T	0.39781	-0.9597	10	0.87932	D	0	.	14.8961	0.70644	0.0:0.9312:0.0:0.0688	.	1910	A7KAX9	RHG32_HUMAN	W	1910;1561;1561	ENSP00000310561:G1910W;ENSP00000376425:G1561W;ENSP00000432862:G1561W	ENSP00000310561:G1910W	G	-	1	0	ARHGAP32	128344548	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.843000	0.55865	1.478000	0.48253	0.655000	0.94253	GGG		0.502	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		5	172	5	172	---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129752403	129752403	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:129752403C>A	ENST00000446488.3	-	9	1128	c.1025G>T	c.(1024-1026)gGg>gTg	p.G342V	NFRKB_ENST00000524794.1_Missense_Mutation_p.G367V|NFRKB_ENST00000304521.5_Missense_Mutation_p.G342V|NFRKB_ENST00000524746.1_Missense_Mutation_p.G342V	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	342					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AGGTGCGACCCCTTCAGTACT	0.468																																						ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(1024-1026)gGg>gTg		nuclear factor related to kappaB binding protein							118.0	122.0	121.0					11																	129752403		2201	4297	6498	SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129752403C>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1025G>T	11.37:g.129752403C>A	ENSP00000400476:p.Gly342Val					NFRKB_ENST00000304521.5_Missense_Mutation_p.G342V|NFRKB_ENST00000524794.1_Missense_Mutation_p.G367V|NFRKB_ENST00000524746.1_Missense_Mutation_p.G342V	p.G342V	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	9	1128	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	342					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.1025G>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	C	6.604	0.479915	0.12581	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.81	4.88	0.63580	.	0.335667	0.35349	N	0.003278	T	0.28928	0.0718	N	0.19112	0.55	0.26447	N	0.975673	B;B;B;B	0.22683	0.043;0.018;0.073;0.03	B;B;B;B	0.21151	0.015;0.015;0.033;0.033	T	0.26121	-1.0112	9	0.72032	D	0.01	-12.8334	10.94	0.47268	0.1461:0.7133:0.1406:0.0	.	354;342;342;367	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	V	342;342;367;342;354	.	ENSP00000303800:G342V	G	-	2	0	NFRKB	129257613	0.417000	0.25432	0.030000	0.17652	0.038000	0.13279	2.493000	0.45320	1.427000	0.47276	0.655000	0.94253	GGG		0.468	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		6	249	6	249	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	978200	978200	+	Intron	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:978200C>A	ENST00000315939.6	+	9	2782				WNK1_ENST00000530271.2_Missense_Mutation_p.P1188H|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.P402H|WNK1_ENST00000537687.1_Missense_Mutation_p.P1103H|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1						intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TTCTGTTTCCCCCAAGGAACC	0.458																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(3307-3309)cCc>cAc		WNK lysine deficient protein kinase 1							311.0	301.0	304.0					12																	978200		1914	4140	6054	SO:0001627	intron_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:978200C>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2140-2231C>A	12.37:g.978200C>A						WNK1_ENST00000574564.1_Missense_Mutation_p.P402H|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.P1188H	p.P1103H	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		9	3951	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		849					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.3308C>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372403	0.61624	.	.	ENSG00000060237	ENST00000537687;ENST00000530271	T;T	0.18016	2.24;2.24	5.75	5.75	0.90469	.	.	.	.	.	T	0.46054	0.1373	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.40327	-0.9569	8	0.72032	D	0.01	.	18.1186	0.89564	0.0:1.0:0.0:0.0	.	1188	F5H2M7	.	H	1103;1188	ENSP00000444465:P1103H;ENSP00000433548:P1188H	ENSP00000433548:P1188H	P	+	2	0	WNK1	848461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.436000	0.44819	2.709000	0.92574	0.557000	0.71058	CCC		0.458	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		9	780	9	780	---	---	---	---
RAD52	5893	broad.mit.edu	37	12	1039296	1039296	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:1039296C>A	ENST00000358495.3	-	4	339	c.201G>T	c.(199-201)gaG>gaT	p.E67D	RAD52_ENST00000541619.1_Missense_Mutation_p.E67D|RAD52_ENST00000536177.1_Missense_Mutation_p.E67D|RAD52_ENST00000545564.1_Missense_Mutation_p.E67D|RAD52_ENST00000539046.1_De_novo_Start_OutOfFrame|RAD52_ENST00000430095.2_Missense_Mutation_p.E67D|RAD52_ENST00000544742.1_Missense_Mutation_p.E67D	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	67					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			CCCGATGACCCTCAATGTAGC	0.398								Homologous recombination																														ENST00000539046.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19							Homologous recombination	RAD52 homolog (S. cerevisiae)							114.0	93.0	100.0					12																	1039296		2203	4300	6503	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1039296C>A		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.201G>T	12.37:g.1039296C>A	ENSP00000351284:p.Glu67Asp					RAD52_ENST00000430095.2_Missense_Mutation_p.E67D|RAD52_ENST00000545564.1_Missense_Mutation_p.E67D|RAD52_ENST00000544742.1_Missense_Mutation_p.E67D|RAD52_ENST00000536177.1_Missense_Mutation_p.E67D|RAD52_ENST00000541619.1_Missense_Mutation_p.E67D|RAD52_ENST00000358495.3_Missense_Mutation_p.E67D				P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		0	82	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)							Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Translation_Start_Site	SNP	ENST00000358495.3	37		CCDS8507.2	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716582	0.48622	.	.	ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000536177;ENST00000545564;ENST00000542785;ENST00000397230;ENST00000544742;ENST00000541619	T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	4.89	-0.279	0.12890	.	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	M	0.80746	2.51	0.52501	D	0.999952	P;D;D	0.89917	0.92;1.0;0.993	P;D;D	0.87578	0.804;0.998;0.969	T	0.49771	-0.8904	10	0.54805	T	0.06	-14.5545	9.4734	0.38856	0.0:0.4049:0.0:0.5951	.	67;67;67	F5GX32;Q9Y5T7;P43351	.;.;RAD52_HUMAN	D	67	ENSP00000351284:E67D;ENSP00000387901:E67D;ENSP00000440486:E67D;ENSP00000440268:E67D;ENSP00000441073:E67D;ENSP00000380407:E67D;ENSP00000443254:E67D;ENSP00000438965:E67D	ENSP00000351284:E67D	E	-	3	2	RAD52	909557	0.976000	0.34144	0.996000	0.52242	0.432000	0.31715	0.098000	0.15189	-0.023000	0.13963	0.305000	0.20034	GAG		0.398	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2	NM_134424		4	111	4	111	---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6640148	6640148	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:6640148C>A	ENST00000315579.5	+	31	4825	c.4026C>A	c.(4024-4026)ccC>ccA	p.P1342P	RP5-940J5.3_ENST00000537921.1_RNA|GAPDH_ENST00000229239.5_5'Flank|NCAPD2_ENST00000545962.1_Silent_p.P1297P	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1342					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)	p.P1342P(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CACCAGAGCCCCGCCGTACTA	0.483																																						ENST00000315579.5																			1	Substitution - coding silent(1)	p.P1342P(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						c.(4024-4026)ccC>ccA		non-SMC condensin I complex, subunit D2							65.0	75.0	72.0					12																	6640148		2203	4300	6503	SO:0001819	synonymous_variant	9918				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	g.chr12:6640148C>A	D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.4026C>A	12.37:g.6640148C>A						NCAPD2_ENST00000545962.1_Silent_p.P1297P	p.P1342P	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN			31	4825	+			1342					D3DUR4|Q8N6U3	Silent	SNP	ENST00000315579.5	37	c.4026C>A	CCDS8548.1																																																																																				0.483	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399964.1	NM_014865		5	118	5	118	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6710586	6710586	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:6710586C>A	ENST00000357008.2	-	6	831	c.668G>T	c.(667-669)gGg>gTg	p.G223V	CHD4_ENST00000309577.6_Missense_Mutation_p.G223V|CHD4_ENST00000544040.1_Missense_Mutation_p.G216V|CHD4_ENST00000544484.1_Missense_Mutation_p.G220V	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	223					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						CACTGATGCCCCAGAACTGCC	0.562																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(667-669)gGg>gTg		chromodomain helicase DNA binding protein 4							120.0	132.0	128.0					12																	6710586		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6710586C>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.668G>T	12.37:g.6710586C>A	ENSP00000349508:p.Gly223Val					CHD4_ENST00000544040.1_Missense_Mutation_p.G216V|CHD4_ENST00000544484.1_Missense_Mutation_p.G220V|CHD4_ENST00000357008.2_Missense_Mutation_p.G223V	p.G223V			Q14839	CHD4_HUMAN			6	831	-			223					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.668G>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223844	0.39300	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464;ENST00000545942	D;D;D;D;T	0.90069	-2.61;-2.61;-2.61;-2.61;0.93	5.87	5.87	0.94306	.	0.278611	0.34652	N	0.003799	D	0.86944	0.6055	L	0.44542	1.39	0.80722	D	1	P;P;P	0.41624	0.705;0.757;0.705	B;B;B	0.44044	0.439;0.293;0.439	D	0.84551	0.0644	10	0.26408	T	0.33	3.1869	15.6633	0.77206	0.0:0.8636:0.1364:0.0	.	223;223;216	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	V	220;216;223;223;197;223	ENSP00000440392:G220V;ENSP00000440542:G216V;ENSP00000312419:G223V;ENSP00000349508:G223V;ENSP00000437506:G223V	ENSP00000312419:G223V	G	-	2	0	CHD4	6580847	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.749000	0.47492	2.774000	0.95407	0.650000	0.86243	GGG		0.562	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	324	7	324	---	---	---	---
CD163	9332	broad.mit.edu	37	12	7635313	7635313	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:7635313C>A	ENST00000359156.4	-	14	3375	c.3173G>T	c.(3172-3174)gGg>gTg	p.G1058V	CD163_ENST00000541972.1_Missense_Mutation_p.G1046V|CD163_ENST00000432237.2_Missense_Mutation_p.G1058V|CD163_ENST00000396620.3_Missense_Mutation_p.G1091V|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1058					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CAGAACAACCCCAAGGATCCC	0.413																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3172-3174)gGg>gTg		CD163 molecule							122.0	127.0	125.0					12																	7635313		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7635313C>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3173G>T	12.37:g.7635313C>A	ENSP00000352071:p.Gly1058Val					CD163_ENST00000396620.3_Missense_Mutation_p.G1091V|CD163_ENST00000432237.2_Missense_Mutation_p.G1058V|CD163_ENST00000541972.1_Missense_Mutation_p.G1046V	p.G1058V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			14	3375	-			1058					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3173G>T	CCDS8578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.05|13.05	2.121859|2.121859	0.37436|0.37436	.|.	.|.	ENSG00000177575|ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237|ENST00000537626	T;T;T;T|T	0.01287|0.03889	5.05;5.08;5.06;5.08|3.77	4.19|4.19	3.29|3.29	0.37713|0.37713	.|.	0.770143|0.770143	0.11033|0.11033	N|N	0.606955|0.606955	T|T	0.06826|0.06826	0.0174|0.0174	L|L	0.29908|0.29908	0.895|0.895	0.27904|0.27904	N|N	0.938884|0.938884	D;D;D|.	0.89917|.	1.0;0.991;1.0|.	D;P;D|.	0.91635|.	0.999;0.83;0.999|.	T|T	0.29427|0.29427	-1.0012|-1.0012	10|8	0.38643|0.87932	T|D	0.18|0	.|.	10.2255|10.2255	0.43222|0.43222	0.0:0.7993:0.2007:0.0|0.0:0.7993:0.2007:0.0	.|.	1091;1058;1058|.	C9JHR8;Q86VB7-3;Q86VB7|.	.;.;C163A_HUMAN|.	V|W	1058;1046;1091;1058|71	ENSP00000352071:G1058V;ENSP00000444071:G1046V;ENSP00000379863:G1091V;ENSP00000403885:G1058V|ENSP00000439226:G71W	ENSP00000352071:G1058V|ENSP00000439226:G71W	G|G	-|-	2|1	0|0	CD163|CD163	7526580|7526580	0.109000|0.109000	0.22037|0.22037	0.119000|0.119000	0.21687|0.21687	0.026000|0.026000	0.11368|0.11368	1.796000|1.796000	0.38794|0.38794	1.356000|1.356000	0.45884|0.45884	0.462000|0.462000	0.41574|0.41574	GGG|GGG		0.413	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		6	244	6	244	---	---	---	---
SLCO1B1	10599	broad.mit.edu	37	12	21391915	21391915	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:21391915G>T	ENST00000256958.2	+	15	1964	c.1868G>T	c.(1867-1869)aGg>aTg	p.R623M		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	623					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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	TTCTACAGAAGGGTCTACTTG	0.264																																						ENST00000256958.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70						c.(1867-1869)aGg>aTg		solute carrier organic anion transporter family, member 1B1	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						43.0	48.0	46.0					12																	21391915		2167	4282	6449	SO:0001583	missense	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21391915G>T		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1868G>T	12.37:g.21391915G>T	ENSP00000256958:p.Arg623Met						p.R623M	NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN			15	1964	+			623					B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	c.1868G>T	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	3.105	-0.183903	0.06340	.	.	ENSG00000134538	ENST00000256958	T	0.58210	0.35	3.13	-6.26	0.02033	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.930800	0.03337	N	0.194212	T	0.25306	0.0615	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.14023	0.01	T	0.06698	-1.0812	10	0.40728	T	0.16	.	0.7799	0.01039	0.2594:0.3073:0.111:0.3223	.	623	Q9Y6L6	SO1B1_HUMAN	M	623	ENSP00000256958:R623M	ENSP00000256958:R623M	R	+	2	0	SLCO1B1	21283182	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.552000	0.06020	-1.050000	0.03230	-2.215000	0.00298	AGG		0.264	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		5	188	5	188	---	---	---	---
KLHL42	57542	broad.mit.edu	37	12	27933756	27933756	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:27933756C>A	ENST00000381271.2	+	1	804	c.493C>A	c.(493-495)Cag>Aag	p.Q165K	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	165					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GTGCAAGCCCCAGTTCCACCT	0.662																																						ENST00000381271.2																			0											c.(493-495)Cag>Aag		kelch-like family member 42							49.0	54.0	52.0					12																	27933756		2203	4300	6503	SO:0001583	missense	57542							g.chr12:27933756C>A	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.493C>A	12.37:g.27933756C>A	ENSP00000370671:p.Gln165Lys					RP11-860B13.1_ENST00000545904.1_RNA	p.Q165K	NM_020782.1	NP_065833.1					1	804	+								Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	c.493C>A	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004092	0.54254	.	.	ENSG00000087448	ENST00000381271	T	0.68479	-0.33	4.68	4.68	0.58851	BTB/Kelch-associated (1);	0.362481	0.28555	N	0.014937	T	0.45577	0.1349	N	0.14661	0.345	0.31467	N	0.668855	B	0.20164	0.042	B	0.16722	0.016	T	0.41270	-0.9518	10	0.11182	T	0.66	.	12.0231	0.53354	0.0:0.7142:0.2858:0.0	.	165	Q9P2K6	KLDC5_HUMAN	K	165	ENSP00000370671:Q165K	ENSP00000370671:Q165K	Q	+	1	0	KLHDC5	27825023	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	4.394000	0.59671	2.574000	0.86865	0.591000	0.81541	CAG		0.662	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		4	99	4	99	---	---	---	---
FAR2	55711	broad.mit.edu	37	12	29463970	29463970	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:29463970G>T	ENST00000536681.3	+	7	1024	c.778G>T	c.(778-780)Ggg>Tgg	p.G260W	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000182377.4_Missense_Mutation_p.G260W|FAR2_ENST00000547116.1_Missense_Mutation_p.G163W	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	260					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GACTGGGAAAGGGTTTCTTCG	0.408																																						ENST00000536681.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						c.(778-780)Ggg>Tgg		fatty acyl CoA reductase 2							139.0	133.0	135.0					12																	29463970		2203	4300	6503	SO:0001583	missense	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29463970G>T	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.778G>T	12.37:g.29463970G>T	ENSP00000443291:p.Gly260Trp					RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Missense_Mutation_p.G163W|FAR2_ENST00000182377.4_Missense_Mutation_p.G260W	p.G260W	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN			7	1024	+								F8VV73|Q9H0D5|Q9NVW8	Missense_Mutation	SNP	ENST00000536681.3	37	c.778G>T	CCDS8717.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977265	0.74360	.	.	ENSG00000064763	ENST00000536681;ENST00000182377;ENST00000547116	T;T;T	0.31510	1.49;1.49;1.49	4.38	4.38	0.52667	Male sterility, NAD-binding (1);	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74589	-0.3615	10	0.87932	D	0	-1.9082	12.6448	0.56728	0.0:0.0:1.0:0.0	.	260	Q96K12	FACR2_HUMAN	W	260;260;163	ENSP00000443291:G260W;ENSP00000182377:G260W;ENSP00000449349:G163W	ENSP00000182377:G260W	G	+	1	0	FAR2	29355237	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.073000	0.93992	2.426000	0.82243	0.655000	0.94253	GGG		0.408	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		5	226	5	226	---	---	---	---
OVCH1	341350	broad.mit.edu	37	12	29614858	29614858	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:29614858G>T	ENST00000318184.5	-	19	2208	c.2209C>A	c.(2209-2211)Cat>Aat	p.H737N	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	737	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCTCCTGGATGGGCAGAATAG	0.458																																						ENST00000318184.5																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92						c.(2209-2211)Cat>Aat		ovochymase 1							144.0	140.0	141.0					12																	29614858		1950	4175	6125	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29614858G>T	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.2209C>A	12.37:g.29614858G>T	ENSP00000326708:p.His737Asn					OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	p.H737N	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN			19	2208	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		737			Peptidase S1 2.			Missense_Mutation	SNP	ENST00000318184.5	37	c.2209C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.69|12.69	2.013269|2.013269	0.35511|0.35511	.|.	.|.	ENSG00000187950|ENSG00000257599	ENST00000318184|ENST00000550906	D|.	0.88046|.	-2.33|.	2.82|2.82	2.82|2.82	0.32997|0.32997	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	.|.	.|.	.|.	.|.	T|T	0.19886|0.19886	0.0478|0.0478	N|N	0.05259|0.05259	-0.085|-0.085	0.09310|0.09310	N|N	1|1	D|.	0.63046|.	0.992|.	P|.	0.61658|.	0.892|.	T|T	0.15983|0.15983	-1.0418|-1.0418	9|5	0.39692|.	T|.	0.17|.	.|.	11.8519|11.8519	0.52415|0.52415	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	737|.	Q7RTY7|.	OVCH1_HUMAN|.	N|L	737|103	ENSP00000326708:H737N|.	ENSP00000326708:H737N|.	H|W	-|+	1|2	0|0	OVCH1|RP11-677C1.2	29506125|29506125	0.958000|0.958000	0.32768|0.32768	0.055000|0.055000	0.19348|0.19348	0.110000|0.110000	0.19582|0.19582	2.786000|2.786000	0.47790|0.47790	1.906000|1.906000	0.55180|0.55180	0.655000|0.655000	0.94253|0.94253	CAT|TGG		0.458	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		5	226	5	226	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43847793	43847793	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:43847793C>A	ENST00000389420.3	-	12	1676	c.1677G>T	c.(1675-1677)tgG>tgT	p.W559C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W559C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	559	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CCCATGGTCCCCATTCACCAT	0.413																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1675-1677)tgG>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 20							119.0	96.0	104.0					12																	43847793		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43847793C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1677G>T	12.37:g.43847793C>A	ENSP00000374071:p.Trp559Cys					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.W559C	p.W559C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	12	1676	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	559			TSP type-1 1.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1677G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186389	0.78789	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.62788	0.0;0.0	4.77	4.77	0.60923	.	0.147161	0.32068	N	0.006634	D	0.89111	0.6622	H	0.99764	4.76	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94161	0.7414	10	0.87932	D	0	.	18.6648	0.91485	0.0:1.0:0.0:0.0	.	559	P59510	ATS20_HUMAN	C	559	ENSP00000374071:W559C;ENSP00000448341:W559C	ENSP00000374068:W559C	W	-	3	0	ADAMTS20	42134060	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.196000	0.77805	2.586000	0.87340	0.585000	0.79938	TGG		0.413	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	44	4	44	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49415605	49415605	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:49415605G>T	ENST00000301067.7	-	54	16571	c.16572C>A	c.(16570-16572)ccC>ccA	p.P5524P	RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000548065.1_5'Flank|RP11-386G11.5_ENST00000552933.1_RNA	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5524	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				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)										CACAGTGGCAGGGGATCTTGT	0.507																																						ENST00000301067.7																			0											c.(16570-16572)ccC>ccA		lysine (K)-specific methyltransferase 2D							80.0	78.0	79.0					12																	49415605		1954	4156	6110	SO:0001819	synonymous_variant	8085							g.chr12:49415605G>T	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.16572C>A	12.37:g.49415605G>T							p.P5524P	NM_003482.3	NP_003473.3					54	16571	-								O14687	Silent	SNP	ENST00000301067.7	37	c.16572C>A	CCDS44873.1																																																																																				0.507	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			4	96	4	96	---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51126155	51126155	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:51126155G>T	ENST00000301180.5	+	32	3851	c.3817G>T	c.(3817-3819)Ggg>Tgg	p.G1273W		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1273						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GCAGACCAGAGGGATCAACCT	0.537																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(3817-3819)Ggg>Tgg		DIP2 disco-interacting protein 2 homolog B (Drosophila)							88.0	81.0	83.0					12																	51126155		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51126155G>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.3817G>T	12.37:g.51126155G>T	ENSP00000301180:p.Gly1273Trp						p.G1273W	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			32	3851	+			1273					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.3817G>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293399	0.80914	.	.	ENSG00000066084	ENST00000301180	T	0.42900	0.96	4.54	4.54	0.55810	AMP-dependent synthetase/ligase (1);	0.099975	0.64402	D	0.000001	T	0.66137	0.2759	M	0.74647	2.275	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.70048	-0.4979	10	0.87932	D	0	-15.6539	18.6106	0.91284	0.0:0.0:1.0:0.0	.	1273	Q9P265	DIP2B_HUMAN	W	1273	ENSP00000301180:G1273W	ENSP00000301180:G1273W	G	+	1	0	DIP2B	49412422	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.728000	0.84847	2.805000	0.96524	0.655000	0.94253	GGG		0.537	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		5	183	5	183	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52145217	52145217	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:52145217C>A	ENST00000354534.6	+	14	2388	c.2210C>A	c.(2209-2211)cCc>cAc	p.P737H	SCN8A_ENST00000550891.1_Missense_Mutation_p.P737H|SCN8A_ENST00000545061.1_Missense_Mutation_p.P737H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	737					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GAGTGCCACCCCTACTGGATA	0.428																																						ENST00000354534.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2209-2211)cCc>cAc		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						197.0	184.0	188.0					12																	52145217		1925	4141	6066	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52145217C>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2210C>A	12.37:g.52145217C>A	ENSP00000346534:p.Pro737His					SCN8A_ENST00000550891.1_Missense_Mutation_p.P737H|SCN8A_ENST00000545061.1_Missense_Mutation_p.P737H	p.P737H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	14	2388	+								B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2210C>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596738	0.86953	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.96587	-4.06;-4.04;-4.04;-3.94	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.85462	2.755	0.80722	D	1	D;D;D	0.71674	0.996;0.998;0.996	D;D;P	0.66716	0.946;0.924;0.805	D	0.98657	1.0682	10	0.66056	D	0.02	.	18.6671	0.91495	0.0:1.0:0.0:0.0	.	737;737;737	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	H	737;737;737;737;650	ENSP00000448415:P737H;ENSP00000346534:P737H;ENSP00000440360:P737H;ENSP00000347255:P737H	ENSP00000346534:P737H	P	+	2	0	SCN8A	50431484	0.999000	0.42202	1.000000	0.80357	0.989000	0.77384	5.902000	0.69869	2.727000	0.93392	0.650000	0.86243	CCC		0.428	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		6	279	6	279	---	---	---	---
AAAS	8086	broad.mit.edu	37	12	53709129	53709129	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:53709129G>T	ENST00000209873.4	-	4	554	c.389C>A	c.(388-390)cCc>cAc	p.P130H	AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000394384.3_Missense_Mutation_p.P130H|AAAS_ENST00000550286.1_Intron	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	130					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGACAGATGGGGGAACAGGGA	0.582																																						ENST00000209873.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						c.(388-390)cCc>cAc		achalasia, adrenocortical insufficiency, alacrimia							53.0	51.0	52.0					12																	53709129		2203	4300	6503	SO:0001583	missense	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53709129G>T	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.389C>A	12.37:g.53709129G>T	ENSP00000209873:p.Pro130His					AAAS_ENST00000394384.3_Missense_Mutation_p.P130H|AAAS_ENST00000549983.1_5'UTR|AAAS_ENST00000550286.1_Intron	p.P130H	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN			4	554	-			130					Q5JB47|Q9NWI6|Q9UG19	Missense_Mutation	SNP	ENST00000209873.4	37	c.389C>A	CCDS8856.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294399	0.81025	.	.	ENSG00000094914	ENST00000209873;ENST00000394384;ENST00000547757;ENST00000552161	D;D;T	0.86366	-2.08;-2.11;-1.4	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.91971	0.7457	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.92566	0.6062	10	0.72032	D	0.01	-22.4025	15.0919	0.72201	0.0:0.0:1.0:0.0	.	130;130	Q5JB47;Q9NRG9	.;AAAS_HUMAN	H	130	ENSP00000209873:P130H;ENSP00000377908:P130H;ENSP00000448020:P130H	ENSP00000209873:P130H	P	-	2	0	AAAS	51995396	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.317000	0.89987	2.530000	0.85305	0.643000	0.83706	CCC		0.582	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1			4	50	4	50	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53876438	53876438	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:53876438C>A	ENST00000267079.2	-	12	2275	c.2050G>T	c.(2050-2052)Ggg>Tgg	p.G684W	MAP3K12_ENST00000547035.1_Missense_Mutation_p.G717W|MAP3K12_ENST00000547488.1_Missense_Mutation_p.G717W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	684					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCTGAGGTCCCTTCCCTTCCA	0.637																																						ENST00000267079.2																			0				NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						c.(2050-2052)Ggg>Tgg		mitogen-activated protein kinase kinase kinase 12							77.0	86.0	83.0					12																	53876438		2202	4298	6500	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53876438C>A	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.2050G>T	12.37:g.53876438C>A	ENSP00000267079:p.Gly684Trp					MAP3K12_ENST00000547035.1_Missense_Mutation_p.G717W|MAP3K12_ENST00000547488.1_Missense_Mutation_p.G717W	p.G684W	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN			12	2275	-			684					B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.2050G>T	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267599	0.40095	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.75938	-0.98;-0.98;-0.98	4.14	4.14	0.48551	.	0.000000	0.43919	D	0.000509	T	0.71367	0.3331	N	0.08118	0	0.45899	D	0.998744	D;D	0.63046	0.992;0.987	D;P	0.65773	0.938;0.868	T	0.76796	-0.2827	10	0.59425	D	0.04	.	14.3432	0.66641	0.0:1.0:0.0:0.0	.	717;684	G3V1Y2;Q12852	.;M3K12_HUMAN	W	684;717;717	ENSP00000267079:G684W;ENSP00000449038:G717W;ENSP00000448689:G717W	ENSP00000267079:G684W	G	-	1	0	MAP3K12	52162705	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.245000	0.32790	2.604000	0.88044	0.491000	0.48974	GGG		0.637	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		6	261	6	261	---	---	---	---
CBX5	23468	broad.mit.edu	37	12	54639979	54639979	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:54639979C>A	ENST00000439541.2	-	4	470	c.345G>T	c.(343-345)cgG>cgT	p.R115R	CBX5_ENST00000209875.4_Silent_p.R115R|CBX5_ENST00000550411.1_Silent_p.R115R	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	115					blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						TCTCAAAGCCCCGAGCGATAT	0.413																																					Colon(153;588 2459 18334 48613)	ENST00000209875.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						c.(343-345)cgG>cgT		chromobox homolog 5							163.0	149.0	154.0					12																	54639979		2203	4300	6503	SO:0001819	synonymous_variant	23468				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding	g.chr12:54639979C>A	U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.345G>T	12.37:g.54639979C>A						CBX5_ENST00000550411.1_Silent_p.R115R|CBX5_ENST00000439541.2_Silent_p.R115R	p.R115R	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN			4	481	-			115					B2R8T9	Silent	SNP	ENST00000439541.2	37	c.345G>T	CCDS8875.1																																																																																				0.413	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405468.1	NM_012117		7	371	7	371	---	---	---	---
OR6C1	390321	broad.mit.edu	37	12	55715238	55715238	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:55715238C>A	ENST00000379668.2	+	1	893	c.855C>A	c.(853-855)ccC>ccA	p.P285P		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	285						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGATGAACCCCTTTATTTACA	0.408																																						ENST00000379668.2																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(853-855)ccC>ccA		olfactory receptor, family 6, subfamily C, member 1							141.0	136.0	138.0					12																	55715238		2203	4300	6503	SO:0001819	synonymous_variant	390321				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55715238C>A	AF399506	CCDS31818.1	12q13.13	2012-08-09			ENSG00000205330	ENSG00000205330		"""GPCR / Class A : Olfactory receptors"""	8355	protein-coding gene	gene with protein product							Standard	NM_001005182		Approved	OST267	uc010spi.2	Q96RD1	OTTHUMG00000168102	ENST00000379668.2:c.855C>A	12.37:g.55715238C>A							p.P285P	NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN			1	893	+			285					B2RNM0	Silent	SNP	ENST00000379668.2	37	c.855C>A	CCDS31818.1																																																																																				0.408	OR6C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398152.1	NM_001005182		6	335	6	335	---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945163	55945163	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:55945163C>A	ENST00000394256.2	+	1	181	c.153C>A	c.(151-153)ccC>ccA	p.P51P	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TACTAGACCCCCACCTCCAGA	0.418																																						ENST00000394256.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(151-153)ccC>ccA		olfactory receptor, family 6, subfamily C, member 4							175.0	176.0	176.0					12																	55945163		2203	4300	6503	SO:0001819	synonymous_variant	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945163C>A	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.153C>A	12.37:g.55945163C>A						RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	p.P51P	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN			1	181	+			51					A8MZG7|B2RNN2|Q6IFK1	Silent	SNP	ENST00000394256.2	37	c.153C>A	CCDS31827.1																																																																																				0.418	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			9	596	9	596	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56525301	56525301	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56525301G>T	ENST00000394048.5	+	6	1019	c.755G>T	c.(754-756)gGg>gTg	p.G252V	ESYT1_ENST00000541590.1_Missense_Mutation_p.G252V|RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000267113.4_Missense_Mutation_p.G252V	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	252	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.G252V(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCACTCATTGGGGACCTTCCC	0.527																																						ENST00000394048.5																			1	Substitution - Missense(1)	p.G252V(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(754-756)gGg>gTg		extended synaptotagmin-like protein 1							184.0	189.0	187.0					12																	56525301		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56525301G>T	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.755G>T	12.37:g.56525301G>T	ENSP00000377612:p.Gly252Val					ESYT1_ENST00000267113.4_Missense_Mutation_p.G252V|ESYT1_ENST00000541590.1_Missense_Mutation_p.G252V	p.G252V	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			6	1019	+			252					A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.755G>T	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.181815	0.78677	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.79940	-1.32;-1.32;-1.32	5.78	5.78	0.91487	.	0.099468	0.64402	D	0.000002	D	0.86255	0.5889	L	0.42245	1.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.82671	-0.0342	10	0.29301	T	0.29	-26.3982	19.1723	0.93583	0.0:0.0:1.0:0.0	.	252;252	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	V	252;206;252;252	ENSP00000377612:G252V;ENSP00000267113:G252V;ENSP00000445952:G252V	ENSP00000267113:G252V	G	+	2	0	ESYT1	54811568	1.000000	0.71417	0.995000	0.50966	0.402000	0.30811	6.032000	0.70918	2.906000	0.99361	0.655000	0.94253	GGG		0.527	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		7	405	7	405	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56527607	56527607	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56527607C>A	ENST00000394048.5	+	13	1687	c.1423C>A	c.(1423-1425)Ccg>Acg	p.P475T	ESYT1_ENST00000541590.1_Missense_Mutation_p.P475T|ESYT1_ENST00000267113.4_Missense_Mutation_p.P475T	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	475	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						ACCAGATCCCCCGTCAGCTGC	0.567																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(1423-1425)Ccg>Acg		extended synaptotagmin-like protein 1							116.0	110.0	112.0					12																	56527607		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56527607C>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1423C>A	12.37:g.56527607C>A	ENSP00000377612:p.Pro475Thr					ESYT1_ENST00000267113.4_Missense_Mutation_p.P475T|ESYT1_ENST00000541590.1_Missense_Mutation_p.P475T	p.P475T	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			13	1687	+			475			C2 2.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.1423C>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003590	0.74932	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.58060	0.36;0.5;0.5	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.70971	0.3285	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.65191	-0.6228	10	0.21014	T	0.42	-13.4652	18.3113	0.90201	0.0:1.0:0.0:0.0	.	475;475	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	T	475;429;475;475	ENSP00000377612:P475T;ENSP00000267113:P475T;ENSP00000445952:P475T	ENSP00000267113:P475T	P	+	1	0	ESYT1	54813874	0.996000	0.38824	1.000000	0.80357	0.896000	0.52359	6.383000	0.73172	2.699000	0.92147	0.563000	0.77884	CCG		0.567	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		5	189	5	189	---	---	---	---
ESYT1	23344	broad.mit.edu	37	12	56531371	56531371	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56531371C>A	ENST00000394048.5	+	18	2291	c.2027C>A	c.(2026-2028)cCc>cAc	p.P676H	ESYT1_ENST00000541590.1_Missense_Mutation_p.P686H|ESYT1_ENST00000267113.4_Missense_Mutation_p.P686H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	676	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAGTCAGACCCCTATGTCAAA	0.512																																						ENST00000394048.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						c.(2026-2028)cCc>cAc		extended synaptotagmin-like protein 1							140.0	144.0	143.0					12																	56531371		2203	4300	6503	SO:0001583	missense	23344					integral to membrane		g.chr12:56531371C>A	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2027C>A	12.37:g.56531371C>A	ENSP00000377612:p.Pro676His					ESYT1_ENST00000267113.4_Missense_Mutation_p.P686H|ESYT1_ENST00000541590.1_Missense_Mutation_p.P686H	p.P676H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN			18	2291	+			676			C2 3.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	c.2027C>A	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873037	0.91664	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.78003	-1.14;-1.14;-1.14	5.22	5.22	0.72569	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.219021	0.47852	D	0.000219	D	0.93549	0.7941	H	0.99273	4.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96169	0.9121	10	0.87932	D	0	-17.1023	17.9354	0.89011	0.0:1.0:0.0:0.0	.	686;676	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	H	676;630;686;686	ENSP00000377612:P676H;ENSP00000267113:P686H;ENSP00000445952:P686H	ENSP00000267113:P686H	P	+	2	0	ESYT1	54817638	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.418000	0.80167	2.608000	0.88229	0.655000	0.94253	CCC		0.512	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292		7	332	7	332	---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56743919	56743919	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56743919C>A	ENST00000314128.4	-	13	1194	c.1171G>T	c.(1171-1173)Ggg>Tgg	p.G391W	STAT2_ENST00000418572.2_Missense_Mutation_p.G387W|STAT2_ENST00000556539.1_5'Flank|STAT2_ENST00000557235.1_Missense_Mutation_p.G387W|RNU7-40P_ENST00000516397.1_RNA			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	391					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TGACTCTGCCCCTTCTCGGGG	0.408																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1171-1173)Ggg>Tgg		signal transducer and activator of transcription 2, 113kDa							101.0	110.0	107.0					12																	56743919		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56743919C>A	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1171G>T	12.37:g.56743919C>A	ENSP00000315768:p.Gly391Trp					STAT2_ENST00000557235.1_Missense_Mutation_p.G387W|STAT2_ENST00000418572.2_Missense_Mutation_p.G387W	p.G391W			P52630	STAT2_HUMAN			13	1194	-			391					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.1171G>T	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069181	0.55539	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	D;D;D	0.87729	-2.29;-2.29;-2.29	5.36	3.52	0.40303	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.106814	0.64402	D	0.000009	D	0.89181	0.6642	L	0.56769	1.78	0.21915	N	0.999478	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.994;0.936;0.998	T	0.79838	-0.1634	10	0.87932	D	0	-21.9831	2.2727	0.04095	0.157:0.5237:0.1518:0.1675	.	387;387;391	B4DLC8;G3V2M6;P52630	.;.;STAT2_HUMAN	W	391;387;193;387	ENSP00000315768:G391W;ENSP00000450751:G387W;ENSP00000387354:G387W	ENSP00000315768:G391W	G	-	1	0	STAT2	55030186	0.235000	0.23794	0.211000	0.23655	0.997000	0.91878	1.749000	0.38319	1.403000	0.46800	0.563000	0.77884	GGG		0.408	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		6	271	6	271	---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	56997322	56997322	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:56997322C>A	ENST00000551812.1	-	17	3400	c.3207G>T	c.(3205-3207)agG>agT	p.R1069S	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1039S|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1067S|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1037S	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1069					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CTCTTCGACCCCTGCGGCCAG	0.493																																						ENST00000179765.5																			0				breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						c.(3109-3111)agG>agT		bromodomain adjacent to zinc finger domain, 2A							123.0	129.0	127.0					12																	56997322		2030	4153	6183	SO:0001583	missense	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:56997322C>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.3207G>T	12.37:g.56997322C>A	ENSP00000446880:p.Arg1069Ser					BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1067S|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1039S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R1069S	p.R1037S			Q9UIF9	BAZ2A_HUMAN			18	3310	-			1069					B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	37	c.3111G>T	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184578	0.57909	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.71934	-0.23;-0.23;-0.25;-0.61;-0.25	5.2	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.64416	0.2596	L	0.29908	0.895	0.31883	N	0.618145	D;D;P	0.54964	0.969;0.969;0.948	P;P;P	0.53313	0.723;0.654;0.533	T	0.64803	-0.6321	10	0.22706	T	0.39	.	8.7547	0.34639	0.0:0.8463:0.0:0.1537	.	1067;1069;1069	F8VU39;Q9UIF9-3;Q9UIF9	.;.;BAZ2A_HUMAN	S	1039;1037;1069;5;1067	ENSP00000368754:R1039S;ENSP00000179765:R1037S;ENSP00000446880:R1069S;ENSP00000448760:R5S;ENSP00000447941:R1067S	ENSP00000179765:R1037S	R	-	3	2	BAZ2A	55283589	0.000000	0.05858	1.000000	0.80357	0.896000	0.52359	-0.328000	0.07945	0.702000	0.31825	0.655000	0.94253	AGG		0.493	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449		7	293	7	293	---	---	---	---
NACA	4666	broad.mit.edu	37	12	57109690	57109690	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:57109690G>T	ENST00000454682.1	-	3	5905	c.5624C>A	c.(5623-5625)cCc>cAc	p.P1875H	NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P722H|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1875	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTGGCAGAGGGGGTTGGGAC	0.572			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(5623-5625)cCc>cAc		nascent polypeptide-associated complex alpha subunit							149.0	135.0	139.0					12																	57109690		1568	3582	5150	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57109690G>T	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5624C>A	12.37:g.57109690G>T	ENSP00000403817:p.Pro1875His					NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.P722H|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	p.P1875H	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	5905	-			12						Missense_Mutation	SNP	ENST00000454682.1	37	c.5624C>A		.	.	.	.	.	.	.	.	.	.	G	18.52	3.640862	0.67244	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.60548	0.47;0.18	4.23	4.23	0.50019	.	.	.	.	.	T	0.62853	0.2462	N	0.19112	0.55	0.31788	N	0.630072	D;D	0.67145	0.993;0.996	D;D	0.69824	0.964;0.966	T	0.69465	-0.5138	9	0.87932	D	0	.	15.5004	0.75695	0.0:0.0:1.0:0.0	.	1875;722	E9PAV3;F8VU71	.;.	H	1875;722	ENSP00000403817:P1875H;ENSP00000448035:P722H	ENSP00000403817:P1875H	P	-	2	0	NACA	55395957	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.177000	0.71961	2.180000	0.69256	0.484000	0.47621	CCC		0.572	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		6	174	6	174	---	---	---	---
INHBE	83729	broad.mit.edu	37	12	57849951	57849951	+	Missense_Mutation	SNP	C	C	A	rs367736143		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:57849951C>A	ENST00000266646.2	+	2	589	c.373C>A	c.(373-375)Cgc>Agc	p.R125S	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	125					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GTACCATGCCCGCCTGTGGCT	0.602											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	ENST00000266646.2																			0				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						c.(373-375)Cgc>Agc		inhibin, beta E							140.0	142.0	141.0					12																	57849951		2203	4300	6503	SO:0001583	missense	83729				growth	extracellular region	growth factor activity|hormone activity	g.chr12:57849951C>A		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.373C>A	12.37:g.57849951C>A	ENSP00000266646:p.Arg125Ser		OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1026	INHBE_ENST00000551553.1_3'UTR	p.R125S	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN			2	589	+			125						Missense_Mutation	SNP	ENST00000266646.2	37	c.373C>A	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	C	5.638	0.302342	0.10678	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	T;T	0.80566	-1.39;-0.05	4.37	4.37	0.52481	Transforming growth factor-beta, N-terminal (1);	0.192014	0.47093	D	0.000253	T	0.72732	0.3497	L	0.31157	0.91	0.26237	N	0.97892	P	0.34864	0.473	B	0.41202	0.35	T	0.60393	-0.7272	10	0.11182	T	0.66	-5.6135	14.8069	0.69962	0.0:1.0:0.0:0.0	.	125	P58166	INHBE_HUMAN	S	70;125	ENSP00000450212:R70S;ENSP00000266646:R125S	ENSP00000266646:R125S	R	+	1	0	INHBE	56136218	0.820000	0.29190	0.985000	0.45067	0.367000	0.29736	1.242000	0.32755	2.424000	0.82194	0.561000	0.74099	CGC		0.602	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479		5	245	5	245	---	---	---	---
AGAP2	116986	broad.mit.edu	37	12	58126738	58126738	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:58126738C>A	ENST00000547588.1	-	6	1573	c.1574G>T	c.(1573-1575)cGg>cTg	p.R525L	AGAP2_ENST00000257897.3_Missense_Mutation_p.R189L	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	525	G domain.				axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCCCACCACCCGAGGGGAGGA	0.547																																						ENST00000257897.3																			0				breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						c.(565-567)cGg>cTg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 2							176.0	171.0	173.0					12																	58126738		2203	4300	6503	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58126738C>A	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1574G>T	12.37:g.58126738C>A	ENSP00000449241:p.Arg525Leu					AGAP2_ENST00000547588.1_Missense_Mutation_p.R525L	p.R189L	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN			6	651	-			525			Interactions with HOMER1 and NF2 (By similarity).		A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.566G>T	CCDS44932.1	.	.	.	.	.	.	.	.	.	.	C	34	5.410019	0.96072	.	.	ENSG00000135439	ENST00000257897;ENST00000547588	T;T	0.35605	1.3;1.3	4.9	4.9	0.64082	.	0.137915	0.49916	D	0.000130	T	0.59742	0.2216	M	0.67569	2.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.997	T	0.62581	-0.6824	10	0.87932	D	0	.	17.3795	0.87401	0.0:1.0:0.0:0.0	.	189;525;525	Q99490-2;F8VVT9;Q99490	.;.;AGAP2_HUMAN	L	189;525	ENSP00000257897:R189L;ENSP00000449241:R525L	ENSP00000257897:R189L	R	-	2	0	AGAP2	56413005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.451000	0.80668	2.719000	0.93026	0.655000	0.94253	CGG		0.547	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		5	358	5	358	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71095060	71095060	+	Missense_Mutation	SNP	C	C	A	rs547690138		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:71095060C>A	ENST00000283228.2	-	7	1503	c.1051G>T	c.(1051-1053)Ggg>Tgg	p.G351W	PTPRR_ENST00000440835.2_Missense_Mutation_p.G106W|PTPRR_ENST00000378778.1_Missense_Mutation_p.G145W|PTPRR_ENST00000342084.4_Missense_Mutation_p.G239W|PTPRR_ENST00000549308.1_Missense_Mutation_p.G106W	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	351					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCAATGTTCCCCAAGCTACTC	0.428																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(1051-1053)Ggg>Tgg		protein tyrosine phosphatase, receptor type, R							131.0	114.0	119.0					12																	71095060		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71095060C>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1051G>T	12.37:g.71095060C>A	ENSP00000283228:p.Gly351Trp					PTPRR_ENST00000342084.4_Missense_Mutation_p.G239W|PTPRR_ENST00000440835.2_Missense_Mutation_p.G106W|PTPRR_ENST00000549308.1_Missense_Mutation_p.G106W|PTPRR_ENST00000378778.1_Missense_Mutation_p.G145W	p.G351W	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	7	1503	-			351					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1051G>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327023	0.81690	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.25250	3.97;3.71;3.96;3.92;3.97;1.81	5.59	5.59	0.84812	.	0.000000	0.53938	D	0.000053	T	0.54886	0.1886	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56019	-0.8048	10	0.87932	D	0	-14.6063	19.956	0.97218	0.0:1.0:0.0:0.0	.	200;239;145;351	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	W	106;351;145;239;106;106	ENSP00000391750:G106W;ENSP00000283228:G351W;ENSP00000368054:G145W;ENSP00000339605:G239W;ENSP00000446943:G106W;ENSP00000449616:G106W	ENSP00000283228:G351W	G	-	1	0	PTPRR	69381327	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	6.911000	0.75746	2.788000	0.95919	0.557000	0.71058	GGG		0.428	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		5	169	5	169	---	---	---	---
LGR5	8549	broad.mit.edu	37	12	71898436	71898436	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:71898436C>A	ENST00000266674.5	+	2	566	c.255C>A	c.(253-255)ccC>ccA	p.P85P	LGR5_ENST00000540815.2_Silent_p.P85P|LGR5_ENST00000536515.1_Silent_p.P85P			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	85					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						TCCCGAATCCCCTGCCCAGTC	0.502																																						ENST00000266674.5																		NUP107/LGR5(2)	0				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						c.(253-255)ccC>ccA		leucine-rich repeat containing G protein-coupled receptor 5							227.0	207.0	214.0					12																	71898436		2203	4300	6503	SO:0001819	synonymous_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71898436C>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.255C>A	12.37:g.71898436C>A						LGR5_ENST00000536515.1_Silent_p.P85P|LGR5_ENST00000540815.2_Silent_p.P85P	p.P85P			O75473	LGR5_HUMAN			2	566	+			85					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	ENST00000266674.5	37	c.255C>A	CCDS9000.1																																																																																				0.502	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		8	484	8	484	---	---	---	---
TRHDE	29953	broad.mit.edu	37	12	72667052	72667052	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:72667052G>T	ENST00000261180.4	+	1	590	c.494G>T	c.(493-495)gGg>gTg	p.G165V	TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA|TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	165					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACCTTCTCCGGGGAGGTCAAC	0.652																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(493-495)gGg>gTg		thyrotropin-releasing hormone degrading enzyme							65.0	65.0	65.0					12																	72667052		2203	4299	6502	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72667052G>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.494G>T	12.37:g.72667052G>T	ENSP00000261180:p.Gly165Val					TRHDE-AS1_ENST00000426250.3_RNA	p.G165V	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			1	590	+			165					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.494G>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.457111	0.84317	.	.	ENSG00000072657	ENST00000261180	T	0.14516	2.5	5.11	5.11	0.69529	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.057630	0.64402	D	0.000002	T	0.49677	0.1571	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64457	-0.6403	10	0.87932	D	0	.	17.3223	0.87239	0.0:0.0:1.0:0.0	.	165	Q9UKU6	TRHDE_HUMAN	V	165	ENSP00000261180:G165V	ENSP00000261180:G165V	G	+	2	0	TRHDE	70953319	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.244000	0.95423	2.362000	0.80069	0.514000	0.50259	GGG		0.652	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		4	78	4	78	---	---	---	---
NAP1L1	4673	broad.mit.edu	37	12	76443026	76443026	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:76443026C>A	ENST00000261182.8	-	14	1580	c.1094G>T	c.(1093-1095)gGg>gTg	p.G365V	NAP1L1_ENST00000542344.1_Missense_Mutation_p.G323V|NAP1L1_ENST00000549596.1_3'UTR|NAP1L1_ENST00000535020.2_3'UTR|NAP1L1_ENST00000393263.3_Missense_Mutation_p.G365V|NAP1L1_ENST00000547773.1_Missense_Mutation_p.G302V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.G182V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.G297V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	365	Asp/Glu-rich (acidic).				DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TTCTTCTTCCCCTTCCTATAT	0.343																																						ENST00000261182.8																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9						c.(1093-1095)gGg>gTg		nucleosome assembly protein 1-like 1							105.0	105.0	105.0					12																	76443026		2203	4300	6503	SO:0001583	missense	4673				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	g.chr12:76443026C>A		CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.1094G>T	12.37:g.76443026C>A	ENSP00000261182:p.Gly365Val					NAP1L1_ENST00000393263.3_Missense_Mutation_p.G365V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.G297V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.G182V|NAP1L1_ENST00000535020.2_3'UTR|NAP1L1_ENST00000547773.1_Missense_Mutation_p.G302V|NAP1L1_ENST00000549596.1_3'UTR|NAP1L1_ENST00000542344.1_Missense_Mutation_p.G323V	p.G365V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN			14	1580	-		Colorectal(145;0.09)	365			Asp/Glu-rich (acidic).		B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	c.1094G>T	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941554	0.53079	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344	T;T;T;T;T;T;T	0.37058	1.47;1.47;1.47;1.22;1.48;1.52;1.48	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.60560	0.2278	M	0.68593	2.085	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.718;1.0	D;D;B;D	0.83275	0.994;0.994;0.277;0.996	T	0.50004	-0.8878	10	0.27785	T	0.31	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	323;297;302;365	B7Z9C2;B3KV44;F8W543;P55209	.;.;.;NP1L1_HUMAN	V	365;359;365;297;302;182;323	ENSP00000261182:G365V;ENSP00000450236:G359V;ENSP00000376947:G365V;ENSP00000409795:G297V;ENSP00000448167:G302V;ENSP00000437507:G182V;ENSP00000444759:G323V	ENSP00000261182:G365V	G	-	2	0	NAP1L1	74729293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.245000	0.78237	2.835000	0.97688	0.650000	0.86243	GGG		0.343	NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207		6	171	6	171	---	---	---	---
ZDHHC17	23390	broad.mit.edu	37	12	77222206	77222206	+	Silent	SNP	C	C	A	rs200268928	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:77222206C>A	ENST00000426126.2	+	10	1726	c.1077C>A	c.(1075-1077)ccC>ccA	p.P359P	ZDHHC17_ENST00000334822.5_Silent_p.P359P	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	359					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GTGCATTGCCCCTTGGGATAT	0.313																																						ENST00000426126.2																			0				breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						c.(1075-1077)ccC>ccA		zinc finger, DHHC-type containing 17							303.0	287.0	292.0					12																	77222206		1834	4079	5913	SO:0001819	synonymous_variant	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77222206C>A	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.1077C>A	12.37:g.77222206C>A						ZDHHC17_ENST00000334822.5_Silent_p.P359P	p.P359P	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN			10	1726	+			359					B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Silent	SNP	ENST00000426126.2	37	c.1077C>A	CCDS44946.1																																																																																				0.313	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		9	678	9	678	---	---	---	---
SYT1	6857	broad.mit.edu	37	12	79837937	79837937	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:79837937C>A	ENST00000261205.4	+	10	1670	c.1013C>A	c.(1012-1014)cCc>cAc	p.P338H	SYT1_ENST00000457153.2_Missense_Mutation_p.P335H|SYT1_ENST00000552744.1_Missense_Mutation_p.P338H|SYT1_ENST00000393240.3_Missense_Mutation_p.P338H|RP1-78O14.1_ENST00000550268.1_lincRNA	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	338	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACACTTAACCCCTACTACAAT	0.363																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(1012-1014)cCc>cAc		synaptotagmin I							182.0	164.0	171.0					12																	79837937		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79837937C>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.1013C>A	12.37:g.79837937C>A	ENSP00000261205:p.Pro338His					SYT1_ENST00000393240.3_Missense_Mutation_p.P338H|SYT1_ENST00000552744.1_Missense_Mutation_p.P338H|SYT1_ENST00000457153.2_Missense_Mutation_p.P335H|RP1-78O14.1_ENST00000550268.1_lincRNA	p.P338H	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			10	1670	+			338			C2 2.|Phospholipid binding (Probable).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.1013C>A	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871653	0.91587	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744	D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15	5.45	5.45	0.79879	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.98498	0.9499	H	0.99404	4.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99694	1.1002	10	0.87932	D	0	.	19.2881	0.94087	0.0:1.0:0.0:0.0	.	338;338	Q6AI31;P21579	.;SYT1_HUMAN	H	338;338;335;338	ENSP00000376932:P338H;ENSP00000261205:P338H;ENSP00000391056:P335H;ENSP00000447575:P338H	ENSP00000261205:P338H	P	+	2	0	SYT1	78362068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.567000	0.86603	0.655000	0.94253	CCC		0.363	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		6	326	6	326	---	---	---	---
CCER1	196477	broad.mit.edu	37	12	91347703	91347703	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:91347703G>T	ENST00000358859.2	-	1	1250	c.817C>A	c.(817-819)Ccg>Acg	p.P273T	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	273	Glu-rich.																accAGCAGCGGGGCAAGAGAC	0.522																																						ENST00000358859.2																			0											c.(817-819)Ccg>Acg		coiled-coil glutamate-rich protein 1							230.0	250.0	243.0					12																	91347703		2203	4300	6503	SO:0001583	missense	196477							g.chr12:91347703G>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.817C>A	12.37:g.91347703G>T	ENSP00000351727:p.Pro273Thr					CCER1_ENST00000548187.1_Intron	p.P273T	NM_152638.2	NP_689851.1					1	1250	-								Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.817C>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	8.326	0.825317	0.16749	.	.	ENSG00000197651	ENST00000358859	T	0.25912	1.77	4.13	-0.00439	0.14022	.	0.502546	0.14986	N	0.286931	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	B	0.29432	0.244	B	0.27076	0.076	T	0.18967	-1.0320	10	0.45353	T	0.12	-3.5725	3.1536	0.06497	0.0975:0.3237:0.4126:0.1662	.	273	Q8TC90	CL012_HUMAN	T	273	ENSP00000351727:P273T	ENSP00000351727:P273T	P	-	1	0	C12orf12	89871834	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.003000	0.13083	-0.107000	0.12088	0.467000	0.42956	CCG		0.522	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		8	587	8	587	---	---	---	---
SLC25A3	5250	broad.mit.edu	37	12	98989599	98989599	+	Intron	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:98989599C>A	ENST00000228318.3	+	3	402				SLC25A3_ENST00000551917.1_Intron|SLC25A3_ENST00000188376.5_Silent_p.P84P|SLC25A3_ENST00000548847.1_Silent_p.P84P|SLC25A3_ENST00000401722.3_Silent_p.P84P|SLC25A3_ENST00000552981.1_Silent_p.P84P|SLC25A3_ENST00000547534.1_Silent_p.P84P|SLC25A3_ENST00000549338.1_Silent_p.P84P	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3						generation of precursor metabolites and energy (GO:0006091)|phosphate ion transmembrane transport (GO:0035435)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	phosphate ion carrier activity (GO:0015320)|protein complex binding (GO:0032403)|symporter activity (GO:0015293)			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		CTGTGGTTCCCCTGGATTTAG	0.408																																						ENST00000188376.5																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16						c.(250-252)ccC>ccA		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3							179.0	167.0	171.0					12																	98989599		2203	4300	6503	SO:0001627	intron_variant	5250				generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	g.chr12:98989599C>A		CCDS9065.1, CCDS9066.1	12q23.1	2013-05-22			ENSG00000075415	ENSG00000075415		"""Solute carriers"""	10989	protein-coding gene	gene with protein product		600370		PHC		8168843	Standard	NM_213611		Approved		uc001tfo.3	Q00325	OTTHUMG00000170212	ENST00000228318.3:c.282+264C>A	12.37:g.98989599C>A						SLC25A3_ENST00000548847.1_Silent_p.P84P|SLC25A3_ENST00000228318.3_Intron|SLC25A3_ENST00000549338.1_Silent_p.P84P|SLC25A3_ENST00000401722.3_Silent_p.P84P|SLC25A3_ENST00000551917.1_Intron|SLC25A3_ENST00000552981.1_Silent_p.P84P|SLC25A3_ENST00000547534.1_Silent_p.P84P	p.P84P	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)	2	606	+		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)	85					B3KS34|Q7Z7N7|Q96A03	Silent	SNP	ENST00000228318.3	37	c.252C>A	CCDS9066.1																																																																																				0.408	SLC25A3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407989.1	NM_005888		7	203	7	203	---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102158274	102158274	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:102158274G>T	ENST00000299314.7	-	13	2683	c.2421C>A	c.(2419-2421)ccC>ccA	p.P807P	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	807	DMAP-interaction.				carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCAAGTCCAGGGGTGGATTCT	0.458																																						ENST00000299314.7																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						c.(2419-2421)ccC>ccA		N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits							130.0	131.0	130.0					12																	102158274		2203	4300	6503	SO:0001819	synonymous_variant	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158274G>T	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2421C>A	12.37:g.102158274G>T							p.P807P	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN			13	2683	-			807					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	ENST00000299314.7	37	c.2421C>A	CCDS9088.1																																																																																				0.458	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			7	323	7	323	---	---	---	---
NUP37	79023	broad.mit.edu	37	12	102512208	102512208	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:102512208C>A	ENST00000552283.1	-	2	228	c.89G>T	c.(88-90)gGg>gTg	p.G30V	PARPBP_ENST00000358383.5_5'Flank|PARPBP_ENST00000541394.1_5'Flank|PARPBP_ENST00000543784.1_5'Flank|PARPBP_ENST00000392911.2_5'Flank|NUP37_ENST00000543021.1_5'UTR|PARPBP_ENST00000327680.2_5'Flank|PARPBP_ENST00000537257.1_5'Flank|NUP37_ENST00000251074.1_Missense_Mutation_p.G30V|PARPBP_ENST00000378128.3_5'Flank			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	30					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						TCCTGAATCCCCATTCTCAAA	0.408																																						ENST00000552283.1																			0				endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						c.(88-90)gGg>gTg		nucleoporin 37kDa							237.0	212.0	221.0					12																	102512208		2203	4300	6503	SO:0001583	missense	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102512208C>A	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.89G>T	12.37:g.102512208C>A	ENSP00000448054:p.Gly30Val					NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.G30V	p.G30V			Q8NFH4	NUP37_HUMAN			2	228	-			30					Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.89G>T	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409171	0.83340	.	.	ENSG00000075188	ENST00000552283;ENST00000251074;ENST00000551744;ENST00000550459	T;T	0.69926	-0.44;-0.44	5.24	5.24	0.73138	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82332	0.5014	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	D	0.84128	0.0410	10	0.66056	D	0.02	-12.0063	18.8164	0.92079	0.0:1.0:0.0:0.0	.	30;30	B4DKV8;Q8NFH4	.;NUP37_HUMAN	V	30	ENSP00000448054:G30V;ENSP00000251074:G30V	ENSP00000251074:G30V	G	-	2	0	NUP37	101036338	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.989000	0.76219	2.446000	0.82766	0.650000	0.86243	GGG		0.408	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		6	328	6	328	---	---	---	---
SART3	9733	broad.mit.edu	37	12	108931915	108931915	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:108931915G>T	ENST00000228284.3	-	8	1361	c.1127C>A	c.(1126-1128)cCc>cAc	p.P376H	SART3_ENST00000431469.2_Missense_Mutation_p.P376H	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	376					cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						AACTGTCCAGGGGCAGTTTCT	0.418									Porokeratosis																													ENST00000228284.3																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						c.(1126-1128)cCc>cAc		squamous cell carcinoma antigen recognized by T cells 3							118.0	118.0	118.0					12																	108931915		2203	4300	6503	SO:0001583	missense	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108931915G>T	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1127C>A	12.37:g.108931915G>T	ENSP00000228284:p.Pro376His					SART3_ENST00000431469.2_Missense_Mutation_p.P376H	p.P376H	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN			8	1361	-			376					A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Missense_Mutation	SNP	ENST00000228284.3	37	c.1127C>A	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	G	33	5.236341	0.95240	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000412617;ENST00000546815	T;T;T	0.34859	1.34;1.34;1.34	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.70343	0.3213	M	0.89715	3.055	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74237	-0.3730	10	0.87932	D	0	-23.2788	20.8598	0.99761	0.0:0.0:1.0:0.0	.	324;394;376;376	E7EMI4;F8VV04;B7ZKM0;Q15020	.;.;.;SART3_HUMAN	H	376;376;324;394	ENSP00000228284:P376H;ENSP00000414453:P376H;ENSP00000449386:P394H	ENSP00000228284:P376H	P	-	2	0	SART3	107456045	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.294000	0.96088	2.937000	0.99478	0.650000	0.86243	CCC		0.418	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1			7	196	7	196	---	---	---	---
USP30	84749	broad.mit.edu	37	12	109522779	109522779	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:109522779C>A	ENST00000257548.5	+	12	1283	c.1190C>A	c.(1189-1191)cCc>cAc	p.P397H	USP30_ENST00000392784.2_Missense_Mutation_p.P366H	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	397	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCAGGGGCCCCCAAAACACAG	0.493																																						ENST00000257548.5																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(1189-1191)cCc>cAc		ubiquitin specific peptidase 30							128.0	149.0	142.0					12																	109522779		2203	4300	6503	SO:0001583	missense	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109522779C>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.1190C>A	12.37:g.109522779C>A	ENSP00000257548:p.Pro397His					USP30_ENST00000392784.2_Missense_Mutation_p.P366H	p.P397H	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN			12	1283	+			397					Q8WTU7|Q96JX4|Q9BSS3	Missense_Mutation	SNP	ENST00000257548.5	37	c.1190C>A	CCDS9123.2	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868896	0.72065	.	.	ENSG00000135093	ENST00000392784;ENST00000257548	T;T	0.73681	-0.77;-0.77	5.5	4.6	0.57074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.431594	0.28442	N	0.015327	T	0.75273	0.3827	L	0.43923	1.385	0.32456	N	0.544724	P;P	0.48089	0.905;0.873	P;P	0.52267	0.587;0.694	T	0.81573	-0.0871	10	0.66056	D	0.02	-33.3489	12.3659	0.55228	0.0:0.8304:0.1696:0.0	.	397;366	Q70CQ3;B3KUS5	UBP30_HUMAN;.	H	366;397	ENSP00000376535:P366H;ENSP00000257548:P397H	ENSP00000257548:P397H	P	+	2	0	USP30	108007162	0.736000	0.28164	0.984000	0.44739	0.997000	0.91878	2.657000	0.46724	1.303000	0.44873	0.650000	0.86243	CCC		0.493	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663		8	546	8	546	---	---	---	---
ATP2A2	488	broad.mit.edu	37	12	110771909	110771909	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:110771909G>T	ENST00000539276.2	+	11	1489	c.1380G>T	c.(1378-1380)aaG>aaT	p.K460N	ATP2A2_ENST00000395494.2_Missense_Mutation_p.K433N|ATP2A2_ENST00000308664.6_Missense_Mutation_p.K460N			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	460					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCGAATTGAAGGGTCTTTCTA	0.388																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(1297-1299)aaG>aaT		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							173.0	173.0	173.0					12																	110771909		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110771909G>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.1380G>T	12.37:g.110771909G>T	ENSP00000440045:p.Lys460Asn					ATP2A2_ENST00000308664.6_Missense_Mutation_p.K460N|ATP2A2_ENST00000539276.2_Missense_Mutation_p.K460N	p.K433N			P16615	AT2A2_HUMAN			10	1862	+			460					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.1299G>T	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.84|11.84	1.758021|1.758021	0.31137|0.31137	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	.|D;D;D	.|0.82984	.|-1.67;-1.67;-1.67	6.11|6.11	1.83|1.83	0.25207|0.25207	.|ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.209202	.|0.53938	.|D	.|0.000053	T|T	0.56615|0.56615	0.1997|0.1997	N|N	0.03917|0.03917	-0.325|-0.325	0.40938|0.40938	D|D	0.984442|0.984442	.|B;B;B	.|0.06786	.|0.001;0.001;0.001	.|B;B;B	.|0.12837	.|0.005;0.003;0.008	T|T	0.49485|0.49485	-0.8935|-0.8935	5|10	.|0.06099	.|T	.|0.92	.|.	8.2343|8.2343	0.31616|0.31616	0.526:0.0:0.474:0.0|0.526:0.0:0.474:0.0	.|.	.|433;460;460	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	W|N	351|460;433;460	.|ENSP00000311186:K460N;ENSP00000378872:K433N;ENSP00000440045:K460N	.|ENSP00000311186:K460N	G|K	+|+	1|3	0|2	ATP2A2|ATP2A2	109256292|109256292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.103000|1.103000	0.31062|0.31062	0.476000|0.476000	0.27440|0.27440	0.655000|0.655000	0.94253|0.94253	GGG|AAG		0.388	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		6	359	6	359	---	---	---	---
ATXN2	6311	broad.mit.edu	37	12	111893858	111893858	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:111893858G>T	ENST00000377617.3	-	23	3880	c.3719C>A	c.(3718-3720)cCa>cAa	p.P1240Q	ATXN2_ENST00000389153.4_Missense_Mutation_p.P977Q|ATXN2_ENST00000542287.2_Missense_Mutation_p.P975Q|ATXN2_ENST00000535949.1_Missense_Mutation_p.P933Q|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000608853.1_Missense_Mutation_p.P1080Q	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1240					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.P1240Q(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CATGTGGGGTGGGTTGGTATA	0.517																																						ENST00000377617.3																			1	Substitution - Missense(1)	p.P1240Q(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3718-3720)cCa>cAa		ataxin 2							328.0	294.0	305.0					12																	111893858		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111893858G>T	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3719C>A	12.37:g.111893858G>T	ENSP00000366843:p.Pro1240Gln					ATXN2_ENST00000608853.1_Missense_Mutation_p.P1080Q|ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000542287.2_Missense_Mutation_p.P975Q|ATXN2_ENST00000535949.1_Missense_Mutation_p.P933Q|ATXN2_ENST00000389153.4_Missense_Mutation_p.P977Q	p.P1240Q	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			23	3880	-			1240					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.3719C>A	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985259	0.74474	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	T	0.67345	-0.26	5.59	5.59	0.84812	.	0.052523	0.85682	D	0.000000	T	0.71719	0.3373	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D	0.76494	0.996;0.997;0.991;0.999;0.996	P;D;P;D;P	0.67900	0.907;0.916;0.881;0.954;0.907	T	0.72997	-0.4121	10	0.48119	T	0.1	-7.9535	19.9595	0.97236	0.0:0.0:1.0:0.0	.	241;1240;933;975;977	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	Q	295;977;1240;241;975;933;165	ENSP00000366843:P1240Q	ENSP00000366843:P1240Q	P	-	2	0	ATXN2	110378241	1.000000	0.71417	0.999000	0.59377	0.910000	0.53928	4.721000	0.61951	2.797000	0.96272	0.563000	0.77884	CCA		0.517	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		6	251	6	251	---	---	---	---
TRAFD1	10906	broad.mit.edu	37	12	112589916	112589916	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:112589916C>A	ENST00000257604.5	+	10	2208	c.1591C>A	c.(1591-1593)Cct>Act	p.P531T	TRAFD1_ENST00000412615.2_Missense_Mutation_p.P531T|Y_RNA_ENST00000363265.1_RNA	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	531					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)	p.P531T(1)		kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CTCTTTCTCCCCTGGGCCTTC	0.547																																						ENST00000257604.5																			1	Substitution - Missense(1)	p.P531T(1)	lung(1)	kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(1591-1593)Cct>Act		TRAF-type zinc finger domain containing 1							82.0	91.0	88.0					12																	112589916		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112589916C>A	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.1591C>A	12.37:g.112589916C>A	ENSP00000257604:p.Pro531Thr					TRAFD1_ENST00000412615.2_Missense_Mutation_p.P531T	p.P531T	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			10	2208	+			531					A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.1591C>A	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	C	5.978	0.364382	0.11296	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.28454	1.61;1.61	6.16	1.27	0.21489	.	0.829951	0.10892	N	0.622582	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.24905	-1.0147	10	0.62326	D	0.03	-0.0684	2.1423	0.03778	0.1371:0.5107:0.1326:0.2196	.	531	O14545	TRAD1_HUMAN	T	531	ENSP00000396526:P531T;ENSP00000257604:P531T	ENSP00000257604:P531T	P	+	1	0	TRAFD1	111074299	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.615000	0.24329	-0.026000	0.13895	-0.912000	0.02778	CCT		0.547	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		6	253	6	253	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112622379	112622379	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:112622379G>T	ENST00000430131.2	-	60	10270	c.9125C>A	c.(9124-9126)cCc>cAc	p.P3042H	HECTD4_ENST00000377560.5_Missense_Mutation_p.P3292H|HECTD4_ENST00000550722.1_Missense_Mutation_p.P3318H			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3042					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTCTGTGCCGGGGAAGGCCAG	0.632																																						ENST00000550722.1																			0											c.(9952-9954)cCc>cAc		HECT domain containing E3 ubiquitin protein ligase 4							69.0	86.0	80.0					12																	112622379		2181	4270	6451	SO:0001583	missense	283450							g.chr12:112622379G>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9125C>A	12.37:g.112622379G>T	ENSP00000404379:p.Pro3042His					HECTD4_ENST00000430131.2_Missense_Mutation_p.P3042H|HECTD4_ENST00000377560.5_Missense_Mutation_p.P3292H	p.P3318H	NM_001109662.3	NP_001103132.3					61	10348	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.9953C>A		.	.	.	.	.	.	.	.	.	.	G	3.819	-0.038101	0.07497	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.45668	0.89;0.89;0.89	5.37	4.43	0.53597	.	.	.	.	.	T	0.27278	0.0669	N	0.12182	0.205	0.09310	N	1	B	0.25955	0.138	B	0.17433	0.018	T	0.19192	-1.0313	9	0.87932	D	0	.	13.0639	0.59022	0.0:0.3527:0.6473:0.0	.	3042	Q9Y4D8	K0614_HUMAN	H	3292;3042;3318	ENSP00000366783:P3292H;ENSP00000404379:P3042H;ENSP00000449784:P3318H	ENSP00000366783:P3292H	P	-	2	0	C12orf51	111106762	0.363000	0.24989	0.067000	0.19924	0.004000	0.04260	2.189000	0.42621	2.531000	0.85337	0.655000	0.94253	CCC		0.632	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	55	5	55	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113698209	113698209	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:113698209C>A	ENST00000335509.6	+	3	463	c.149C>A	c.(148-150)cCc>cAc	p.P50H	TPCN1_ENST00000541517.1_Missense_Mutation_p.P122H|TPCN1_ENST00000550785.1_Missense_Mutation_p.P122H|TPCN1_ENST00000392569.4_5'UTR	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	50					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCCCAGGCCCCCAGTCTCAGC	0.562																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(364-366)cCc>cAc		two pore segment channel 1							52.0	50.0	50.0					12																	113698209		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113698209C>A	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.149C>A	12.37:g.113698209C>A	ENSP00000335300:p.Pro50His					TPCN1_ENST00000541517.1_Missense_Mutation_p.P122H|TPCN1_ENST00000335509.6_Missense_Mutation_p.P50H|TPCN1_ENST00000392569.4_5'UTR	p.P122H	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			4	534	+			50					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.365C>A	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	C	9.804	1.181200	0.21787	.	.	ENSG00000186815	ENST00000552642;ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000335509;ENST00000550785;ENST00000541517	T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	4.49	3.6	0.41247	.	0.521356	0.19835	N	0.104987	T	0.30541	0.0768	N	0.22421	0.69	0.31541	N	0.659945	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.24261	-1.0165	10	0.45353	T	0.12	-17.7011	6.9045	0.24301	0.1725:0.7381:0.0:0.0895	.	122;50	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	H	26;105;136;50;122;50;122;122	ENSP00000447806:P26H;ENSP00000449560:P105H;ENSP00000447569:P136H;ENSP00000447073:P50H;ENSP00000447263:P122H;ENSP00000335300:P50H;ENSP00000448083:P122H;ENSP00000438125:P122H	ENSP00000335300:P50H	P	+	2	0	TPCN1	112182592	0.998000	0.40836	0.883000	0.34634	0.322000	0.28314	3.593000	0.54001	1.119000	0.41883	0.467000	0.42956	CCC		0.562	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		4	73	4	73	---	---	---	---
TAOK3	51347	broad.mit.edu	37	12	118693363	118693363	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:118693363C>A	ENST00000392533.3	-	3	500	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	TAOK3_ENST00000419821.2_Missense_Mutation_p.G4W	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	4					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCAGCACCCCTTTACGCATG	0.413																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(10-12)Ggg>Tgg		TAO kinase 3							133.0	134.0	133.0					12																	118693363		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118693363C>A	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.10G>T	12.37:g.118693363C>A	ENSP00000376317:p.Gly4Trp					TAOK3_ENST00000419821.2_Missense_Mutation_p.G4W	p.G4W	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			3	500	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		4					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.10G>T	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329916	0.60743	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000535570;ENST00000541186;ENST00000541878;ENST00000542902;ENST00000542532;ENST00000541786;ENST00000539872	T;T;T;T;T;T	0.76448	-1.02;-1.02;1.22;3.27;0.91;0.89	4.88	3.97	0.46021	.	0.061927	0.64402	D	0.000004	T	0.78298	0.4261	N	0.19112	0.55	0.80722	D	1	D	0.56521	0.976	D	0.65010	0.931	T	0.81409	-0.0946	10	0.87932	D	0	.	13.5386	0.61659	0.0:0.9242:0.0:0.0758	.	4	Q9H2K8	TAOK3_HUMAN	W	4	ENSP00000416374:G4W;ENSP00000376317:G4W;ENSP00000443465:G4W;ENSP00000438820:G4W;ENSP00000444057:G4W;ENSP00000440315:G4W	ENSP00000376317:G4W	G	-	1	0	TAOK3	117177746	1.000000	0.71417	0.998000	0.56505	0.565000	0.35776	5.517000	0.67061	1.268000	0.44264	0.655000	0.94253	GGG		0.413	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		6	379	6	379	---	---	---	---
GCN1L1	10985	broad.mit.edu	37	12	120582545	120582545	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:120582545G>T	ENST00000300648.6	-	41	5262	c.5250C>A	c.(5248-5250)ccC>ccA	p.P1750P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1750					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGGACATGGGGTGCAATGT	0.512																																						ENST00000300648.6																			0				NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94						c.(5248-5250)ccC>ccA		GCN1 general control of amino-acid synthesis 1-like 1 (yeast)							181.0	186.0	184.0					12																	120582545		2055	4196	6251	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120582545G>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5250C>A	12.37:g.120582545G>T							p.P1750P	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN			41	5262	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1750					A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.5250C>A	CCDS41847.1																																																																																				0.512	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			7	320	7	320	---	---	---	---
VPS37B	79720	broad.mit.edu	37	12	123355528	123355528	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:123355528G>T	ENST00000267202.2	-	2	573	c.192C>A	c.(190-192)ccC>ccA	p.P64P		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	64	Interaction with IST1.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TGTCCAGCTGGGGCTGGTACA	0.453																																						ENST00000267202.2																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5						c.(190-192)ccC>ccA		vacuolar protein sorting 37 homolog B (S. cerevisiae)							121.0	119.0	120.0					12																	123355528		2203	4300	6503	SO:0001819	synonymous_variant	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123355528G>T	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.192C>A	12.37:g.123355528G>T							p.P64P	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	2	573	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		64			Interaction with IST1.			Silent	SNP	ENST00000267202.2	37	c.192C>A	CCDS9239.1																																																																																				0.453	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		6	277	6	277	---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123812310	123812310	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:123812310C>A	ENST00000602398.1	-	12	1609	c.1482G>T	c.(1480-1482)tgG>tgT	p.W494C	SBNO1_ENST00000420886.2_Missense_Mutation_p.W494C|SBNO1_ENST00000602750.1_Missense_Mutation_p.W493C|SBNO1_ENST00000267176.4_Missense_Mutation_p.W493C			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	494					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TACCCTCACCCCATATGCCAA	0.378																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(1480-1482)tgG>tgT		strawberry notch homolog 1 (Drosophila)							78.0	79.0	79.0					12																	123812310		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123812310C>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1482G>T	12.37:g.123812310C>A	ENSP00000473665:p.Trp494Cys					SBNO1_ENST00000602398.1_Missense_Mutation_p.W494C|SBNO1_ENST00000602750.1_Missense_Mutation_p.W493C|SBNO1_ENST00000267176.4_Missense_Mutation_p.W493C	p.W494C	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	11	1481	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		494					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.1482G>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529561	0.85706	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	D;D	0.93426	-3.22;-3.22	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.97999	0.9341	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	D	0.98285	1.0510	10	0.87932	D	0	-10.6094	20.5596	0.99324	0.0:1.0:0.0:0.0	.	494;493;492	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	C	494;493;493	ENSP00000387361:W494C;ENSP00000267176:W493C	ENSP00000267176:W493C	W	-	3	0	SBNO1	122378263	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.868000	0.98415	0.555000	0.69702	TGG		0.378	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		5	135	5	135	---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131487813	131487813	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:131487813C>A	ENST00000261654.5	+	10	1669	c.1110C>A	c.(1108-1110)ccC>ccA	p.P370P	GPR133_ENST00000535015.1_Silent_p.P402P|GPR133_ENST00000376682.4_Silent_p.P56P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	370					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCAGCACGCCCCAGGTCACCG	0.622																																						ENST00000261654.5																			0				NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67						c.(1108-1110)ccC>ccA		G protein-coupled receptor 133							103.0	85.0	91.0					12																	131487813		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131487813C>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1110C>A	12.37:g.131487813C>A						GPR133_ENST00000535015.1_Silent_p.P402P|GPR133_ENST00000376682.4_Silent_p.P56P	p.P370P	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	10	1669	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		370					B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.1110C>A	CCDS9272.1																																																																																				0.622	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		5	145	5	145	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133233834	133233834	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:133233834G>T	ENST00000320574.5	-	29	3513	c.3470C>A	c.(3469-3471)cCa>cAa	p.P1157Q	POLE_ENST00000535270.1_Missense_Mutation_p.P1130Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1157					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ACGTGGCACTGGGTTCTTTAC	0.532								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(3469-3471)cCa>cAa	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							105.0	103.0	104.0					12																	133233834		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133233834G>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3470C>A	12.37:g.133233834G>T	ENSP00000322570:p.Pro1157Gln					POLE_ENST00000535270.1_Missense_Mutation_p.P1130Q	p.P1157Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	29	3513	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1157					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.3470C>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	G	31	5.097834	0.94197	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000376577	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.56805	-0.7918	10	0.87932	D	0	.	20.8597	0.99761	0.0:0.0:1.0:0.0	.	1130;1157	F5H1D6;Q07864	.;DPOE1_HUMAN	Q	1157;1168;1130;937;134;1092	ENSP00000322570:P1157Q;ENSP00000406383:P1168Q;ENSP00000445753:P1130Q;ENSP00000442519:P937Q	ENSP00000322570:P1157Q	P	-	2	0	POLE	131743907	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.702000	0.98712	2.937000	0.99478	0.650000	0.86243	CCA		0.532	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		5	151	5	151	---	---	---	---
PSPC1	55269	broad.mit.edu	37	13	20356679	20356679	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:20356679C>A	ENST00000338910.4	-	1	378	c.219G>T	c.(217-219)ccG>ccT	p.P73P		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	73					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TCTTCTCGCCCGGCTTGAGGA	0.642																																						ENST00000338910.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(217-219)ccG>ccT		paraspeckle component 1							61.0	64.0	63.0					13																	20356679		1992	4185	6177	SO:0001819	synonymous_variant	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20356679C>A	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.219G>T	13.37:g.20356679C>A							p.P73P	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	1	378	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	73					Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Silent	SNP	ENST00000338910.4	37	c.219G>T	CCDS41870.1																																																																																				0.642	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			4	90	4	90	---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25416253	25416253	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:25416253A>G	ENST00000255324.5	+	19	2609	c.2557A>G	c.(2557-2559)Att>Gtt	p.I853V	RNF17_ENST00000339524.3_5'Flank|RNF17_ENST00000381921.1_Missense_Mutation_p.I853V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	853					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.I853V(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TACTACTAGTATTAATGACCA	0.343																																						ENST00000255324.5																			1	Substitution - Missense(1)	p.I853V(1)	prostate(1)	NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(2557-2559)Att>Gtt		ring finger protein 17							147.0	138.0	141.0					13																	25416253		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25416253A>G	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2557A>G	13.37:g.25416253A>G	ENSP00000255324:p.Ile853Val					RNF17_ENST00000381921.1_Missense_Mutation_p.I853V	p.I853V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	19	2609	+		Lung SC(185;0.0225)|Breast(139;0.077)	853					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2557A>G	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	8.723	0.914770	0.17907	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.28895	1.59;1.59;1.59	5.29	2.62	0.31277	Staphylococcal nuclease (SNase-like) (1);	0.231736	0.35207	N	0.003368	T	0.15869	0.0382	N	0.20986	0.625	0.80722	D	1	B;B;B	0.15719	0.005;0.001;0.014	B;B;B	0.16289	0.007;0.003;0.015	T	0.07520	-1.0768	10	0.19147	T	0.46	-13.2712	4.9152	0.13842	0.6735:0.0:0.3265:0.0	.	853;853;853	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	V	853;853;712;177	ENSP00000255324:I853V;ENSP00000371346:I853V;ENSP00000388892:I177V	ENSP00000255324:I853V	I	+	1	0	RNF17	24314253	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	0.877000	0.28106	0.966000	0.38159	0.477000	0.44152	ATT		0.343	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		55	127	55	127	---	---	---	---
LNX2	222484	broad.mit.edu	37	13	28136686	28136686	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:28136686C>A	ENST00000316334.3	-	5	1217	c.1088G>T	c.(1087-1089)gGg>gTg	p.G363V		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	363	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AATAAAAACCCCTGGCTCATC	0.522																																						ENST00000316334.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1087-1089)gGg>gTg		ligand of numb-protein X 2							123.0	129.0	127.0					13																	28136686		2203	4300	6503	SO:0001583	missense	222484						zinc ion binding	g.chr13:28136686C>A	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1088G>T	13.37:g.28136686C>A	ENSP00000325929:p.Gly363Val						p.G363V	NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	5	1217	-		Lung SC(185;0.0156)	363			PDZ 2.		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.1088G>T	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782887	0.70222	.	.	ENSG00000139517	ENST00000316334	T	0.35236	1.32	5.88	5.88	0.94601	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.71508	0.3348	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77718	-0.2483	10	0.87932	D	0	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	363	Q8N448	LNX2_HUMAN	V	363	ENSP00000325929:G363V	ENSP00000325929:G363V	G	-	2	0	LNX2	27034686	1.000000	0.71417	0.705000	0.30386	0.249000	0.25844	7.807000	0.86032	2.782000	0.95742	0.655000	0.94253	GGG		0.522	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			7	295	7	295	---	---	---	---
TEX26	122046	broad.mit.edu	37	13	31531071	31531071	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:31531071C>A	ENST00000380473.3	+	4	387	c.374C>A	c.(373-375)cCt>cAt	p.P125H		NM_152325.1	NP_689538.1	Q8N6G2	TEX26_HUMAN	testis expressed 26	125																	AACTGCCTCCCTTGGAAAATC	0.388																																						ENST00000380473.3																			0											c.(373-375)cCt>cAt		testis expressed 26							126.0	114.0	118.0					13																	31531071		2203	4300	6503	SO:0001583	missense	122046							g.chr13:31531071C>A	BC030277	CCDS9339.1	13q12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000175664	ENSG00000175664			28622	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 26"""	C13orf26		12477932	Standard	NM_152325		Approved	MGC40178	uc001uti.3	Q8N6G2	OTTHUMG00000016682	ENST00000380473.3:c.374C>A	13.37:g.31531071C>A	ENSP00000369840:p.Pro125His						p.P125H	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN			4	387	+			125						Missense_Mutation	SNP	ENST00000380473.3	37	c.374C>A	CCDS9339.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982814	0.53827	.	.	ENSG00000175664	ENST00000380473	T	0.51325	0.71	4.76	4.76	0.60689	.	0.105638	0.40222	N	0.001152	T	0.65133	0.2662	M	0.68952	2.095	0.37999	D	0.934175	D	0.89917	1.0	D	0.72075	0.976	T	0.71906	-0.4451	10	0.66056	D	0.02	-6.5827	13.2598	0.60098	0.0:1.0:0.0:0.0	.	125	Q8N6G2	CM026_HUMAN	H	125	ENSP00000369840:P125H	ENSP00000369840:P125H	P	+	2	0	C13orf26	30429071	0.972000	0.33761	0.413000	0.26509	0.038000	0.13279	1.206000	0.32321	2.150000	0.67090	0.650000	0.86243	CCT		0.388	TEX26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044380.2	NM_152325		5	117	5	117	---	---	---	---
KL	9365	broad.mit.edu	37	13	33635044	33635044	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:33635044C>A	ENST00000380099.3	+	4	1836	c.1828C>A	c.(1828-1830)Cag>Aag	p.Q610K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	610	Glycosyl hydrolase-1 2.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TAACCAGTCCCAGGTGAACCA	0.582																																						ENST00000380099.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41						c.(1828-1830)Cag>Aag		klotho							115.0	104.0	108.0					13																	33635044		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33635044C>A	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1828C>A	13.37:g.33635044C>A	ENSP00000369442:p.Gln610Lys					KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	p.Q610K	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	4	1836	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	610			Glycosyl hydrolase-1 2.		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.1828C>A	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	C	4.925	0.171908	0.09391	.	.	ENSG00000133116	ENST00000380099	T	0.27890	1.64	5.57	5.57	0.84162	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.431042	0.27164	N	0.020625	T	0.19927	0.0479	L	0.27053	0.805	0.18873	N	0.999982	B	0.11235	0.004	B	0.17098	0.017	T	0.19516	-1.0303	10	0.05620	T	0.96	-20.421	13.7967	0.63175	0.0:0.9268:0.0:0.0732	.	610	Q9UEF7	KLOT_HUMAN	K	610	ENSP00000369442:Q610K	ENSP00000369442:Q610K	Q	+	1	0	KL	32533044	0.320000	0.24616	0.943000	0.38184	0.110000	0.19582	1.460000	0.35244	2.641000	0.89580	0.655000	0.94253	CAG		0.582	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1			5	182	5	182	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46543054	46543054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:46543054G>T	ENST00000242848.4	-	14	3973	c.3625C>A	c.(3625-3627)Cca>Aca	p.P1209T	ZC3H13_ENST00000282007.3_Missense_Mutation_p.P1209T|ZC3H13_ENST00000378921.2_Missense_Mutation_p.P165T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1209	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCATTGGATGGGGAGCGAAGA	0.498																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3625-3627)Cca>Aca		zinc finger CCCH-type containing 13							200.0	183.0	189.0					13																	46543054		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46543054G>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3625C>A	13.37:g.46543054G>T	ENSP00000242848:p.Pro1209Thr					ZC3H13_ENST00000282007.3_Missense_Mutation_p.P1209T|ZC3H13_ENST00000378921.2_Missense_Mutation_p.P165T	p.P1209T			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	14	3973	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1209			Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.3625C>A		.	.	.	.	.	.	.	.	.	.	G	16.77	3.214243	0.58452	.	.	ENSG00000123200	ENST00000242848;ENST00000378921;ENST00000282007	T;T;T	0.62105	1.12;2.11;0.05	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000014	T	0.72661	0.3488	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.74931	-0.3496	10	0.72032	D	0.01	.	19.5244	0.95197	0.0:0.0:1.0:0.0	.	1209;1209	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	T	1209;165;1209	ENSP00000242848:P1209T;ENSP00000368201:P165T;ENSP00000282007:P1209T	ENSP00000242848:P1209T	P	-	1	0	ZC3H13	45441055	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.055000	0.93873	2.683000	0.91414	0.655000	0.94253	CCA		0.498	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	211	7	211	---	---	---	---
LRCH1	23143	broad.mit.edu	37	13	47269054	47269054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:47269054G>T	ENST00000389798.3	+	9	1344	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	LRCH1_ENST00000311191.6_Nonsense_Mutation_p.E383*|LRCH1_ENST00000389797.3_Nonsense_Mutation_p.E383*	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	383								p.E383*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATTTCAACCGGAGCCTTCCCT	0.408																																						ENST00000311191.6																			1	Substitution - Nonsense(1)	p.E383*(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1147-1149)Gag>Tag		leucine-rich repeats and calponin homology (CH) domain containing 1							87.0	91.0	90.0					13																	47269054		2203	4300	6503	SO:0001587	stop_gained	23143							g.chr13:47269054G>T	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1147G>T	13.37:g.47269054G>T	ENSP00000374448:p.Glu383*					LRCH1_ENST00000389797.3_Nonsense_Mutation_p.E383*|LRCH1_ENST00000389798.3_Nonsense_Mutation_p.E383*	p.E383*	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	9	1376	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	383					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Nonsense_Mutation	SNP	ENST00000389798.3	37	c.1147G>T	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400124	0.96030	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	.	.	.	5.68	2.22	0.28083	.	0.729179	0.12787	N	0.439151	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-2.2636	9.8229	0.40894	0.1929:0.0:0.8071:0.0	.	.	.	.	X	383	.	ENSP00000308493:E383X	E	+	1	0	LRCH1	46167055	0.003000	0.15002	0.005000	0.12908	0.820000	0.46376	0.499000	0.22546	0.179000	0.19938	-0.300000	0.09419	GAG		0.408	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		84	82	84	82	---	---	---	---
INTS6	26512	broad.mit.edu	37	13	51961586	51961586	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:51961586C>A	ENST00000311234.4	-	7	1302	c.830G>T	c.(829-831)gGg>gTg	p.G277V	INTS6_ENST00000398119.2_Missense_Mutation_p.G264V|INTS6_ENST00000490542.1_5'Flank|INTS6_ENST00000463928.1_Missense_Mutation_p.G277V|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000497989.1_Missense_Mutation_p.G99V|INTS6_ENST00000425000.1_5'UTR	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	277					signal transduction (GO:0007165)|snRNA processing (GO:0016180)	actin cytoskeleton (GO:0015629)|integrator complex (GO:0032039)|nucleus (GO:0005634)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TATAGGAACCCCAGTTTTAGG	0.423																																						ENST00000311234.4																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(829-831)gGg>gTg		integrator complex subunit 6							90.0	83.0	86.0					13																	51961586		2203	4300	6503	SO:0001583	missense	26512				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity	g.chr13:51961586C>A	AF097645	CCDS9428.1, CCDS41890.1, CCDS45048.1	13q14.3	2010-08-20	2006-03-15	2006-03-15	ENSG00000102786	ENSG00000102786		"""DEAD-boxes"""	14879	protein-coding gene	gene with protein product		604331	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26"""	DDX26		10467397, 16239144	Standard	XM_005266340		Approved	DICE1, HDB, Notchl2, DBI-1, DDX26A, INT6	uc001vfk.3	Q9UL03	OTTHUMG00000016945	ENST00000311234.4:c.830G>T	13.37:g.51961586C>A	ENSP00000310260:p.Gly277Val					INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000463928.1_Missense_Mutation_p.G277V|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000398119.2_Missense_Mutation_p.G264V|INTS6_ENST00000497989.1_Missense_Mutation_p.G99V	p.G277V	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN		GBM - Glioblastoma multiforme(99;7.7e-08)	7	1302	-		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)	277					Q0P664|Q6PJP4|Q9UFK0|Q9Y5M9	Missense_Mutation	SNP	ENST00000311234.4	37	c.830G>T	CCDS9428.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762971	0.89932	.	.	ENSG00000102786	ENST00000311234;ENST00000398119;ENST00000497989	T;T;T	0.57907	0.37;0.37;0.37	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82331	-0.0510	10	0.66056	D	0.02	-6.0931	17.2129	0.86935	0.0:1.0:0.0:0.0	.	277	Q9UL03	INT6_HUMAN	V	277;264;99	ENSP00000310260:G277V;ENSP00000381187:G264V;ENSP00000419871:G99V	ENSP00000310260:G277V	G	-	2	0	INTS6	50859587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.772000	0.85439	2.356000	0.79943	0.561000	0.74099	GGG		0.423	INTS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045023.1	NM_012141		5	182	5	182	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52524476	52524476	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:52524476C>A	ENST00000242839.4	-	10	2663	c.2507G>T	c.(2506-2508)gGg>gTg	p.G836V	ATP7B_ENST00000448424.2_Missense_Mutation_p.G758V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G108V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.G674V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G725V|ATP7B_ENST00000418097.2_Missense_Mutation_p.G836V|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	836					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AAACTTTCCCCCAGGGACCAC	0.547									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(2506-2508)gGg>gTg		ATPase, Cu++ transporting, beta polypeptide							76.0	81.0	79.0					13																	52524476		2098	4233	6331	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52524476C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.2507G>T	13.37:g.52524476C>A	ENSP00000242839:p.Gly836Val					ATP7B_ENST00000418097.2_Missense_Mutation_p.G836V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G758V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G725V|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Missense_Mutation_p.G674V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G108V|ATP7B_ENST00000482841.1_5'UTR	p.G836V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	10	2663	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	836					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.2507G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093947	0.94149	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000418097	D;D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	5.62	5.62	0.85841	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	H	0.99156	4.45	0.80722	D	1	D;D;D;D;B;D;D	0.89917	0.999;1.0;1.0;0.999;0.058;1.0;1.0	D;D;D;D;B;D;D	0.97110	0.938;0.998;1.0;0.959;0.005;1.0;0.997	D	0.99150	1.0858	10	0.87932	D	0	-15.6996	19.6576	0.95849	0.0:1.0:0.0:0.0	.	758;788;836;108;725;674;836	E7ET55;B7ZLR4;F5H748;E7EQQ2;P35670-3;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	V	836;725;674;108;758;836	ENSP00000242839:G836V;ENSP00000383217:G725V;ENSP00000342559:G674V;ENSP00000390360:G108V;ENSP00000416738:G758V;ENSP00000393343:G836V	ENSP00000242839:G836V	G	-	2	0	ATP7B	51422477	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.732000	0.84908	2.650000	0.89964	0.650000	0.86243	GGG		0.547	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		4	79	4	79	---	---	---	---
ATP7B	540	broad.mit.edu	37	13	52548505	52548505	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:52548505C>A	ENST00000242839.4	-	2	1007	c.851G>T	c.(850-852)gGg>gTg	p.G284V	ATP7B_ENST00000448424.2_Missense_Mutation_p.G284V|ATP7B_ENST00000542656.1_Missense_Mutation_p.G252V|ATP7B_ENST00000400370.3_Missense_Mutation_p.G284V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G284V|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.G284V|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	284	HMA 3. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ACTTTGAACCCCTAGGAGCTG	0.468									Wilson disease																													ENST00000242839.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(850-852)gGg>gTg		ATPase, Cu++ transporting, beta polypeptide							83.0	82.0	82.0					13																	52548505		1855	4094	5949	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548505C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.851G>T	13.37:g.52548505C>A	ENSP00000242839:p.Gly284Val					ATP7B_ENST00000418097.2_Missense_Mutation_p.G284V|ATP7B_ENST00000542656.1_Missense_Mutation_p.G252V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G284V|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000400370.3_Missense_Mutation_p.G284V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G284V|ATP7B_ENST00000482841.1_5'UTR	p.G284V	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	1007	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	284			HMA 3.		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.851G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238397	0.79800	.	.	ENSG00000123191	ENST00000242839;ENST00000344297;ENST00000448424;ENST00000400370;ENST00000418097;ENST00000542656	D;D;D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95	6.02	6.02	0.97574	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.237227	0.48767	D	0.000172	D	0.97873	0.9301	H	0.97315	3.98	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.985;1.0;1.0;1.0;0.996	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.953;0.987;1.0;1.0;0.985	D	0.98338	1.0537	10	0.87932	D	0	-24.242	20.5407	0.99260	0.0:1.0:0.0:0.0	.	252;284;284;284;284;284;284	F6XIH0;E7ET55;B7ZLR4;F5H748;F5H562;P35670-2;P35670	.;.;.;.;.;.;ATP7B_HUMAN	V	284;284;284;284;284;252	ENSP00000242839:G284V;ENSP00000342559:G284V;ENSP00000416738:G284V;ENSP00000383221:G284V;ENSP00000393343:G284V;ENSP00000443128:G252V	ENSP00000242839:G284V	G	-	2	0	ATP7B	51446506	0.997000	0.39634	0.998000	0.56505	0.937000	0.57800	3.821000	0.55700	2.865000	0.98341	0.655000	0.94253	GGG		0.468	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		7	191	7	191	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61986618	61986618	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:61986618G>T	ENST00000409186.1	-	5	3719	c.1614C>A	c.(1612-1614)ccC>ccA	p.P538P	PCDH20_ENST00000409204.4_Silent_p.P538P			Q8N6Y1	PCD20_HUMAN	protocadherin 20	538	Cadherin 4. {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)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTTCTATTAAGGGTTGAAGGA	0.423																																						ENST00000409186.1																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1612-1614)ccC>ccA		protocadherin 20							151.0	155.0	154.0					13																	61986618		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986618G>T	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1614C>A	13.37:g.61986618G>T						PCDH20_ENST00000409204.4_Silent_p.P538P	p.P538P			Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	5	3719	-		Breast(118;0.195)|Prostate(109;0.229)	511			Cadherin 4.		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.1614C>A	CCDS9442.2																																																																																				0.423	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		7	448	7	448	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67801206	67801206	+	Missense_Mutation	SNP	C	C	A	rs375678760		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:67801206C>A	ENST00000377865.2	-	1	1501	c.1367G>T	c.(1366-1368)aGg>aTg	p.R456M	PCDH9_ENST00000544246.1_Missense_Mutation_p.R456M|PCDH9_ENST00000328454.5_Missense_Mutation_p.R456M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R456M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R456M			Q9HC56	PCDH9_HUMAN	protocadherin 9	456	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGCTTAACCCTTACCAGGGC	0.423																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(1366-1368)aGg>aTg		protocadherin 9							68.0	69.0	69.0					13																	67801206		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801206C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1367G>T	13.37:g.67801206C>A	ENSP00000367096:p.Arg456Met					PCDH9_ENST00000328454.5_Missense_Mutation_p.R456M|PCDH9_ENST00000456367.1_Missense_Mutation_p.R456M|PCDH9_ENST00000377865.2_Missense_Mutation_p.R456M|PCDH9_ENST00000377861.3_Missense_Mutation_p.R456M	p.R456M	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	2058	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	456			Cadherin 4.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1367G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597487	0.28445	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	6.08	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.040265	0.85682	N	0.000000	T	0.53334	0.1790	N	0.24115	0.695	0.58432	D	0.999999	P;P;D;D	0.54397	0.889;0.827;0.958;0.966	P;P;P;P	0.55055	0.767;0.511;0.536;0.666	T	0.52601	-0.8554	10	0.33940	T	0.23	.	16.7104	0.85383	0.1306:0.8694:0.0:0.0	.	456;456;456;456	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	M	456	ENSP00000442186:R456M;ENSP00000367096:R456M;ENSP00000401699:R456M;ENSP00000332060:R456M;ENSP00000367092:R456M	ENSP00000332060:R456M	R	-	2	0	PCDH9	66699207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.999000	0.70665	1.559000	0.49555	0.655000	0.94253	AGG		0.423	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		5	189	5	189	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88327880	88327880	+	Silent	SNP	C	C	A	rs374083775		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:88327880C>A	ENST00000325089.6	+	2	456	c.237C>A	c.(235-237)ccC>ccA	p.P79P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	79					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTAGCCCTCCCCGTTTCCCAA	0.453																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(235-237)ccC>ccA		SLIT and NTRK-like family, member 5		C		0,4406		0,0,2203	164.0	163.0	163.0		237	-2.0	1.0	13		163	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLITRK5	NM_015567.1		0,1,6502	AA,AC,CC		0.0116,0.0,0.0077		79/959	88327880	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88327880C>A	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.237C>A	13.37:g.88327880C>A						SLITRK5_ENST00000400028.3_Intron	p.P79P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	456	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		79					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.237C>A	CCDS9465.1																																																																																				0.453	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			7	450	7	450	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88328403	88328403	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:88328403T>C	ENST00000325089.6	+	2	979	c.760T>C	c.(760-762)Tcc>Ccc	p.S254P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	254	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.S254P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGACAGCATCTCCTATTCAGC	0.507																																						ENST00000325089.6																			1	Substitution - Missense(1)	p.S254P(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(760-762)Tcc>Ccc		SLIT and NTRK-like family, member 5							106.0	106.0	106.0					13																	88328403		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88328403T>C	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.760T>C	13.37:g.88328403T>C	ENSP00000366283:p.Ser254Pro					SLITRK5_ENST00000400028.3_Intron	p.S254P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	979	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		254			LRRCT 1.		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.760T>C	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.701923	0.00725	.	.	ENSG00000165300	ENST00000325089	T	0.52754	0.65	5.61	4.41	0.53225	Cysteine-rich flanking region, C-terminal (1);	0.128132	0.53938	D	0.000051	T	0.18964	0.0455	N	0.01482	-0.84	0.80722	D	1	B	0.13145	0.007	B	0.14023	0.01	T	0.05500	-1.0881	9	.	.	.	-17.4076	10.1719	0.42915	0.1494:0.0:0.0:0.8506	.	254	O94991	SLIK5_HUMAN	P	254	ENSP00000366283:S254P	.	S	+	1	0	SLITRK5	87126404	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.547000	0.53663	0.933000	0.37291	-0.669000	0.03829	TCC		0.507	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			75	242	75	242	---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99554604	99554604	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:99554604C>A	ENST00000376460.1	-	12	1398	c.1318G>T	c.(1318-1320)Ggg>Tgg	p.G440W	DOCK9_ENST00000339416.2_Missense_Mutation_p.G441W|DOCK9_ENST00000448493.2_Missense_Mutation_p.G452W|DOCK9_ENST00000442173.1_Missense_Mutation_p.G440W	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	441					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGCTCTGCCCACTGCCATTC	0.552																																						ENST00000376460.1																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1318-1320)Ggg>Tgg		dedicator of cytokinesis 9							72.0	78.0	76.0					13																	99554604		2129	4234	6363	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99554604C>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1318G>T	13.37:g.99554604C>A	ENSP00000365643:p.Gly440Trp					DOCK9_ENST00000442173.1_Missense_Mutation_p.G440W|DOCK9_ENST00000448493.2_Missense_Mutation_p.G452W|DOCK9_ENST00000339416.2_Missense_Mutation_p.G441W	p.G440W	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN			12	1398	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		441					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.1318G>T	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060841	0.55432	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.36	-1.57	0.08506	.	1.973700	0.02010	N	0.046903	T	0.56217	0.1970	M	0.68593	2.085	0.34616	D	0.718131	P;P;P;P;P	0.51537	0.902;0.928;0.946;0.746;0.675	P;P;P;P;B	0.51266	0.639;0.664;0.566;0.48;0.325	T	0.53070	-0.8490	9	.	.	.	.	7.8058	0.29202	0.0:0.5189:0.1049:0.3762	.	441;440;440;440;441	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	W	440;441;441;441;440;441;452;440	ENSP00000365643:G440W;ENSP00000341086:G441W;ENSP00000401958:G452W;ENSP00000406883:G440W	.	G	-	1	0	DOCK9	98352605	0.046000	0.20272	0.006000	0.13384	0.181000	0.23173	1.077000	0.30741	-0.621000	0.05633	-0.355000	0.07637	GGG		0.552	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296		4	62	4	62	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101257324	101257324	+	Missense_Mutation	SNP	G	G	T	rs201221109		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:101257324G>T	ENST00000376234.3	-	18	2339	c.2150C>A	c.(2149-2151)cCc>cAc	p.P717H	TMTC4_ENST00000342624.5_Missense_Mutation_p.P736H|TMTC4_ENST00000328767.5_Missense_Mutation_p.P606H	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	717						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGATGCCGTGGGGTCAAGCTG	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		18915	0.0		0.001	False		,,,				2504	0.0					ENST00000342624.5																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(2206-2208)cCc>cAc		transmembrane and tetratricopeptide repeat containing 4							278.0	248.0	258.0					13																	101257324		2203	4300	6503	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101257324G>T		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.2150C>A	13.37:g.101257324G>T	ENSP00000365408:p.Pro717His					TMTC4_ENST00000376234.3_Missense_Mutation_p.P717H|TMTC4_ENST00000328767.5_Missense_Mutation_p.P606H	p.P736H	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN			19	2465	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		717					A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.2207C>A	CCDS41904.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	24.5	4.542145	0.85917	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.74315	-0.83;-0.83;-0.83	6.15	6.15	0.99193	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.92087	0.7492	H	0.97611	4.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.996	D	0.93672	0.6991	10	0.87932	D	0	.	20.8387	0.99724	0.0:0.0:1.0:0.0	.	606;717;736	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	H	717;736;606	ENSP00000365408:P717H;ENSP00000343871:P736H;ENSP00000365409:P606H	ENSP00000365409:P606H	P	-	2	0	TMTC4	100055325	1.000000	0.71417	0.976000	0.42696	0.649000	0.38597	9.466000	0.97665	2.932000	0.99384	0.643000	0.83706	CCC		0.428	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		6	321	6	321	---	---	---	---
GRK1	6011	broad.mit.edu	37	13	114324001	114324001	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:114324001G>T	ENST00000335678.6	+	2	931		c.e2-1			NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1						negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TCACTTTTCAGGGTGCTATGG	0.537																																						ENST00000335678.6																			0				ovary(2)	2						c.e2-1		G protein-coupled receptor kinase 1							230.0	234.0	232.0					13																	114324001		2106	4236	6342	SO:0001630	splice_region_variant	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114324001G>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.700-1G>T	13.37:g.114324001G>T								NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		2	931	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)						Q53X14	Splice_Site	SNP	ENST00000335678.6	37			.	.	.	.	.	.	.	.	.	.	g	14.70	2.613751	0.46631	.	.	ENSG00000185974	ENST00000335678	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7555	0.69560	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRK1	113372002	1.000000	0.71417	0.999000	0.59377	0.528000	0.34623	6.290000	0.72712	2.131000	0.65755	0.511000	0.50034	.		0.537	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929	Intron	6	372	6	372	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20864042	20864042	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:20864042G>T	ENST00000262715.5	-	11	1766	c.1726C>A	c.(1726-1728)Ctc>Atc	p.L576I	TEP1_ENST00000556935.1_Missense_Mutation_p.L468I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	576	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGAGCCTCGAGGGCATCAATG	0.468																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(1726-1728)Ctc>Atc		telomerase-associated protein 1							131.0	127.0	128.0					14																	20864042		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20864042G>T		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1726C>A	14.37:g.20864042G>T	ENSP00000262715:p.Leu576Ile					TEP1_ENST00000556935.1_Missense_Mutation_p.L468I	p.L576I	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	11	1766	-	all_cancers(95;0.00123)	all_lung(585;0.235)	576			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.1726C>A	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351777	0.61183	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.17370	2.28;2.28	5.43	1.59	0.23543	TROVE (2);	0.074689	0.50627	D	0.000106	T	0.25158	0.0611	M	0.62209	1.925	0.30451	N	0.775228	P;P	0.47253	0.869;0.892	P;P	0.51833	0.456;0.681	T	0.10222	-1.0639	10	0.59425	D	0.04	-4.217	8.0687	0.30676	0.3306:0.0:0.6694:0.0	.	468;576	G3V5X7;Q99973	.;TEP1_HUMAN	I	576;576;468	ENSP00000262715:L576I;ENSP00000452574:L468I	ENSP00000262715:L576I	L	-	1	0	TEP1	19933882	0.019000	0.18553	0.010000	0.14722	0.105000	0.19272	0.344000	0.19962	0.277000	0.22141	0.655000	0.94253	CTC		0.468	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		4	116	4	116	---	---	---	---
OR6S1	341799	broad.mit.edu	37	14	21109838	21109838	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:21109838C>A	ENST00000320704.3	-	1	12	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGTGGTTCCCATCAGGACTC	0.438																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(13-15)Ggg>Tgg		olfactory receptor, family 6, subfamily S, member 1							98.0	105.0	103.0					14																	21109838		2202	4300	6502	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109838C>A	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.13G>T	14.37:g.21109838C>A	ENSP00000313110:p.Gly5Trp						p.G5W	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	12	-	all_cancers(95;0.00304)		5					Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.13G>T	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	C	11.37	1.617768	0.28801	.	.	ENSG00000181803	ENST00000320704	T	0.38401	1.14	5.31	0.96	0.19631	.	1.335400	0.05137	N	0.493547	T	0.29389	0.0732	L	0.29908	0.895	0.09310	N	1	D	0.58620	0.983	P	0.45913	0.497	T	0.18871	-1.0323	10	0.66056	D	0.02	0.0752	2.9811	0.05954	0.214:0.4529:0.0:0.3331	.	5	Q8NH40	OR6S1_HUMAN	W	5	ENSP00000313110:G5W	ENSP00000313110:G5W	G	-	1	0	OR6S1	20179678	0.001000	0.12720	0.142000	0.22268	0.851000	0.48451	0.007000	0.13174	0.305000	0.22832	0.655000	0.94253	GGG		0.438	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			6	306	6	306	---	---	---	---
METTL3	56339	broad.mit.edu	37	14	21967909	21967909	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:21967909C>A	ENST00000298717.4	-	7	1493	c.1342G>T	c.(1342-1344)Ggg>Tgg	p.G448W		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	448					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		ACTACTTACCCCCAGAGATTT	0.378																																						ENST00000298717.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1342-1344)Ggg>Tgg		methyltransferase like 3							163.0	149.0	154.0					14																	21967909		2203	4300	6503	SO:0001630	splice_region_variant	56339				gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	g.chr14:21967909C>A	AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"""N6-adenosine-methyltransferase 70 kDa subunit"""	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.1343+1G>T	14.37:g.21967909C>A							p.G448W	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)	7	1493	-	all_cancers(95;0.000628)		448					O14736|Q86V05|Q9HB32	Splice_Site	SNP	ENST00000298717.4	37	c.1342G>T	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361697	0.82353	.	.	ENSG00000165819	ENST00000298717	T	0.59638	0.25	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	D	0.85199	0.5642	H	0.97783	4.075	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90705	0.4623	10	0.87932	D	0	-16.3363	17.2746	0.87111	0.0:1.0:0.0:0.0	.	448	Q86U44	MTA70_HUMAN	W	448	ENSP00000298717:G448W	ENSP00000298717:G448W	G	-	1	0	METTL3	21037749	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.059000	0.76684	2.619000	0.88677	0.460000	0.39030	GGG		0.378	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	NM_019852	Missense_Mutation	6	285	6	285	---	---	---	---
ACIN1	22985	broad.mit.edu	37	14	23531693	23531693	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:23531693C>A	ENST00000262710.1	-	15	3424	c.3097G>T	c.(3097-3099)Ggg>Tgg	p.G1033W	ACIN1_ENST00000338631.6_Missense_Mutation_p.G306W|ACIN1_ENST00000457657.1_Missense_Mutation_p.G993W|ACIN1_ENST00000397341.3_Missense_Mutation_p.G275W|ACIN1_ENST00000555053.1_Missense_Mutation_p.G1020W|ACIN1_ENST00000357481.2_Missense_Mutation_p.G275W|ACIN1_ENST00000557515.1_Missense_Mutation_p.G274W|ACIN1_ENST00000605057.1_Missense_Mutation_p.G975W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1033					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CCTGTGCGCCCCAACAACTCC	0.478																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3097-3099)Ggg>Tgg		apoptotic chromatin condensation inducer 1							166.0	173.0	171.0					14																	23531693		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23531693C>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3097G>T	14.37:g.23531693C>A	ENSP00000262710:p.Gly1033Trp					ACIN1_ENST00000357481.2_Missense_Mutation_p.G275W|ACIN1_ENST00000605057.1_Missense_Mutation_p.G975W|ACIN1_ENST00000338631.6_Missense_Mutation_p.G306W|ACIN1_ENST00000555053.1_Missense_Mutation_p.G1020W|ACIN1_ENST00000557515.1_Missense_Mutation_p.G274W|ACIN1_ENST00000397341.3_Missense_Mutation_p.G275W|ACIN1_ENST00000457657.1_Missense_Mutation_p.G993W	p.G1033W	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	15	3424	-	all_cancers(95;1.36e-05)		1033					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3097G>T	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925524	0.73213	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.62	5.62	0.85841	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.39083	N	0.001462	T	0.56848	0.2013	M	0.62723	1.935	0.38821	D	0.955628	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.85130	0.995;0.997;0.988;0.975;0.977	T	0.61138	-0.7123	10	0.87932	D	0	-15.7489	13.4148	0.60961	0.1573:0.8427:0.0:0.0	.	1020;1033;993;306;275	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	W	274;306;275;1033;993;275;1020	ENSP00000451138:G274W;ENSP00000345541:G306W;ENSP00000350073:G275W;ENSP00000262710:G1033W;ENSP00000405677:G993W;ENSP00000380502:G275W;ENSP00000451328:G1020W	ENSP00000262710:G1033W	G	-	1	0	ACIN1	22601533	0.970000	0.33590	0.996000	0.52242	0.961000	0.63080	2.782000	0.47758	2.650000	0.89964	0.563000	0.77884	GGG		0.478	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		6	388	6	388	---	---	---	---
TGM1	7051	broad.mit.edu	37	14	24729790	24729790	+	Missense_Mutation	SNP	C	C	A	rs369636498		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:24729790C>A	ENST00000206765.6	-	4	746	c.623G>T	c.(622-624)cGg>cTg	p.R208L	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	208					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGTGTGGACCCGCAGGTTCAG	0.607																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(622-624)cGg>cTg		transglutaminase 1	L-Glutamine(DB00130)						202.0	167.0	178.0					14																	24729790		2203	4300	6503	SO:0001583	missense	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24729790C>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.623G>T	14.37:g.24729790C>A	ENSP00000206765:p.Arg208Leu					TGM1_ENST00000544573.1_Intron	p.R208L	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	4	746	-			208					B4DWR7|Q197M4	Missense_Mutation	SNP	ENST00000206765.6	37	c.623G>T	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	5.514	0.279841	0.10458	.	.	ENSG00000092295	ENST00000206765	D	0.84516	-1.86	5.89	3.76	0.43208	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.195706	0.46442	D	0.000296	T	0.74129	0.3676	N	0.16790	0.44	0.23464	N	0.997624	B	0.18968	0.032	B	0.20184	0.028	T	0.63699	-0.6578	10	0.36615	T	0.2	-17.2242	13.0381	0.58882	0.0:0.8426:0.0:0.1574	.	208	P22735	TGM1_HUMAN	L	208	ENSP00000206765:R208L	ENSP00000206765:R208L	R	-	2	0	TGM1	23799630	0.187000	0.23238	0.643000	0.29450	0.572000	0.35998	2.043000	0.41231	1.507000	0.48752	0.563000	0.77884	CGG		0.607	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		4	157	4	157	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26949216	26949216	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:26949216G>T	ENST00000344429.5	-	3	417	c.414C>A	c.(412-414)ccC>ccA	p.P138P	NOVA1_ENST00000267422.7_Silent_p.P16P|NOVA1_ENST00000547619.1_Silent_p.P138P|NOVA1_ENST00000574031.1_Silent_p.P138P|NOVA1_ENST00000465357.2_Silent_p.P138P|NOVA1_ENST00000539517.2_Silent_p.P138P	NM_006491.2	NP_006482.1	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	141					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CGGTGGTCTGGGGTTGTAGAA	0.408																																						ENST00000539517.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(412-414)ccC>ccA		neuro-oncological ventral antigen 1							225.0	189.0	201.0					14																	26949216		2203	4300	6503	SO:0001819	synonymous_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26949216G>T	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000344429.5:c.414C>A	14.37:g.26949216G>T						NOVA1_ENST00000574031.1_Silent_p.P138P|NOVA1_ENST00000344429.5_Silent_p.P138P|NOVA1_ENST00000547619.1_Silent_p.P138P|NOVA1_ENST00000267422.7_Silent_p.P16P|NOVA1_ENST00000465357.2_Silent_p.P138P	p.P138P	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	3	731	-			141					A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000344429.5	37	c.414C>A	CCDS9635.1																																																																																				0.408	NOVA1-001	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276557.1	NM_006491		6	380	6	380	---	---	---	---
BNIP3P1	319138	broad.mit.edu	37	14	28733959	28733959	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:28733959C>A	ENST00000550043.1	+	0	364									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		TGTGACAGCCCACCTCGCTCA	0.463																																						ENST00000550043.1																			0																																																			319138							g.chr14:28733959C>A			14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378		14.37:g.28733959C>A														0	364	+									RNA	SNP	ENST00000550043.1	37																																																																																						0.463	BNIP3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000408770.1			6	174	6	174	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42360791	42360791	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:42360791G>T	ENST00000298119.4	+	4	2913	c.1724G>T	c.(1723-1725)gGg>gTg	p.G575V	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	575						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAAACTAACGGGGCTCAAATA	0.458										HNSCC(30;0.082)																												ENST00000298119.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120						c.(1723-1725)gGg>gTg		leucine rich repeat and fibronectin type III domain containing 5							99.0	92.0	94.0					14																	42360791		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360791G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1724G>T	14.37:g.42360791G>T	ENSP00000298119:p.Gly575Val	HNSCC(30;0.082)				LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	p.G575V	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2913	+			575					B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1724G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.856787	0.51376	.	.	ENSG00000165379	ENST00000298119	T	0.59772	0.24	5.75	5.75	0.90469	.	0.000000	0.53938	D	0.000042	T	0.59088	0.2168	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.68127	-0.5491	10	0.87932	D	0	.	17.4344	0.87547	0.0:0.0:1.0:0.0	.	575	Q96NI6	LRFN5_HUMAN	V	575	ENSP00000298119:G575V	ENSP00000298119:G575V	G	+	2	0	LRFN5	41430541	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	4.600000	0.61083	2.716000	0.92895	0.650000	0.86243	GGG		0.458	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		5	135	5	135	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51288706	51288706	+	Silent	SNP	C	C	A	rs370426860		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:51288706C>A	ENST00000382041.3	-	3	259	c.69G>T	c.(67-69)acG>acT	p.T23T	NIN_ENST00000389868.3_Silent_p.T23T|NIN_ENST00000245441.5_Silent_p.T23T|NIN_ENST00000324330.9_Silent_p.T23T|NIN_ENST00000453196.1_Silent_p.T23T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000382043.4_Silent_p.T23T|NIN_ENST00000530997.2_Silent_p.T23T	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	23	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					ACCCTGTGCCCGTCGTGTCAA	0.577			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(67-69)acG>acT		ninein (GSK3B interacting protein)							257.0	234.0	241.0					14																	51288706		2203	4300	6503	SO:0001819	synonymous_variant	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51288706C>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.69G>T	14.37:g.51288706C>A						NIN_ENST00000453196.1_Silent_p.T23T|NIN_ENST00000382043.4_Silent_p.T23T|NIN_ENST00000389868.3_Silent_p.T23T|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000530997.2_Silent_p.T23T|NIN_ENST00000382041.3_Silent_p.T23T|NIN_ENST00000324330.9_Silent_p.T23T	p.T23T	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN			3	259	-	all_epithelial(31;0.00244)|Breast(41;0.127)		23			EF-hand 1.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	37	c.69G>T	CCDS32079.1																																																																																				0.577	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		6	371	6	371	---	---	---	---
SOCS4	122809	broad.mit.edu	37	14	55510674	55510674	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:55510674G>T	ENST00000395472.2	+	2	1247	c.915G>T	c.(913-915)gaG>gaT	p.E305D	SOCS4_ENST00000555846.1_Missense_Mutation_p.E305D|SOCS4_ENST00000339298.2_Missense_Mutation_p.E305D	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	305	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GAAAACCAGAGGGTACCTTTT	0.428																																						ENST00000395472.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						c.(913-915)gaG>gaT		suppressor of cytokine signaling 4							121.0	120.0	120.0					14																	55510674		2203	4300	6503	SO:0001583	missense	122809				intracellular signal transduction|negative regulation of signal transduction|regulation of growth			g.chr14:55510674G>T	AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.915G>T	14.37:g.55510674G>T	ENSP00000378855:p.Glu305Asp					SOCS4_ENST00000339298.2_Missense_Mutation_p.E305D|SOCS4_ENST00000555846.1_Missense_Mutation_p.E305D	p.E305D	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN			2	1247	+			305			SH2.			Missense_Mutation	SNP	ENST00000395472.2	37	c.915G>T	CCDS9722.1	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950234	0.53186	.	.	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	D;D;D	0.87491	-2.26;-2.26;-2.26	5.77	1.96	0.26148	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.85274	0.5659	N	0.17312	0.475	0.49483	D	0.999796	D	0.63880	0.993	D	0.72338	0.977	T	0.80710	-0.1261	10	0.33940	T	0.23	-20.8337	9.6543	0.39917	0.3373:0.0:0.6627:0.0	.	305	Q8WXH5	SOCS4_HUMAN	D	305	ENSP00000378855:E305D;ENSP00000452522:E305D;ENSP00000341327:E305D	ENSP00000341327:E305D	E	+	3	2	SOCS4	54580427	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	0.912000	0.28597	0.090000	0.17273	0.650000	0.86243	GAG		0.428	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			6	267	6	267	---	---	---	---
SNAPC1	6617	broad.mit.edu	37	14	62245576	62245576	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:62245576G>T	ENST00000216294.4	+	7	877	c.773G>T	c.(772-774)aGg>aTg	p.R258M	RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	258	SNAPC4-binding.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		AGATGTGAAAGGGCAGAATCA	0.289																																					NSCLC(27;223 907 37180 39193 46568)	ENST00000216294.4																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13						c.(772-774)aGg>aTg		small nuclear RNA activating complex, polypeptide 1, 43kDa							68.0	73.0	72.0					14																	62245576		2203	4296	6499	SO:0001583	missense	6617				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr14:62245576G>T	Z47542	CCDS9755.1	14q22	2008-08-11	2002-08-29		ENSG00000023608	ENSG00000023608			11134	protein-coding gene	gene with protein product		600591	"""small nuclear RNA activating complex, polypeptide 1, 43kD"""			9644240	Standard	NM_003082		Approved	SNAP43, PTFgamma	uc001xft.3	Q16533	OTTHUMG00000140343	ENST00000216294.4:c.773G>T	14.37:g.62245576G>T	ENSP00000216294:p.Arg258Met						p.R258M	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)	7	877	+			258			SNAPC4-binding.			Missense_Mutation	SNP	ENST00000216294.4	37	c.773G>T	CCDS9755.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148773	0.78001	.	.	ENSG00000023608	ENST00000216294	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.78426	0.4281	M	0.66939	2.045	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.79519	-0.1770	9	0.87932	D	0	-0.1745	17.5131	0.87765	0.0:0.0:1.0:0.0	.	258	Q16533	SNPC1_HUMAN	M	258	.	ENSP00000216294:R258M	R	+	2	0	SNAPC1	61315329	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.204000	0.65180	2.809000	0.96659	0.655000	0.94253	AGG		0.289	SNAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276976.2	NM_003082		5	151	5	151	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64518896	64518896	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:64518896C>A	ENST00000344113.4	+	48	8477	c.8265C>A	c.(8263-8265)ccC>ccA	p.P2755P	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.P2788P|SYNE2_ENST00000358025.3_Silent_p.P2755P	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2755					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTCCATTCCCCTTCTCCCAG	0.428																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8263-8265)ccC>ccA		spectrin repeat containing, nuclear envelope 2							209.0	194.0	199.0					14																	64518896		1935	4131	6066	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518896C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8265C>A	14.37:g.64518896C>A						SYNE2_ENST00000344113.4_Silent_p.P2755P|SYNE2_ENST00000554584.1_Silent_p.P2788P|SYNE2_ENST00000357395.3_5'UTR	p.P2755P	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8495	+			2755					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.8265C>A	CCDS41963.1																																																																																				0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		8	408	8	408	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64593108	64593108	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:64593108C>A	ENST00000344113.4	+	72	13830	c.13618C>A	c.(13618-13620)Ctc>Atc	p.L4540I	SYNE2_ENST00000555002.1_Missense_Mutation_p.L1174I|SYNE2_ENST00000394768.2_Missense_Mutation_p.L925I|SYNE2_ENST00000357395.3_Missense_Mutation_p.L925I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4491I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4540I|ESR2_ENST00000542956.1_Intron	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4540					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTCCTGACCCTCAGTCAGTG	0.423																																						ENST00000357395.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(2773-2775)Ctc>Atc		spectrin repeat containing, nuclear envelope 2							82.0	81.0	82.0					14																	64593108		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64593108C>A	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13618C>A	14.37:g.64593108C>A	ENSP00000341781:p.Leu4540Ile					SYNE2_ENST00000344113.4_Missense_Mutation_p.L4540I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L4491I|SYNE2_ENST00000394768.2_Missense_Mutation_p.L925I|SYNE2_ENST00000358025.3_Missense_Mutation_p.L4540I|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.L1174I	p.L925I			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	73	13917	+			4540					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.2773C>A	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216482	0.39201	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.56941	0.84;4.14;0.85;0.43;4.19;4.14	5.81	4.86	0.63082	.	0.145716	0.31542	N	0.007462	T	0.31918	0.0812	N	0.19112	0.55	0.80722	D	1	B;B;P	0.36683	0.065;0.429;0.565	B;B;B	0.29785	0.03;0.05;0.107	T	0.10613	-1.0622	10	0.23891	T	0.37	.	11.0437	0.47846	0.3092:0.6907:0.0:0.0	.	925;4540;4540	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	I	4540;925;4540;4491;4491;1174;925	ENSP00000350719:L4540I;ENSP00000349969:L925I;ENSP00000341781:L4540I;ENSP00000452570:L4491I;ENSP00000450831:L1174I;ENSP00000378249:L925I	ENSP00000261678:L4491I	L	+	1	0	SYNE2	63662861	0.463000	0.25799	0.964000	0.40570	0.934000	0.57294	1.917000	0.39996	2.741000	0.93983	0.655000	0.94253	CTC		0.423	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		5	151	5	151	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65220429	65220429	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:65220429C>A	ENST00000556626.1	-	33	6570	c.6428G>T	c.(6427-6429)gGg>gTg	p.G2143V	SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000389722.3_Missense_Mutation_p.G2143V			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTCTCATCCCCAGTGGATTT	0.647																																						ENST00000389722.3																			0				breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106						c.(6427-6429)gGg>gTg		spectrin, beta, erythrocytic							67.0	71.0	70.0					14																	65220429		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65220429C>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6428G>T	14.37:g.65220429C>A	ENSP00000451752:p.Gly2143Val					SPTB_ENST00000342835.4_5'UTR|SPTB_ENST00000556626.1_Missense_Mutation_p.G2143V	p.G2143V	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	32	6481	-		all_lung(585;4.15e-09)	0					Q15510|Q15519	Missense_Mutation	SNP	ENST00000556626.1	37	c.6428G>T	CCDS32099.1	.	.	.	.	.	.	.	.	.	.	C	9.130	1.011290	0.19277	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626	T;T;T	0.70516	-0.49;0.29;-0.49	5.6	-1.98	0.07480	.	0.562775	0.17731	N	0.163917	T	0.42063	0.1186	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.11397	-1.0589	10	0.30078	T	0.28	.	1.3678	0.02205	0.1242:0.2597:0.243:0.3732	.	927;2147	E7EV95;Q59FP5	.;.	V	2147;2143;927;808;2143	ENSP00000374372:G2143V;ENSP00000451324:G808V;ENSP00000451752:G2143V	ENSP00000334218:G927V	G	-	2	0	SPTB	64290182	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	0.061000	0.14366	-0.443000	0.07180	0.561000	0.74099	GGG		0.647	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414076.1			5	168	5	168	---	---	---	---
GPHN	10243	broad.mit.edu	37	14	67610144	67610144	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:67610144G>T	ENST00000315266.5	+	17	2836	c.1715G>T	c.(1714-1716)gGg>gTg	p.G572V	GPHN_ENST00000478722.1_Missense_Mutation_p.G605V|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.G541V|GPHN_ENST00000543237.1_Missense_Mutation_p.G618V	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	572	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATCACATCAGGGGGTGTATCC	0.423			T	MLL	AL																																	ENST00000478722.1				Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		0				large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12						c.(1813-1815)gGg>gTg		gephyrin							190.0	194.0	193.0					14																	67610144		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67610144G>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1715G>T	14.37:g.67610144G>T	ENSP00000312771:p.Gly572Val					GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.G541V|GPHN_ENST00000315266.5_Missense_Mutation_p.G572V|GPHN_ENST00000543237.1_Missense_Mutation_p.G618V	p.G605V	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	18	2935	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	572			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.1814G>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.857979	0.91433	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	D;D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28;-4.28	5.9	5.9	0.94986	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.99278	0.9748	H	0.99169	4.455	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98588	1.0653	10	0.87932	D	0	-6.187	19.0419	0.93004	0.0:0.0:1.0:0.0	.	541;618;572;605	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	V	572;605;618;541;97	ENSP00000312771:G572V;ENSP00000417901:G605V;ENSP00000438404:G618V;ENSP00000303019:G541V;ENSP00000452009:G97V	ENSP00000303019:G541V	G	+	2	0	GPHN	66679897	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.011000	0.93618	2.793000	0.96121	0.591000	0.81541	GGG		0.423	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		7	269	7	269	---	---	---	---
ZFP36L1	677	broad.mit.edu	37	14	69256411	69256411	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:69256411G>T	ENST00000439696.2	-	2	1157	c.856C>A	c.(856-858)Cct>Act	p.P286T	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.P286T	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	286					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AACATGTGAGGGGACTCGGAC	0.652											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000439696.2																			0				breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21						c.(856-858)Cct>Act		ZFP36 ring finger protein-like 1							56.0	66.0	63.0					14																	69256411		2203	4300	6503	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256411G>T	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.856C>A	14.37:g.69256411G>T	ENSP00000388402:p.Pro286Thr		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.P286T	p.P286T	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1157	-			286					Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.856C>A	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258674	0.59321	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.34859	1.34;1.34	4.66	2.83	0.33086	.	0.000000	0.85682	D	0.000000	T	0.52338	0.1728	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43940	-0.9360	10	0.33141	T	0.24	-5.7684	10.7556	0.46234	0.1546:0.0:0.8454:0.0	.	286	Q07352	TISB_HUMAN	T	286;286;269	ENSP00000388402:P286T;ENSP00000337386:P286T	ENSP00000337386:P286T	P	-	1	0	ZFP36L1	68326164	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.567000	0.98161	0.579000	0.29504	0.591000	0.81541	CCT		0.652	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			5	161	5	161	---	---	---	---
PAPLN	89932	broad.mit.edu	37	14	73730438	73730438	+	Missense_Mutation	SNP	C	C	A	rs373145744		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:73730438C>A	ENST00000554301.1	+	19	2972	c.2809C>A	c.(2809-2811)Ccg>Acg	p.P937T	PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000427855.1_Missense_Mutation_p.P937T|PAPLN_ENST00000381166.3_Missense_Mutation_p.P937T|PAPLN_ENST00000340738.5_Missense_Mutation_p.P910T|PAPLN_ENST00000555445.1_Missense_Mutation_p.P921T			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	937	Ig-like C2-type 1.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGACACTGCCCCGGAATCCCA	0.642																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(2809-2811)Ccg>Acg		papilin, proteoglycan-like sulfated glycoprotein							56.0	52.0	53.0					14																	73730438		2203	4300	6503	SO:0001583	missense	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73730438C>A	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.2809C>A	14.37:g.73730438C>A	ENSP00000451803:p.Pro937Thr					PAPLN_ENST00000340738.5_Missense_Mutation_p.P910T|PAPLN_ENST00000554301.1_Missense_Mutation_p.P937T|PAPLN_ENST00000554314.1_Intron|PAPLN_ENST00000381166.3_Missense_Mutation_p.P937T|PAPLN_ENST00000555445.1_Missense_Mutation_p.P921T	p.P937T			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	20	2911	+			937			Ig-like C2-type 1.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37	c.2809C>A		.	.	.	.	.	.	.	.	.	.	C	10.60	1.396010	0.25205	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	4.62	0.366	0.16136	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49575	0.1565	M	0.66297	2.02	0.09310	N	1	P;P;P;D;D	0.58268	0.814;0.846;0.818;0.982;0.97	B;P;B;P;P	0.53861	0.389;0.524;0.407;0.687;0.736	T	0.43556	-0.9384	9	0.27785	T	0.31	.	10.4693	0.44626	0.0:0.5536:0.3752:0.0711	.	921;937;937;136;910	O95428-5;O95428;O95428-4;O95428-2;O95428-6	.;PPN_HUMAN;.;.;.	T	910;937;937;937;921	ENSP00000345395:P910T;ENSP00000403403:P937T;ENSP00000370558:P937T;ENSP00000451803:P937T;ENSP00000451729:P921T	ENSP00000345395:P910T	P	+	1	0	PAPLN	72800191	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-0.462000	0.06704	-0.108000	0.12066	0.561000	0.74099	CCG		0.642	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		4	74	4	74	---	---	---	---
SYNDIG1L	646658	broad.mit.edu	37	14	74876080	74876080	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:74876080C>A	ENST00000554823.1	-	1	429	c.368G>T	c.(367-369)gGg>gTg	p.G123V	SYNDIG1L_ENST00000331628.3_Missense_Mutation_p.G123V			A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	123					response to biotic stimulus (GO:0009607)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CTCTTGTACCCCATAGGACAC	0.572																																						ENST00000331628.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						c.(367-369)gGg>gTg		synapse differentiation inducing 1-like							94.0	98.0	97.0					14																	74876080		2051	4206	6257	SO:0001583	missense	646658				response to biotic stimulus	Golgi apparatus|integral to membrane		g.chr14:74876080C>A		CCDS41970.1	14q24.3	2011-06-30	2011-06-30	2011-06-30		ENSG00000183379			32388	protein-coding gene	gene with protein product	"""caudate-and putamen-enriched sequence"", ""interferon induced transmembrane protein domain containing 4"""	609999	"""transmembrane protein 90A"""	TMEM90A		16359841	Standard	NM_001105579		Approved	capucin, IFITMD4	uc001xpx.2	A6NDD5		ENST00000554823.1:c.368G>T	14.37:g.74876080C>A	ENSP00000450439:p.Gly123Val					SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.G123V	p.G123V	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN			2	615	-			123						Missense_Mutation	SNP	ENST00000554823.1	37	c.368G>T	CCDS41970.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.915789	0.52546	.	.	ENSG00000183379	ENST00000331628;ENST00000554823	D;D	0.95272	-3.66;-3.66	4.63	3.65	0.41850	.	0.123149	0.53938	D	0.000058	D	0.87111	0.6096	L	0.29908	0.895	0.58432	D	0.999993	P	0.43477	0.808	B	0.37267	0.245	D	0.85603	0.1253	10	0.62326	D	0.03	-17.0755	4.361	0.11203	0.0:0.7678:0.0:0.2322	.	123	A6NDD5	SYN1L_HUMAN	V	123	ENSP00000331474:G123V;ENSP00000450439:G123V	ENSP00000331474:G123V	G	-	2	0	SYNDIG1L	73945833	1.000000	0.71417	0.076000	0.20297	0.540000	0.34992	5.713000	0.68415	2.402000	0.81655	0.467000	0.42956	GGG		0.572	SYNDIG1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412341.1	XM_938515		6	387	6	387	---	---	---	---
GPATCH2L	55668	broad.mit.edu	37	14	76633061	76633061	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:76633061G>T	ENST00000261530.7	+	3	784	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	GPATCH2L_ENST00000312858.5_Missense_Mutation_p.G240W|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.G240W|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.G240W	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	240																	CAATGATGAAGGGCGACAAGG	0.433																																						ENST00000261530.7																			0											c.(718-720)Ggg>Tgg		G patch domain containing 2-like							143.0	122.0	129.0					14																	76633061		2203	4300	6503	SO:0001583	missense	55668							g.chr14:76633061G>T	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.718G>T	14.37:g.76633061G>T	ENSP00000261530:p.Gly240Trp					GPATCH2L_ENST00000557263.1_Missense_Mutation_p.G240W|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.G240W|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.G240W	p.G240W	NM_017926.2	NP_060396.2					3	784	+								B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Missense_Mutation	SNP	ENST00000261530.7	37	c.718G>T	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141417	0.77775	.	.	ENSG00000089916	ENST00000336993;ENST00000557263;ENST00000312858;ENST00000261530;ENST00000556663	T;T;T;T	0.60672	0.65;0.28;0.17;0.65	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	T	0.74007	0.3660	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.77013	-0.2745	10	0.87932	D	0	-49.2247	16.7426	0.85463	0.0:0.0:1.0:0.0	.	240;240;240	Q9NWQ4-1;Q9NWQ4-4;Q9NWQ4	.;.;CN118_HUMAN	W	240	ENSP00000451587:G240W;ENSP00000323775:G240W;ENSP00000261530:G240W;ENSP00000450657:G240W	ENSP00000261530:G240W	G	+	1	0	C14orf118	75702814	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.455000	0.80726	2.363000	0.80096	0.591000	0.81541	GGG		0.433	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926		4	59	4	59	---	---	---	---
FLRT2	23768	broad.mit.edu	37	14	86088951	86088951	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:86088951C>A	ENST00000330753.4	+	2	1860	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T	FLRT2_ENST00000554746.1_Missense_Mutation_p.P365T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	365					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CACCACGACCCCCGGCCTGCC	0.572																																						ENST00000330753.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1093-1095)Ccc>Acc		fibronectin leucine rich transmembrane protein 2							75.0	84.0	81.0					14																	86088951		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088951C>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1093C>A	14.37:g.86088951C>A	ENSP00000332879:p.Pro365Thr					FLRT2_ENST00000554746.1_Missense_Mutation_p.P365T	p.P365T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1860	+			365					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1093C>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837080	0.32513	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.58652	0.32;0.32	6.07	6.07	0.98685	.	0.327380	0.34002	N	0.004358	T	0.39655	0.1086	N	0.08118	0	0.48975	D	0.999732	B	0.26363	0.147	B	0.15870	0.014	T	0.22977	-1.0201	10	0.20046	T	0.44	-17.4318	20.6439	0.99570	0.0:1.0:0.0:0.0	.	365	O43155	FLRT2_HUMAN	T	365;365;18	ENSP00000332879:P365T;ENSP00000451050:P365T	ENSP00000332879:P365T	P	+	1	0	FLRT2	85158704	0.974000	0.33945	0.966000	0.40874	0.979000	0.70002	3.862000	0.56009	2.884000	0.98904	0.655000	0.94253	CCC		0.572	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			5	153	5	153	---	---	---	---
KCNK13	56659	broad.mit.edu	37	14	90650658	90650658	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:90650658G>T	ENST00000282146.4	+	2	979	c.538G>T	c.(538-540)Ggg>Tgg	p.G180W		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	180					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GAAGGATGCGGGGCAGTGTGA	0.632																																						ENST00000282146.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(538-540)Ggg>Tgg		potassium channel, subfamily K, member 13							92.0	85.0	88.0					14																	90650658		2203	4300	6503	SO:0001583	missense	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650658G>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.538G>T	14.37:g.90650658G>T	ENSP00000282146:p.Gly180Trp						p.G180W	NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN			2	979	+		all_cancers(154;0.186)	180					B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	c.538G>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	8.993	0.978311	0.18812	.	.	ENSG00000152315	ENST00000282146	T	0.13538	2.58	4.96	3.01	0.34805	.	0.896444	0.09199	N	0.834977	T	0.18593	0.0446	L	0.46157	1.445	0.18873	N	0.999986	P	0.49783	0.928	P	0.48089	0.566	T	0.16512	-1.0400	10	0.72032	D	0.01	.	7.9248	0.29867	0.0901:0.0:0.7519:0.1581	.	180	Q9HB14	KCNKD_HUMAN	W	180	ENSP00000282146:G180W	ENSP00000282146:G180W	G	+	1	0	KCNK13	89720411	0.707000	0.27866	0.001000	0.08648	0.004000	0.04260	2.596000	0.46205	0.397000	0.25310	0.655000	0.94253	GGG		0.632	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		6	187	6	187	---	---	---	---
CATSPERB	79820	broad.mit.edu	37	14	92102831	92102831	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:92102831G>T	ENST00000256343.3	-	17	1836	c.1680C>A	c.(1678-1680)ccC>ccA	p.P560P		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	560					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCGTTTCCTGGGGTTCGTTCT	0.428																																						ENST00000256343.3																			0				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54						c.(1678-1680)ccC>ccA		catsper channel auxiliary subunit beta							166.0	150.0	155.0					14																	92102831		2203	4300	6503	SO:0001819	synonymous_variant	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92102831G>T	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1680C>A	14.37:g.92102831G>T							p.P560P	NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN			17	1836	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	560					A0AV51	Silent	SNP	ENST00000256343.3	37	c.1680C>A	CCDS32142.1																																																																																				0.428	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		6	207	6	207	---	---	---	---
UNC79	57578	broad.mit.edu	37	14	93994952	93994952	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:93994952C>A	ENST00000393151.2	+	9	1012	c.1012C>A	c.(1012-1014)Ccg>Acg	p.P338T	UNC79_ENST00000555664.1_Missense_Mutation_p.P338T|UNC79_ENST00000256339.4_Missense_Mutation_p.P161T|UNC79_ENST00000553484.1_Missense_Mutation_p.P338T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	338					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAAACCACCCCCGTTGTATCT	0.403																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1012-1014)Ccg>Acg		unc-79 homolog (C. elegans)							120.0	116.0	117.0					14																	93994952		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:93994952C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1012C>A	14.37:g.93994952C>A	ENSP00000376858:p.Pro338Thr					UNC79_ENST00000393151.2_Missense_Mutation_p.P338T|UNC79_ENST00000555664.1_Missense_Mutation_p.P338T|UNC79_ENST00000256339.4_Missense_Mutation_p.P161T	p.P338T			Q9P2D8	UNC79_HUMAN			9	1166	+			338					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1012C>A		.	.	.	.	.	.	.	.	.	.	C	24.2	4.507655	0.85282	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.26810	1.72;1.72;1.71;1.72	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000001	T	0.48352	0.1495	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.994	T	0.46735	-0.9170	10	0.87932	D	0	-14.4011	19.0659	0.93110	0.0:1.0:0.0:0.0	.	338;338	C9JQL1;Q9P2D8	.;UNC79_HUMAN	T	161;338;338;338;338	ENSP00000256339:P161T;ENSP00000450868:P338T;ENSP00000451360:P338T;ENSP00000376858:P338T	ENSP00000256339:P161T	P	+	1	0	KIAA1409	93064705	1.000000	0.71417	0.966000	0.40874	0.983000	0.72400	7.601000	0.82783	2.489000	0.83994	0.655000	0.94253	CCG		0.403	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		5	180	5	180	---	---	---	---
SERPINA10	51156	broad.mit.edu	37	14	94756493	94756493	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:94756493C>A	ENST00000393096.1	-	2	903	c.438G>T	c.(436-438)aaG>aaT	p.K146N	SERPINA10_ENST00000554723.1_Missense_Mutation_p.K186N|SERPINA10_ENST00000554173.1_Missense_Mutation_p.K146N|SERPINA10_ENST00000261994.4_Missense_Mutation_p.K146N	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	146	Heparin-binding.				blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTCTGAGTCCCTTAAAGAGGG	0.572																																						ENST00000554723.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(556-558)aaG>aaT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10							50.0	57.0	54.0					14																	94756493		2203	4300	6503	SO:0001583	missense	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94756493C>A	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.438G>T	14.37:g.94756493C>A	ENSP00000376809:p.Lys146Asn					SERPINA10_ENST00000554173.1_Missense_Mutation_p.K146N|SERPINA10_ENST00000393096.1_Missense_Mutation_p.K146N|SERPINA10_ENST00000261994.4_Missense_Mutation_p.K146N	p.K186N			Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	2	976	-		all_cancers(154;0.105)	146					A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	c.558G>T	CCDS9923.1	.	.	.	.	.	.	.	.	.	.	C	9.728	1.161433	0.21538	.	.	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	4.87	1.99	0.26369	Serpin domain (3);	0.497822	0.19020	N	0.124860	D	0.83599	0.5289	L	0.49126	1.545	0.09310	N	0.999993	P	0.39311	0.667	B	0.41619	0.361	T	0.76024	-0.3110	10	0.72032	D	0.01	.	2.4641	0.04548	0.2128:0.4022:0.0:0.385	.	146	Q9UK55	ZPI_HUMAN	N	186;146;146;146	ENSP00000450896:K186N;ENSP00000376809:K146N;ENSP00000261994:K146N;ENSP00000450971:K146N	ENSP00000261994:K146N	K	-	3	2	SERPINA10	93826246	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	0.525000	0.22956	0.451000	0.26802	0.313000	0.20887	AAG		0.572	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		6	185	6	185	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95557424	95557424	+	Silent	SNP	G	G	T	rs377325189		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:95557424G>T	ENST00000526495.1	-	28	5841	c.5550C>A	c.(5548-5550)ccC>ccA	p.P1850P	DICER1_ENST00000541352.1_Missense_Mutation_p.P1796H|DICER1_ENST00000393063.1_Silent_p.P1850P|DICER1_ENST00000556045.1_Silent_p.P748P|DICER1_ENST00000343455.3_Silent_p.P1850P|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000527414.1_Silent_p.P1850P			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1850	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAGGGGAACGGGGTACATTTG	0.303			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													ENST00000541352.1			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""Mis F, N"""	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma	"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""		0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75						c.(5386-5388)cCc>cAc		dicer 1, ribonuclease type III							54.0	54.0	54.0					14																	95557424		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Multinodular Goiter ;DICER 1 syndrome	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95557424G>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5550C>A	14.37:g.95557424G>T						DICER1_ENST00000343455.3_Silent_p.P1850P|DICER1_ENST00000556045.1_Silent_p.P748P|DICER1_ENST00000393063.1_Silent_p.P1850P|DICER1_ENST00000526495.1_Silent_p.P1850P|DICER1_ENST00000527414.1_Silent_p.P1850P|DICER1_ENST00000527416.2_5'UTR	p.P1796H	NM_001195573.1	NP_001182502.1	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	24	5395	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	0			RNase III 2.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.5387C>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355307	0.24512	.	.	ENSG00000100697	ENST00000541352	T	0.49720	0.77	5.93	3.67	0.42095	.	0.103382	0.64402	D	0.000002	T	0.41328	0.1154	.	.	.	0.24501	N	0.994254	.	.	.	.	.	.	T	0.27739	-1.0065	7	0.40728	T	0.16	-19.2926	6.2871	0.21039	0.1866:0.1424:0.671:0.0	.	.	.	.	H	1796	ENSP00000444719:P1796H	ENSP00000444719:P1796H	P	-	2	0	DICER1	94627177	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	0.489000	0.22387	0.537000	0.28751	0.655000	0.94253	CCC		0.303	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			5	138	5	138	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102472334	102472334	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:102472334C>A	ENST00000360184.4	+	27	5707	c.5543C>A	c.(5542-5544)cCt>cAt	p.P1848H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1848	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACTTTGACCCTAAGCAAACT	0.418																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(5542-5544)cCt>cAt		dynein, cytoplasmic 1, heavy chain 1							151.0	142.0	145.0					14																	102472334		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102472334C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5543C>A	14.37:g.102472334C>A	ENSP00000348965:p.Pro1848His						p.P1848H	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			27	5707	+			1848			Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5543C>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620173	0.66787	.	.	ENSG00000197102	ENST00000360184	T	0.30714	1.52	6.07	6.07	0.98685	.	0.050998	0.85682	D	0.000000	T	0.57417	0.2052	M	0.85197	2.74	0.80722	D	1	D	0.61080	0.989	P	0.55545	0.778	T	0.60870	-0.7177	10	0.62326	D	0.03	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1848	Q14204	DYHC1_HUMAN	H	1848	ENSP00000348965:P1848H	ENSP00000348965:P1848H	P	+	2	0	DYNC1H1	101542087	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	5.801000	0.69115	2.884000	0.98904	0.655000	0.94253	CCT		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		6	301	6	301	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102500413	102500413	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:102500413G>T	ENST00000360184.4	+	55	10678	c.10514G>T	c.(10513-10515)gGg>gTg	p.G3505V	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|DYNC1H1_ENST00000556791.1_3'UTR|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3505					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACCATTGCTGGGGACTGTCTC	0.488																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(10513-10515)gGg>gTg		dynein, cytoplasmic 1, heavy chain 1							199.0	198.0	198.0					14																	102500413		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102500413G>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.10514G>T	14.37:g.102500413G>T	ENSP00000348965:p.Gly3505Val					DYNC1H1_ENST00000556791.1_3'UTR	p.G3505V	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			55	10678	+			3505					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.10514G>T	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577267	0.86645	.	.	ENSG00000197102	ENST00000360184	D	0.83163	-1.69	5.32	5.32	0.75619	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.93963	0.8067	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95233	0.8344	10	0.87932	D	0	.	19.363	0.94448	0.0:0.0:1.0:0.0	.	3505	Q14204	DYHC1_HUMAN	V	3505	ENSP00000348965:G3505V	ENSP00000348965:G3505V	G	+	2	0	DYNC1H1	101570166	1.000000	0.71417	0.998000	0.56505	0.660000	0.38997	9.755000	0.98912	2.648000	0.89879	0.561000	0.74099	GGG		0.488	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		8	398	8	398	---	---	---	---
TNFAIP2	7127	broad.mit.edu	37	14	103601680	103601680	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:103601680C>A	ENST00000560869.1	+	12	2587	c.1948C>A	c.(1948-1950)Ctt>Att	p.L650I	TNFAIP2_ENST00000333007.1_Missense_Mutation_p.L650I|TNFAIP2_ENST00000451723.2_Missense_Mutation_p.L319I|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.L133I			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	650					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|exocytosis (GO:0006887)	exocyst (GO:0000145)|extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CCTATTTTCCCTTATAAAGGT	0.597																																						ENST00000560869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(1948-1950)Ctt>Att		tumor necrosis factor, alpha-induced protein 2							112.0	126.0	121.0					14																	103601680		2203	4300	6503	SO:0001583	missense	7127				angiogenesis|cell differentiation	extracellular space		g.chr14:103601680C>A		CCDS9979.1	14q32	2011-01-31				ENSG00000185215			11895	protein-coding gene	gene with protein product	"""exocyst complex component 3-like 3"""	603300				1374453	Standard	NM_006291		Approved	B94, EXOC3L3	uc001ymm.1	Q03169		ENST00000560869.1:c.1948C>A	14.37:g.103601680C>A	ENSP00000452634:p.Leu650Ile					TNFAIP2_ENST00000451723.2_Missense_Mutation_p.L319I|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.L133I|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.L650I	p.L650I			Q03169	TNAP2_HUMAN	Epithelial(46;0.191)		12	2587	+		Melanoma(154;0.155)	650					Q86VI0	Missense_Mutation	SNP	ENST00000560869.1	37	c.1948C>A	CCDS9979.1	.	.	.	.	.	.	.	.	.	.	c	12.42	1.932010	0.34096	.	.	ENSG00000185215	ENST00000333007;ENST00000451723;ENST00000538222	T;T;T	0.06768	3.26;3.26;3.26	4.54	1.61	0.23674	.	1.385860	0.04431	N	0.369208	T	0.17023	0.0409	L	0.50333	1.59	0.09310	N	1	B;P;D	0.53312	0.428;0.92;0.959	B;P;P	0.60236	0.109;0.726;0.871	T	0.20240	-1.0281	10	0.22109	T	0.4	-7.7238	3.7688	0.08633	0.1936:0.5983:0.0:0.2081	.	133;427;650	F6RNL3;A1A584;Q03169	.;.;TNAP2_HUMAN	I	650;319;133	ENSP00000332326:L650I;ENSP00000393256:L319I;ENSP00000446171:L133I	ENSP00000332326:L650I	L	+	1	0	TNFAIP2	102671433	0.004000	0.15560	0.008000	0.14137	0.738000	0.42128	0.602000	0.24134	0.464000	0.27142	0.291000	0.19559	CTT		0.597	TNFAIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415674.1	NM_006291		6	354	6	354	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105409232	105409232	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:105409232G>T	ENST00000333244.5	-	7	12675	c.12556C>A	c.(12556-12558)Cct>Act	p.P4186T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4186						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGGAAGGGGACTGAATG	0.657																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12556-12558)Cct>Act		AHNAK nucleoprotein 2							148.0	151.0	150.0					14																	105409232		1960	4132	6092	SO:0001583	missense	113146					nucleus		g.chr14:105409232G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12556C>A	14.37:g.105409232G>T	ENSP00000353114:p.Pro4186Thr					AHNAK2_ENST00000557457.1_Intron	p.P4186T	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12675	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4186					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12556C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	16.07	3.019634	0.54576	.	.	ENSG00000185567	ENST00000333244	T	0.02015	4.5	3.28	3.28	0.37604	.	0.301034	0.18010	U	0.154586	T	0.16428	0.0395	M	0.93106	3.38	0.21256	N	0.999745	D	0.89917	1.0	D	0.91635	0.999	T	0.04427	-1.0952	10	0.45353	T	0.12	.	13.769	0.63012	0.0:0.0:1.0:0.0	.	4186	Q8IVF2	AHNK2_HUMAN	T	4186	ENSP00000353114:P4186T	ENSP00000353114:P4186T	P	-	1	0	AHNAK2	104480277	0.990000	0.36364	0.075000	0.20258	0.050000	0.14768	3.346000	0.52190	1.685000	0.51034	0.306000	0.20318	CCT		0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	344	9	344	---	---	---	---
IGHV3-23	28442	broad.mit.edu	37	14	106725471	106725471	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:106725471C>A	ENST00000390609.2	-	0	159									immunoglobulin heavy variable 3-23																		CCAAGCCTCCCCCAGACTCCA	0.557																																						ENST00000390609.2																			0																				89.0	112.0	105.0					14																	106725471		1868	4114	5982			28442							g.chr14:106725471C>A	M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725471C>A														0	159	-									RNA	SNP	ENST00000390609.2	37																																																																																						0.557	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325188.1	NG_001019		6	217	6	217	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25444499	25444499	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:25444499G>T	ENST00000424208.1	+	0	1772				SNORD115-17_ENST00000364612.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GCTGAAGCGCGGGACCTACCT	0.632																																						ENST00000424208.1																			0																																																			104472715							g.chr15:25444499G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25444499G>T						SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	1772	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.632	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			4	79	4	79	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28370323	28370323	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:28370323C>A	ENST00000261609.7	-	84	12927	c.12819G>T	c.(12817-12819)tgG>tgT	p.W4273C		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)		CATTGTCGCCCCATGTATAAA	0.522																																						ENST00000261609.7																			0				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						c.(12817-12819)tgG>tgT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							204.0	185.0	192.0					15																	28370323		2203	4300	6503	SO:0001583	missense	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.chr15:28370323C>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.12819G>T	15.37:g.28370323C>A	ENSP00000261609:p.Trp4273Cys						p.W4273C	NM_004667.5	NP_004658.3	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)	84	12927	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4273						Missense_Mutation	SNP	ENST00000261609.7	37	c.12819G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338293	0.81911	.	.	ENSG00000128731	ENST00000261609	D	0.92348	-3.02	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.95968	0.8687	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96402	0.9297	10	0.87932	D	0	.	18.7201	0.91689	0.0:1.0:0.0:0.0	.	4273	O95714	HERC2_HUMAN	C	4273	ENSP00000261609:W4273C	ENSP00000261609:W4273C	W	-	3	0	HERC2	26043918	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.808000	0.86044	2.408000	0.81797	0.655000	0.94253	TGG		0.522	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		7	304	7	304	---	---	---	---
EMC4	51234	broad.mit.edu	37	15	34520689	34520689	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:34520689G>T	ENST00000267750.4	+	4	531	c.415G>T	c.(415-417)Ggg>Tgg	p.G139W	EMC4_ENST00000249209.4_Intron|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron	NM_016454.2	NP_057538.1	Q5J8M3	EMC4_HUMAN	ER membrane protein complex subunit 4	139					apoptotic process (GO:0006915)	ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CTATCTCATTGGGAACCTGAT	0.448																																						ENST00000267750.4																			0											c.(415-417)Ggg>Tgg		ER membrane protein complex subunit 4							211.0	193.0	199.0					15																	34520689		2201	4298	6499	SO:0001583	missense	51234							g.chr15:34520689G>T	BC016348	CCDS10035.1, CCDS66732.1	15q14	2012-05-23	2012-05-23	2012-05-23	ENSG00000128463	ENSG00000128463			28032	protein-coding gene	gene with protein product			"""transmembrane protein 85"""	TMEM85		18586032, 22119785	Standard	NM_001286420		Approved	FLJ90746, MGC24415, PIG17	uc001zhq.3	Q5J8M3	OTTHUMG00000129411	ENST00000267750.4:c.415G>T	15.37:g.34520689G>T	ENSP00000267750:p.Gly139Trp					EMC4_ENST00000559078.1_Intron|EMC4_ENST00000557879.1_3'UTR|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000249209.4_Intron	p.G139W	NM_016454.2	NP_057538.1					4	531	+								A8K3A9|B4DJQ4|Q96KX9|Q9BUI5|Q9P0T9	Missense_Mutation	SNP	ENST00000267750.4	37	c.415G>T	CCDS10035.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752815	0.89753	.	.	ENSG00000128463	ENST00000267750	T	0.44881	0.91	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.68165	0.2971	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65088	-0.6253	10	0.38643	T	0.18	-14.8081	19.3116	0.94189	0.0:0.0:1.0:0.0	.	139	Q5J8M3	TMM85_HUMAN	W	139	ENSP00000267750:G139W	ENSP00000267750:G139W	G	+	1	0	TMEM85	32307981	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.801000	0.91905	2.864000	0.98301	0.549000	0.68633	GGG		0.448	EMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251568.1	NM_016454		7	400	7	400	---	---	---	---
MEIS2	4212	broad.mit.edu	37	15	37184642	37184642	+	Missense_Mutation	SNP	C	C	A	rs531139958		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:37184642C>A	ENST00000561208.1	-	12	1584	c.1166G>T	c.(1165-1167)gGg>gTg	p.G389V	MEIS2_ENST00000338564.5_Missense_Mutation_p.G382V|MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.G382V|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000424352.2_3'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2	389	Transcriptional activation domain.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.G389V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AACGTAGTCCCCTGGCATGCT	0.433																																						ENST00000338564.5																			1	Substitution - Missense(1)	p.G389V(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36						c.(1144-1146)gGg>gTg		Meis homeobox 2							162.0	164.0	163.0					15																	37184642		2201	4297	6498	SO:0001583	missense	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37184642C>A	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1166G>T	15.37:g.37184642C>A	ENSP00000453793:p.Gly389Val					MEIS2_ENST00000561208.1_Missense_Mutation_p.G389V|MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.G382V|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000340545.5_3'UTR	p.G382V	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	13	1591	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	389					A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	ENST00000561208.1	37	c.1145G>T	CCDS10044.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571417	0.45798	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766	D;D	0.87256	-2.23;-2.23	5.24	4.32	0.51571	.	0.061993	0.64402	D	0.000004	D	0.91994	0.7464	M	0.66939	2.045	0.80722	D	1	D;D;P;D	0.89917	0.963;1.0;0.79;1.0	P;D;B;D	0.85130	0.692;0.981;0.297;0.997	D	0.91910	0.5539	10	0.48119	T	0.1	-4.9063	14.0407	0.64674	0.0:0.9273:0.0:0.0727	.	382;389;369;85	O14770-4;O14770;B7Z6F6;Q6V703	.;MEIS2_HUMAN;.;.	V	389;382;382	ENSP00000341400:G382V;ENSP00000372216:G382V	ENSP00000326296:G389V	G	-	2	0	MEIS2	34971934	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.601000	0.82783	1.427000	0.47276	0.655000	0.94253	GGG		0.433	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		7	404	7	404	---	---	---	---
VPS18	57617	broad.mit.edu	37	15	41192388	41192388	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:41192388C>A	ENST00000220509.5	+	4	1711	c.1372C>A	c.(1372-1374)Ctc>Atc	p.L458I	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	458					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAGATTGCCCTCAAGTTCCT	0.617																																						ENST00000220509.5																			0				autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28						c.(1372-1374)Ctc>Atc		vacuolar protein sorting 18 homolog (S. cerevisiae)							57.0	62.0	61.0					15																	41192388		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192388C>A	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1372C>A	15.37:g.41192388C>A	ENSP00000220509:p.Leu458Ile					VPS18_ENST00000558474.1_Intron	p.L458I	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1711	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	458					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1372C>A	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781713	0.70222	.	.	ENSG00000104142	ENST00000220509	T	0.21734	1.99	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.54415	0.1857	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.59516	-0.7440	10	0.52906	T	0.07	-32.9475	19.3228	0.94248	0.0:1.0:0.0:0.0	.	458	Q9P253	VPS18_HUMAN	I	458	ENSP00000220509:L458I	ENSP00000220509:L458I	L	+	1	0	VPS18	38979680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.986000	0.56937	2.633000	0.89246	0.561000	0.74099	CTC		0.617	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			5	163	5	163	---	---	---	---
CKMT1B	1159	broad.mit.edu	37	15	43891443	43891443	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:43891443C>A	ENST00000441322.1	+	9	1586	c.1226C>A	c.(1225-1227)cCc>cAc	p.P409H	CKMT1B_ENST00000300283.6_Missense_Mutation_p.P409H			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	409					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	ATCCGCATCCCCACACCTGTC	0.502																																						ENST00000300283.6																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(1225-1227)cCc>cAc		creatine kinase, mitochondrial 1B	Creatine(DB00148)						149.0	133.0	138.0					15																	43891443		2200	4294	6494	SO:0001583	missense	1159				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity	g.chr15:43891443C>A	AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.1226C>A	15.37:g.43891443C>A	ENSP00000413255:p.Pro409His					CKMT1B_ENST00000441322.1_Missense_Mutation_p.P409H	p.P409H	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	10	1618	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	409					B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Missense_Mutation	SNP	ENST00000441322.1	37	c.1226C>A	CCDS10097.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009638	0.35415	.	.	ENSG00000237289	ENST00000300283;ENST00000441322	T;T	0.21932	1.98;1.98	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.45377	0.1339	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.984;1.0	P;D	0.81914	0.834;0.995	T	0.48317	-0.9046	10	0.59425	D	0.04	-15.053	15.6816	0.77373	0.0:1.0:0.0:0.0	.	440;409	P12532-2;P12532	.;KCRU_HUMAN	H	409	ENSP00000300283:P409H;ENSP00000413255:P409H	ENSP00000300283:P409H	P	+	2	0	CKMT1B	41678735	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	5.925000	0.70062	2.247000	0.74100	0.313000	0.20887	CCC		0.502	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990		5	159	5	159	---	---	---	---
CASC4	113201	broad.mit.edu	37	15	44671971	44671971	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:44671971C>A	ENST00000345795.2	+	7	1156	c.886C>A	c.(886-888)Cca>Aca	p.P296T	CASC4_ENST00000299957.6_Missense_Mutation_p.P296T|CASC4_ENST00000360824.3_3'UTR	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	296						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		ACCTCTCTCCCCAAATATGCC	0.353																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(886-888)Cca>Aca		cancer susceptibility candidate 4							120.0	125.0	123.0					15																	44671971		2198	4298	6496	SO:0001583	missense	113201					integral to membrane		g.chr15:44671971C>A	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.886C>A	15.37:g.44671971C>A	ENSP00000335063:p.Pro296Thr					CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000345795.2_Missense_Mutation_p.P296T	p.P296T	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	7	1185	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	296					B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	ENST00000345795.2	37	c.886C>A	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.232428	0.39498	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	5.46	1.42	0.22433	.	0.498148	0.22272	N	0.062249	T	0.55226	0.1907	L	0.59436	1.845	0.58432	D	0.999998	P;B;D	0.61697	0.836;0.449;0.99	B;B;P	0.59595	0.44;0.185;0.86	T	0.52465	-0.8572	9	0.15952	T	0.53	.	5.901	0.18965	0.0:0.5369:0.2968:0.1663	.	296;296;296	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	T	296;296;275	.	ENSP00000299957:P296T	P	+	1	0	CASC4	42459263	0.505000	0.26131	0.585000	0.28666	0.919000	0.55068	0.825000	0.27393	0.015000	0.14971	0.655000	0.94253	CCA		0.353	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		6	294	6	294	---	---	---	---
HDC	3067	broad.mit.edu	37	15	50534614	50534614	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:50534614C>A	ENST00000267845.3	-	12	2234	c.1832G>T	c.(1831-1833)aGg>aTg	p.R611M	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.R578M	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		GATTCTGACCCTGGAGGAGCC	0.502																																					GBM(95;1627 1936 6910 9570)	ENST00000267845.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1831-1833)aGg>aTg		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						116.0	133.0	127.0					15																	50534614		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534614C>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1832G>T	15.37:g.50534614C>A	ENSP00000267845:p.Arg611Met					HDC_ENST00000543581.1_Missense_Mutation_p.R578M	p.R611M	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	2234	-		all_lung(180;0.0138)	611						Missense_Mutation	SNP	ENST00000267845.3	37	c.1832G>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	9.648	1.140806	0.21205	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.10573	2.97;2.86	5.48	3.46	0.39613	.	0.306999	0.23107	N	0.051852	T	0.09468	0.0233	L	0.29908	0.895	0.09310	N	1	P;B	0.38642	0.641;0.412	B;B	0.40702	0.338;0.125	T	0.14755	-1.0461	10	0.87932	D	0	-20.2321	8.1457	0.31110	0.0:0.6093:0.3046:0.0862	.	578;611	B7ZM01;P19113	.;DCHS_HUMAN	M	611;578	ENSP00000267845:R611M;ENSP00000440252:R578M	ENSP00000267845:R611M	R	-	2	0	HDC	48321906	0.000000	0.05858	0.040000	0.18447	0.520000	0.34377	0.621000	0.24418	1.280000	0.44463	0.563000	0.77884	AGG		0.502	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			7	395	7	395	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51763506	51763506	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:51763506G>T	ENST00000251076.5	-	29	7590	c.7303C>A	c.(7303-7305)Cca>Aca	p.P2435T	DMXL2_ENST00000449909.3_Missense_Mutation_p.P1799T|DMXL2_ENST00000543779.2_Missense_Mutation_p.P2436T|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2435						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)		ACCGGTGGTGGGGTAGCATCT	0.433																																						ENST00000251076.5																			0				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						c.(7303-7305)Cca>Aca		Dmx-like 2							190.0	185.0	186.0					15																	51763506		2196	4293	6489	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51763506G>T	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.7303C>A	15.37:g.51763506G>T	ENSP00000251076:p.Pro2435Thr					DMXL2_ENST00000543779.2_Missense_Mutation_p.P2436T|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.P1799T	p.P2435T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	29	7590	-			2435					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7303C>A	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275993	0.80580	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.23348	2.05;2.05;1.91	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.42630	0.1211	L	0.47716	1.5	0.80722	D	1	D;D;D;B	0.89917	0.999;0.999;1.0;0.049	D;D;D;B	0.83275	0.934;0.991;0.996;0.027	T	0.06899	-1.0801	10	0.08179	T	0.78	.	19.1462	0.93469	0.0:0.0:1.0:0.0	.	2436;1799;2435;2436	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	T	2435;2436;1799	ENSP00000251076:P2435T;ENSP00000441858:P2436T;ENSP00000400855:P1799T	ENSP00000251076:P2435T	P	-	1	0	DMXL2	49550798	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.985000	0.93487	2.758000	0.94735	0.561000	0.74099	CCA		0.433	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		7	426	7	426	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52675337	52675337	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:52675337G>T	ENST00000399231.3	-	16	2206	c.1963C>A	c.(1963-1965)Cct>Act	p.P655T	MYO5A_ENST00000553916.1_Missense_Mutation_p.P655T|MYO5A_ENST00000399233.2_Missense_Mutation_p.P655T|MYO5A_ENST00000356338.6_Missense_Mutation_p.P655T|MYO5A_ENST00000358212.6_Missense_Mutation_p.P655T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	655	Actin-binding. {ECO:0000255}.|Myosin motor.				actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACATAGTGAGGGGTAGTGGCA	0.438																																						ENST00000399231.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(1963-1965)Cct>Act		myosin VA (heavy chain 12, myoxin)							186.0	172.0	177.0					15																	52675337		1976	4169	6145	SO:0001583	missense	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52675337G>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.1963C>A	15.37:g.52675337G>T	ENSP00000382177:p.Pro655Thr					MYO5A_ENST00000356338.6_Missense_Mutation_p.P655T|MYO5A_ENST00000358212.6_Missense_Mutation_p.P655T|MYO5A_ENST00000399233.2_Missense_Mutation_p.P655T|MYO5A_ENST00000553916.1_Missense_Mutation_p.P655T	p.P655T	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	16	2206	-			655			Actin-binding (Potential).|Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	ENST00000399231.3	37	c.1963C>A	CCDS42037.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835086	0.91117	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.68	5.68	0.88126	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96460	0.8845	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.983	D	0.96744	0.9549	10	0.87932	D	0	.	19.7912	0.96458	0.0:0.0:1.0:0.0	.	655;655	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	T	655;189;655;655;655;285;655	ENSP00000382177:P655T;ENSP00000382179:P655T;ENSP00000348693:P655T;ENSP00000350945:P655T;ENSP00000451109:P655T	ENSP00000348693:P655T	P	-	1	0	MYO5A	50462629	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.694000	0.91930	0.557000	0.71058	CCT		0.438	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		7	293	7	293	---	---	---	---
ONECUT1	3175	broad.mit.edu	37	15	53081150	53081150	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:53081150G>T	ENST00000305901.5	-	1	1059	c.932C>A	c.(931-933)cCa>cAa	p.P311Q	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	311					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GATGGCCTGTGGGATGCTGTA	0.602																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(931-933)cCa>cAa		one cut homeobox 1							150.0	132.0	138.0					15																	53081150		2194	4293	6487	SO:0001583	missense	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081150G>T	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.932C>A	15.37:g.53081150G>T	ENSP00000302630:p.Pro311Gln					ONECUT1_ENST00000561401.2_Intron	p.P311Q	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	1059	-			311					B2RTV4|Q99744|Q9UMR6	Missense_Mutation	SNP	ENST00000305901.5	37	c.932C>A	CCDS10150.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095616	0.76870	.	.	ENSG00000169856	ENST00000305901	T	0.54479	0.57	4.73	4.73	0.59995	Homeodomain protein CUT (2);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	M	0.84948	2.725	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.80502	-0.1354	10	0.87932	D	0	-3.6791	16.4501	0.83977	0.0:0.0:1.0:0.0	.	311	Q9UBC0	HNF6_HUMAN	Q	311	ENSP00000302630:P311Q	ENSP00000302630:P311Q	P	-	2	0	ONECUT1	50868442	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.587000	0.98229	2.437000	0.82529	0.609000	0.83330	CCA		0.602	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			4	133	4	133	---	---	---	---
DYX1C1	161582	broad.mit.edu	37	15	55742473	55742473	+	Missense_Mutation	SNP	G	G	T	rs374673795		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:55742473G>T	ENST00000321149.3	-	6	1097	c.730C>A	c.(730-732)Cct>Act	p.P244T	DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Missense_Mutation_p.P244T|DYX1C1_ENST00000380679.1_Missense_Mutation_p.P244T|DYX1C1_ENST00000448430.2_Missense_Mutation_p.P244T|DYX1C1_ENST00000348518.3_Missense_Mutation_p.P244T	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	244					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AATACTCGAGGGGTAAAGTTG	0.363																																						ENST00000321149.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(730-732)Cct>Act		dyslexia susceptibility 1 candidate 1							91.0	90.0	91.0					15																	55742473		2193	4292	6485	SO:0001583	missense	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55742473G>T		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.730C>A	15.37:g.55742473G>T	ENSP00000323275:p.Pro244Thr					DYX1C1_ENST00000380679.1_Missense_Mutation_p.P244T|DYX1C1_ENST00000348518.3_Missense_Mutation_p.P244T|DYX1C1_ENST00000457155.2_Missense_Mutation_p.P244T|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.P244T	p.P244T	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	6	1097	-			244					Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.730C>A	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828645	0.71258	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.64	5.64	0.86602	.	0.071053	0.56097	U	0.000026	T	0.71600	0.3359	L	0.58810	1.83	0.42331	D	0.992293	P;D;D	0.89917	0.776;0.968;1.0	P;P;D	0.91635	0.644;0.806;0.999	T	0.73157	-0.4071	10	0.72032	D	0.01	.	13.0465	0.58928	0.0783:0.0:0.9217:0.0	.	244;244;244	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	T	244	ENSP00000403412:P244T;ENSP00000370054:P244T;ENSP00000402640:P244T;ENSP00000323275:P244T;ENSP00000299561:P244T	ENSP00000323275:P244T	P	-	1	0	DYX1C1	53529765	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.413000	0.52686	2.834000	0.97654	0.650000	0.86243	CCT		0.363	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		5	162	5	162	---	---	---	---
ALDH1A2	8854	broad.mit.edu	37	15	58306166	58306166	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:58306166G>A	ENST00000249750.4	-	3	1020	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	85					9-cis-retinoic acid biosynthetic process (GO:0042904)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|cardiac muscle tissue development (GO:0048738)|cellular response to retinoic acid (GO:0071300)|determination of bilateral symmetry (GO:0009855)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract development (GO:0048566)|embryonic forelimb morphogenesis (GO:0035115)|face development (GO:0060324)|heart morphogenesis (GO:0003007)|hindbrain development (GO:0030902)|kidney development (GO:0001822)|liver development (GO:0001889)|lung development (GO:0030324)|midgut development (GO:0007494)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|neural crest cell development (GO:0014032)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|proximal/distal pattern formation (GO:0009954)|regulation of endothelial cell proliferation (GO:0001936)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to vitamin A (GO:0033189)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)|retinoic acid receptor signaling pathway (GO:0048384)|retinol metabolic process (GO:0042572)|ureter maturation (GO:0035799)|vitamin A metabolic process (GO:0006776)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|retinal binding (GO:0016918)|retinal dehydrogenase activity (GO:0001758)	p.R85S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	Tretinoin(DB00755)|Vitamin A(DB00162)	AAAGCCAGGCGGGCTGCCTGC	0.498																																						ENST00000249750.4																			1	Substitution - Missense(1)	p.R85S(1)	lung(1)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(253-255)Cgc>Tgc		aldehyde dehydrogenase 1 family, member A2	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)						192.0	211.0	204.0					15																	58306166		2192	4292	6484	SO:0001583	missense	8854				negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	g.chr15:58306166G>A	AB015228	CCDS10163.1, CCDS10164.1, CCDS45266.1, CCDS55968.1	15q21.2	2011-02-18			ENSG00000128918	ENSG00000128918		"""Aldehyde dehydrogenases"""	15472	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 2"""	603687				9819382	Standard	NM_003888		Approved	RALDH2	uc002aex.3	O94788	OTTHUMG00000132624	ENST00000249750.4:c.253C>T	15.37:g.58306166G>A	ENSP00000249750:p.Arg85Cys					ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C|ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C	p.R85C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN		GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	3	1020	-			85					B3KY52|B4DZR2|F5H2Y9|H0YM00|Q2PJS6|Q8NHQ4|Q9UBR8|Q9UFY0	Missense_Mutation	SNP	ENST00000249750.4	37	c.253C>T	CCDS10163.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824484	0.50739	.	.	ENSG00000128918	ENST00000249750;ENST00000543386;ENST00000347587;ENST00000537372	T;T;T	0.78126	-1.15;2.15;-1.15	4.69	3.77	0.43336	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.90875	0.7133	H	0.96547	3.84	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.973;0.954;0.99;0.995	D	0.92736	0.6204	10	0.87932	D	0	.	12.2655	0.54676	0.0:0.0:0.6916:0.3084	.	56;64;85;85	B4DH89;F5H2Y9;O94788-2;O94788	.;.;.;AL1A2_HUMAN	C	85;56;85;64	ENSP00000249750:R85C;ENSP00000309623:R85C;ENSP00000438296:R64C	ENSP00000249750:R85C	R	-	1	0	ALDH1A2	56093458	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.298000	0.78815	1.180000	0.42898	-0.169000	0.13324	CGC		0.498	ALDH1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255869.1			7	547	7	547	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59180632	59180632	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:59180632C>A	ENST00000380516.2	-	17	2414	c.2327G>T	c.(2326-2328)aGg>aTg	p.R776M	SLTM_ENST00000536328.1_Missense_Mutation_p.R345M|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	776	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAACCTGCCCCTCTCTCGGTG	0.388																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2326-2328)aGg>aTg		SAFB-like, transcription modulator							130.0	120.0	123.0					15																	59180632		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59180632C>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2327G>T	15.37:g.59180632C>A	ENSP00000369887:p.Arg776Met					SLTM_ENST00000536328.1_Missense_Mutation_p.R345M	p.R776M	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			17	2414	-			776			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.2327G>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	33	5.268685	0.95429	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.23147	1.92	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000010	T	0.54334	0.1852	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.48937	-0.8990	10	0.56958	D	0.05	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	776;345	Q9NWH9;A8K5V8	SLTM_HUMAN;.	M	776;342;345	ENSP00000369887:R776M	ENSP00000369887:R776M	R	-	2	0	SLTM	56967924	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.625000	0.83145	2.885000	0.99019	0.655000	0.94253	AGG		0.388	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		6	228	6	228	---	---	---	---
MYO1E	4643	broad.mit.edu	37	15	59510201	59510201	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:59510201C>A	ENST00000288235.4	-	10	1395	c.996G>T	c.(994-996)tgG>tgT	p.W332C	AC092756.1_ENST00000401164.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	332	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		ATTTGCCTCCCCACTTGCTAT	0.517																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(994-996)tgG>tgT		myosin IE							187.0	169.0	175.0					15																	59510201		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59510201C>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.996G>T	15.37:g.59510201C>A	ENSP00000288235:p.Trp332Cys						p.W332C	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	10	1395	-			332			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.996G>T	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111312	0.77210	.	.	ENSG00000157483	ENST00000288235	D	0.86432	-2.12	4.69	4.69	0.59074	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.94722	0.8297	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94713	0.7894	10	0.41790	T	0.15	.	17.8209	0.88650	0.0:1.0:0.0:0.0	.	332	Q12965	MYO1E_HUMAN	C	332	ENSP00000288235:W332C	ENSP00000288235:W332C	W	-	3	0	MYO1E	57297493	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.651000	0.83577	2.437000	0.82529	0.462000	0.41574	TGG		0.517	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		6	269	6	269	---	---	---	---
SPESP1	246777	broad.mit.edu	37	15	69238017	69238017	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:69238017C>A	ENST00000310673.3	+	2	298	c.144C>A	c.(142-144)ccC>ccA	p.P48P	RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	48					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GAAGTGTTCCCTCTGGGGAGC	0.373																																						ENST00000310673.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(142-144)ccC>ccA		sperm equatorial segment protein 1							87.0	91.0	90.0					15																	69238017		2200	4298	6498	SO:0001819	synonymous_variant	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238017C>A	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.144C>A	15.37:g.69238017C>A						RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron	p.P48P	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN			2	298	+			48					Q8NG22|Q8WVH8	Silent	SNP	ENST00000310673.3	37	c.144C>A	CCDS10230.1																																																																																				0.373	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		7	227	7	227	---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70358460	70358460	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:70358460G>T	ENST00000558939.1	-	7	1847	c.470C>A	c.(469-471)cCc>cAc	p.P157H	TLE3_ENST00000451782.2_Missense_Mutation_p.P157H|TLE3_ENST00000560589.1_Missense_Mutation_p.P101H|TLE3_ENST00000557907.1_Missense_Mutation_p.P157H|TLE3_ENST00000558201.1_Missense_Mutation_p.P163H|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000557997.1_Missense_Mutation_p.P157H|TLE3_ENST00000539550.1_Missense_Mutation_p.P101H|TLE3_ENST00000440567.3_Missense_Mutation_p.P150H|TLE3_ENST00000559048.1_Missense_Mutation_p.P162H|TLE3_ENST00000442299.2_Missense_Mutation_p.P157H|TLE3_ENST00000559929.1_Missense_Mutation_p.P167H|TLE3_ENST00000558379.1_Missense_Mutation_p.P157H|TLE3_ENST00000560939.1_Missense_Mutation_p.P162H|TLE3_ENST00000317509.8_Missense_Mutation_p.P157H	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	157	Gly/Pro-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTCACTGGGGGGATTCCTGG	0.667																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(469-471)cCc>cAc		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							21.0	25.0	24.0					15																	70358460		1976	4165	6141	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70358460G>T	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.470C>A	15.37:g.70358460G>T	ENSP00000452871:p.Pro157His					TLE3_ENST00000440567.3_Missense_Mutation_p.P150H|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000557907.1_Missense_Mutation_p.P157H|TLE3_ENST00000559929.1_Missense_Mutation_p.P167H|TLE3_ENST00000442299.2_Missense_Mutation_p.P157H|TLE3_ENST00000560939.1_Missense_Mutation_p.P162H|TLE3_ENST00000558201.1_Missense_Mutation_p.P163H|TLE3_ENST00000559048.1_Missense_Mutation_p.P162H|TLE3_ENST00000451782.2_Missense_Mutation_p.P157H|TLE3_ENST00000558379.1_Missense_Mutation_p.P157H|TLE3_ENST00000560589.1_Missense_Mutation_p.P101H|TLE3_ENST00000557997.1_Missense_Mutation_p.P157H|TLE3_ENST00000317509.8_Missense_Mutation_p.P157H|TLE3_ENST00000539550.1_Missense_Mutation_p.P101H	p.P157H	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN			7	1847	-			157			Gly/Pro-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.470C>A	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.134205	0.56828	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.56444	0.66;0.72;0.84;0.72;0.46	5.56	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.73976	0.3656	M	0.83012	2.62	0.80722	D	1	B;B;B;B;B;B;B;D	0.89917	0.077;0.083;0.016;0.377;0.036;0.048;0.077;1.0	B;B;B;B;B;B;B;D	0.75484	0.067;0.111;0.028;0.167;0.042;0.077;0.067;0.986	T	0.76812	-0.2821	10	0.44086	T	0.13	-18.511	15.8953	0.79329	0.0:0.0:0.8636:0.1364	.	150;157;157;157;157;157;162;101	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	H	157;157;157;150;101	ENSP00000390007:P157H;ENSP00000394717:P157H;ENSP00000319233:P157H;ENSP00000415057:P150H;ENSP00000442594:P101H	ENSP00000319233:P157H	P	-	2	0	TLE3	68145514	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.569000	0.98170	1.331000	0.45412	0.655000	0.94253	CCC		0.667	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		4	47	4	47	---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72553902	72553902	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:72553902G>T	ENST00000569795.1	-	9	1229	c.542C>A	c.(541-543)cCc>cAc	p.P181H	PARP6_ENST00000287196.9_Missense_Mutation_p.P181H|PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.P181H			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	181							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CACTTACTTGGGGATGGGTGA	0.488																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(541-543)cCc>cAc		poly (ADP-ribose) polymerase family, member 6							222.0	222.0	222.0					15																	72553902		1985	4150	6135	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72553902G>T	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.542C>A	15.37:g.72553902G>T	ENSP00000456348:p.Pro181His					PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.P181H|PARP6_ENST00000287196.9_Missense_Mutation_p.P181H	p.P181H			Q2NL67	PARP6_HUMAN			9	1229	-			181					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.542C>A	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	g	14.82	2.649962	0.47362	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520;ENST00000336471	.	.	.	4.56	4.56	0.56223	.	0.050139	0.85682	D	0.000000	T	0.49847	0.1581	N	0.19112	0.55	0.41707	D	0.989437	P;D;P	0.63880	0.472;0.993;0.906	B;P;P	0.53185	0.205;0.72;0.533	T	0.51608	-0.8684	9	0.37606	T	0.19	.	16.3158	0.82923	0.0:0.0:1.0:0.0	.	181;181;133	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	H	181;181;181;46;46;181	.	ENSP00000260376:P181H	P	-	2	0	PARP6	70340956	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.703000	0.84585	2.244000	0.73946	0.436000	0.28706	CCC		0.488	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		6	386	6	386	---	---	---	---
C15orf59	388135	broad.mit.edu	37	15	74043425	74043425	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:74043425G>T	ENST00000569673.1	-	2	1251	c.47C>A	c.(46-48)cCc>cAc	p.P16H	C15orf59_ENST00000379822.4_Missense_Mutation_p.P16H			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	16										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACCACTGCTGGGGTCGTCACT	0.652																																						ENST00000569673.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(46-48)cCc>cAc		chromosome 15 open reading frame 59							70.0	62.0	65.0					15																	74043425		2198	4297	6495	SO:0001583	missense	388135							g.chr15:74043425G>T		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.47C>A	15.37:g.74043425G>T	ENSP00000457205:p.Pro16His					C15orf59_ENST00000379822.4_Missense_Mutation_p.P16H	p.P16H			Q2T9L4	CO059_HUMAN			2	1251	-			16						Missense_Mutation	SNP	ENST00000569673.1	37	c.47C>A	CCDS32289.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172717	0.78452	.	.	ENSG00000205363	ENST00000379822	.	.	.	4.82	3.91	0.45181	.	0.380199	0.27088	N	0.020997	T	0.52025	0.1709	L	0.27053	0.805	0.51012	D	0.999907	D	0.63046	0.992	P	0.57548	0.823	T	0.54715	-0.8252	9	0.87932	D	0	.	9.8739	0.41191	0.0964:0.0:0.9036:0.0	.	16	Q2T9L4	CO059_HUMAN	H	16	.	ENSP00000369150:P16H	P	-	2	0	C15orf59	71830478	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.376000	0.66178	1.027000	0.39758	0.561000	0.74099	CCC		0.652	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	NM_001039614		5	106	5	106	---	---	---	---
PML	5371	broad.mit.edu	37	15	74328275	74328275	+	Intron	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:74328275C>A	ENST00000268058.3	+	7	1806				PML_ENST00000564428.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000354026.6_Missense_Mutation_p.R777S|PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_Missense_Mutation_p.R825S|PML_ENST00000565898.1_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCAGGCGCCCGTCAAGCAGG	0.622			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000268059.6				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(2473-2475)Cgt>Agt		promyelocytic leukemia							122.0	149.0	140.0					15																	74328275		2198	4297	6495	SO:0001627	intron_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74328275C>A	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+1404C>A	15.37:g.74328275C>A						PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Missense_Mutation_p.R777S|PML_ENST00000268058.3_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR	p.R825S	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN			8	2569	+			0					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	c.2473C>A	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	9.874	1.199655	0.22121	.	.	ENSG00000140464	ENST00000268059;ENST00000354026	.	.	.	3.59	0.441	0.16577	.	.	.	.	.	T	0.17831	0.0428	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.15484	0.013;0.013	T	0.21861	-1.0233	8	0.72032	D	0.01	.	6.1018	0.20051	0.3658:0.4495:0.1847:0.0	.	777;825	P29590-13;P29590-8	.;.	S	825;777	.	ENSP00000268059:R825S	R	+	1	0	PML	72115328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.172000	0.09868	0.113000	0.18004	-0.518000	0.04402	CGT		0.622	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		7	424	7	424	---	---	---	---
EDC3	80153	broad.mit.edu	37	15	74948192	74948192	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:74948192C>A	ENST00000315127.4	-	4	883	c.702G>T	c.(700-702)cgG>cgT	p.R234R	EDC3_ENST00000426797.3_Silent_p.R234R|EDC3_ENST00000568176.1_Silent_p.R234R	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	234	Required for interaction with DDX6. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TTGGGATGCCCCGGGAACGGG	0.498																																						ENST00000315127.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						c.(700-702)cgG>cgT		enhancer of mRNA decapping 3							126.0	113.0	118.0					15																	74948192		2197	4296	6493	SO:0001819	synonymous_variant	80153				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	g.chr15:74948192C>A	BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.702G>T	15.37:g.74948192C>A						EDC3_ENST00000426797.3_Silent_p.R234R|EDC3_ENST00000568176.1_Silent_p.R234R	p.R234R	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN			4	883	-			234			Required for interaction with DDX6 (By similarity).		B3KPH0|D3DW61|Q9H797	Silent	SNP	ENST00000315127.4	37	c.702G>T	CCDS10267.1																																																																																				0.498	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286399.1	NM_025083		5	185	5	185	---	---	---	---
BTBD1	53339	broad.mit.edu	37	15	83698965	83698965	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:83698965C>A	ENST00000261721.4	-	5	1180	c.978G>T	c.(976-978)agG>agT	p.R326S	RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000560015.1_5'UTR|BTBD1_ENST00000379403.2_Missense_Mutation_p.R326S|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	326					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)		p.R326R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ATTCCTTTCCCCTGAGACAGC	0.453																																						ENST00000261721.4																			1	Substitution - coding silent(1)	p.R326R(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10						c.(976-978)agG>agT		BTB (POZ) domain containing 1							243.0	243.0	243.0					15																	83698965		2203	4300	6503	SO:0001583	missense	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83698965C>A	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.978G>T	15.37:g.83698965C>A	ENSP00000261721:p.Arg326Ser					RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000560015.1_5'UTR|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.R326S	p.R326S	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	5	1180	-			326					A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	c.978G>T	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.384726	0.25031	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.75821	-0.97;-0.89	5.15	-4.77	0.03219	.	0.000000	0.85682	D	0.000000	T	0.44746	0.1308	N	0.16478	0.41	0.45852	D	0.99871	B;B	0.18968	0.032;0.004	B;B	0.20184	0.028;0.016	T	0.19582	-1.0301	10	0.09590	T	0.72	-18.6308	4.3045	0.10940	0.0967:0.4152:0.2172:0.2709	.	326;326	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	S	326	ENSP00000261721:R326S;ENSP00000368713:R326S	ENSP00000261721:R326S	R	-	3	2	BTBD1	81489969	0.495000	0.26051	0.162000	0.22713	0.832000	0.47134	-0.250000	0.08830	-0.816000	0.04340	-0.340000	0.08031	AGG		0.453	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			9	613	9	613	---	---	---	---
TM6SF1	53346	broad.mit.edu	37	15	83781633	83781633	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:83781633C>A	ENST00000322019.9	+	2	451	c.177C>A	c.(175-177)ccC>ccA	p.P59P	TM6SF1_ENST00000565774.1_Silent_p.P59P|TM6SF1_ENST00000379390.6_Silent_p.P59P|TM6SF1_ENST00000564988.1_3'UTR|RP11-382A20.2_ENST00000565513.1_RNA|TM6SF1_ENST00000379386.4_Silent_p.P59P			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	59			P -> S (in dbSNP:rs1989).			integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GAAAACCACCCCGGGACCCAC	0.483																																						ENST00000322019.9																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(175-177)ccC>ccA		transmembrane 6 superfamily member 1							135.0	120.0	125.0					15																	83781633		2203	4300	6503	SO:0001819	synonymous_variant	53346					integral to membrane		g.chr15:83781633C>A	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.177C>A	15.37:g.83781633C>A						TM6SF1_ENST00000379390.6_Silent_p.P59P|TM6SF1_ENST00000379386.4_Silent_p.P59P|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Silent_p.P59P	p.P59P			Q9BZW5	TM6S1_HUMAN			2	451	+			59		P -> S (in dbSNP:rs1989).			A8K7T5|H3BU56|Q4U0U5	Silent	SNP	ENST00000322019.9	37	c.177C>A	CCDS10323.1																																																																																				0.483	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		7	174	7	174	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84373226	84373226	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:84373226G>T	ENST00000286744.5	+	3	379	c.155G>T	c.(154-156)gGg>gTg	p.G52V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G52V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	52						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACACAACAGGGGAGCAGTTC	0.468																																						ENST00000286744.5																			0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(154-156)gGg>gTg		ADAMTS-like 3							195.0	193.0	194.0					15																	84373226		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84373226G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.155G>T	15.37:g.84373226G>T	ENSP00000286744:p.Gly52Val					ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G52V	p.G52V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		3	379	+			52					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.155G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497317	0.85069	.	.	ENSG00000156218	ENST00000286744	T	0.64438	-0.1	5.45	5.45	0.79879	.	0.161092	0.42053	D	0.000767	T	0.78272	0.4257	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78690	-0.2106	10	0.56958	D	0.05	.	19.2865	0.94077	0.0:0.0:1.0:0.0	.	52;52	P82987-2;P82987	.;ATL3_HUMAN	V	52	ENSP00000286744:G52V	ENSP00000286744:G52V	G	+	2	0	ADAMTSL3	82164230	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	5.699000	0.68310	2.569000	0.86673	0.655000	0.94253	GGG		0.468	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		10	425	10	425	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86278321	86278321	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:86278321C>A	ENST00000394518.2	+	31	7476	c.7381C>A	c.(7381-7383)Ctg>Atg	p.L2461M	AKAP13_ENST00000394510.2_Missense_Mutation_p.L706M|AKAP13_ENST00000361243.2_Missense_Mutation_p.L2465M|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2461	Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCCCGTTTCCCTGCCCCGGAG	0.507																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(7381-7383)Ctg>Atg		A kinase (PRKA) anchor protein 13							185.0	184.0	184.0					15																	86278321		2202	4299	6501	SO:0001583	missense	11214				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|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86278321C>A	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.7381C>A	15.37:g.86278321C>A	ENSP00000378026:p.Leu2461Met					AKAP13_ENST00000361243.2_Missense_Mutation_p.L2465M|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.L706M	p.L2461M	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			31	7476	+			2461			Interaction with ESR1.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	c.7381C>A	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132476	0.56828	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.30714	1.52;1.52;1.52	5.77	-1.14	0.09741	.	.	.	.	.	T	0.54255	0.1847	M	0.80982	2.52	0.40265	D	0.97822	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.59558	-0.7432	9	0.72032	D	0.01	.	13.9442	0.64075	0.0:0.6627:0.0:0.3373	.	2461;2465	Q12802;Q12802-2	AKP13_HUMAN;.	M	2465;2461;2464;2440;706	ENSP00000354718:L2465M;ENSP00000378026:L2461M;ENSP00000378018:L706M	ENSP00000354718:L2465M	L	+	1	2	AKAP13	84079325	0.002000	0.14202	0.910000	0.35882	0.740000	0.42216	-0.124000	0.10595	-0.471000	0.06891	0.467000	0.42956	CTG		0.507	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		6	365	6	365	---	---	---	---
ABHD2	11057	broad.mit.edu	37	15	89719095	89719095	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:89719095C>A	ENST00000352732.5	+	6	1111	c.591C>A	c.(589-591)ccC>ccA	p.P197P	ABHD2_ENST00000565973.1_Silent_p.P197P|ABHD2_ENST00000355100.3_Silent_p.P197P	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	197					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGACATATCCCCTGACCCAGC	0.522																																					Colon(11;252 417 24570 33239 41878)	ENST00000352732.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23						c.(589-591)ccC>ccA		abhydrolase domain containing 2							172.0	139.0	150.0					15																	89719095		2200	4299	6499	SO:0001819	synonymous_variant	11057					integral to membrane	carboxylesterase activity	g.chr15:89719095C>A	X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.591C>A	15.37:g.89719095C>A						ABHD2_ENST00000565973.1_Silent_p.P197P|ABHD2_ENST00000355100.3_Silent_p.P197P	p.P197P	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN			6	1111	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		197					Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	ENST00000352732.5	37	c.591C>A	CCDS10348.1																																																																																				0.522	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309074.2			5	164	5	164	---	---	---	---
CRTC3	64784	broad.mit.edu	37	15	91169054	91169054	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:91169054G>T	ENST00000268184.6	+	10	800	c.796G>T	c.(796-798)Ggg>Tgg	p.G266W	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Missense_Mutation_p.G266W			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	266					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ACCCTTCTTGGGGACCTTGAA	0.488			T	MAML2	salivary gland mucoepidermoid																																	ENST00000420329.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(796-798)Ggg>Tgg		CREB regulated transcription coactivator 3							259.0	260.0	260.0					15																	91169054		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91169054G>T		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.796G>T	15.37:g.91169054G>T	ENSP00000268184:p.Gly266Trp					RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.G266W	p.G266W	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		10	943	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		266					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.796G>T	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615538	0.66672	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.47528	0.84;0.84	5.37	4.45	0.53987	Transducer of regulated CREB activity, middle domain (1);	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	T	0.64867	-0.6306	10	0.72032	D	0.01	-11.1201	12.1726	0.54167	0.0833:0.0:0.9167:0.0	.	266;266	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	W	230;266;266	ENSP00000268184:G266W;ENSP00000416573:G266W	ENSP00000268184:G266W	G	+	1	0	CRTC3	88970058	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	6.834000	0.75339	1.403000	0.46800	0.655000	0.94253	GGG		0.488	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		10	609	10	609	---	---	---	---
CRTC3	64784	broad.mit.edu	37	15	91172673	91172673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:91172673C>A	ENST00000268184.6	+	11	1179	c.1175C>A	c.(1174-1176)cCt>cAt	p.P392H	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Missense_Mutation_p.P392H			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	392					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CCCGTCAGCCCTCTCACGCTT	0.582			T	MAML2	salivary gland mucoepidermoid																																	ENST00000420329.2				Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						c.(1174-1176)cCt>cAt		CREB regulated transcription coactivator 3							150.0	153.0	152.0					15																	91172673		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91172673C>A		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1175C>A	15.37:g.91172673C>A	ENSP00000268184:p.Pro392His					RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000268184.6_Missense_Mutation_p.P392H	p.P392H	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		11	1322	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		392					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.1175C>A	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.111505	0.56398	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.55234	1.78;0.53	5.18	5.18	0.71444	.	0.053328	0.85682	D	0.000000	T	0.71031	0.3292	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.73550	-0.3947	10	0.87932	D	0	-20.9754	16.2411	0.82409	0.0:1.0:0.0:0.0	.	392;392	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	H	356;392;392	ENSP00000268184:P392H;ENSP00000416573:P392H	ENSP00000268184:P392H	P	+	2	0	CRTC3	88973677	1.000000	0.71417	0.991000	0.47740	0.007000	0.05969	5.611000	0.67674	2.687000	0.91594	0.655000	0.94253	CCT		0.582	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		6	330	6	330	---	---	---	---
ST8SIA2	8128	broad.mit.edu	37	15	92981724	92981724	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:92981724C>A	ENST00000268164.3	+	4	669	c.432C>A	c.(430-432)ccC>ccA	p.P144P	ST8SIA2_ENST00000539113.1_Silent_p.P123P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	144					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AGCTCCTCCCCAGGACTTCGC	0.537																																						ENST00000268164.3																			0				endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20						c.(430-432)ccC>ccA		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2							123.0	121.0	122.0					15																	92981724		2198	4298	6496	SO:0001819	synonymous_variant	8128				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr15:92981724C>A	U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.432C>A	15.37:g.92981724C>A						ST8SIA2_ENST00000539113.1_Silent_p.P123P	p.P144P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)		4	669	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		144					Q4VAZ0|Q92470|Q92746	Silent	SNP	ENST00000268164.3	37	c.432C>A	CCDS10372.1																																																																																				0.537	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011		5	248	5	248	---	---	---	---
SYNM	23336	broad.mit.edu	37	15	99672871	99672871	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:99672871C>A	ENST00000336292.6	+	5	4423	c.4303C>A	c.(4303-4305)Cct>Act	p.P1435T	SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1436	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AGCGGACTCCCCTGAGCTAGG	0.512																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(4303-4305)Cct>Act		synemin, intermediate filament protein							188.0	190.0	189.0					15																	99672871		2083	4206	6289	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99672871C>A	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000336292.6:c.4303C>A	15.37:g.99672871C>A	ENSP00000336775:p.Pro1435Thr					SYNM_ENST00000328642.7_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron	p.P1435T	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	4423	+			1436			Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000336292.6	37	c.4303C>A		.	.	.	.	.	.	.	.	.	.	C	10.36	1.328382	0.24080	.	.	ENSG00000182253	ENST00000336292	T	0.18338	2.22	5.52	-2.24	0.06909	.	.	.	.	.	T	0.09730	0.0239	.	.	.	0.28816	N	0.897947	P	0.45126	0.851	B	0.33339	0.162	T	0.22208	-1.0223	8	0.72032	D	0.01	.	6.8532	0.24026	0.0:0.3053:0.1299:0.5648	.	1436	O15061	SYNEM_HUMAN	T	1435	ENSP00000336775:P1435T	ENSP00000336775:P1435T	P	+	1	0	SYNM	97490394	0.000000	0.05858	0.066000	0.19879	0.047000	0.14425	0.061000	0.14366	-0.199000	0.10317	-0.140000	0.14226	CCT		0.512	SYNM-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_145728		7	371	7	371	---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100594132	100594132	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:100594132C>A	ENST00000268070.4	-	16	2370	c.2265G>T	c.(2263-2265)aaG>aaT	p.K755N		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	755	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGGTTGGTCCCTTGGCAGAGA	0.532																																						ENST00000268070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2263-2265)aaG>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 17							294.0	280.0	285.0					15																	100594132		2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100594132C>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2265G>T	15.37:g.100594132C>A	ENSP00000268070:p.Lys755Asn						p.K755N	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	16	2370	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		755			Spacer.		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.2265G>T	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.017758	0.54576	.	.	ENSG00000140470	ENST00000268070	T	0.52526	0.66	5.9	3.97	0.46021	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.60170	0.2248	M	0.73962	2.25	0.58432	D	0.999997	D	0.63880	0.993	D	0.63113	0.911	T	0.57394	-0.7819	10	0.21540	T	0.41	.	8.6348	0.33941	0.0:0.7001:0.0:0.2999	.	755	Q8TE56	ATS17_HUMAN	N	755	ENSP00000268070:K755N	ENSP00000268070:K755N	K	-	3	2	ADAMTS17	98411655	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.080000	0.41586	0.772000	0.33382	0.655000	0.94253	AAG		0.532	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		8	487	8	487	---	---	---	---
MSLN	10232	broad.mit.edu	37	16	812728	812728	+	Silent	SNP	C	C	A	rs138683708		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:812728C>A	ENST00000382862.3	+	2	143	c.48C>A	c.(46-48)ccC>ccA	p.P16P	MSLN_ENST00000545450.2_Silent_p.P16P|MSLN_ENST00000566549.1_Silent_p.P16P|MSLN_ENST00000563941.1_Silent_p.P16P	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	16				TPAL -> DRP (in Ref. 2; AAC50348). {ECO:0000305}.	cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTGGGACCCCCGCCCTCGGCA	0.692																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.(46-48)ccC>ccA		mesothelin							86.0	91.0	89.0					16																	812728		2200	4297	6497	SO:0001819	synonymous_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:812728C>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.48C>A	16.37:g.812728C>A						MSLN_ENST00000382862.3_Silent_p.P16P|MSLN_ENST00000545450.2_Silent_p.P16P|MSLN_ENST00000563941.1_Silent_p.P16P	p.P16P			Q13421	MSLN_HUMAN			2	465	+		Hepatocellular(780;0.00335)	16	TPAL -> DRP (in Ref. 2; AAC50348).				D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Silent	SNP	ENST00000382862.3	37	c.48C>A	CCDS32356.1																																																																																				0.692	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			5	290	5	290	---	---	---	---
EME2	197342	broad.mit.edu	37	16	1825078	1825078	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:1825078C>A	ENST00000568449.1	+	4	535	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	MRPS34_ENST00000397375.2_5'Flank|MRPS34_ENST00000177742.3_5'Flank|EME2_ENST00000307394.7_Missense_Mutation_p.P172T	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	172					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CTGGATCTCCCCCGAGACCAC	0.657								Direct reversal of damage;Homologous recombination																														ENST00000307394.7																			0				central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						c.(514-516)Ccc>Acc	Direct reversal of damage;Homologous recombination	essential meiotic structure-specific endonuclease subunit 2							84.0	95.0	92.0					16																	1825078		2199	4299	6498	SO:0001583	missense	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1825078C>A	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.514C>A	16.37:g.1825078C>A	ENSP00000457353:p.Pro172Thr					EME2_ENST00000568449.1_Missense_Mutation_p.P172T	p.P172T			A4GXA9	EME2_HUMAN			4	514	+			172					Q8TEP2|Q96RY3	Missense_Mutation	SNP	ENST00000568449.1	37	c.514C>A	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007053	0.54361	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	4.93	3.96	0.45880	ERCC4 domain (2);	0.690381	0.12936	N	0.427017	T	0.51719	0.1691	.	.	.	0.09310	N	1	D	0.64830	0.994	D	0.63793	0.918	T	0.39251	-0.9623	8	0.15066	T	0.55	-10.4357	12.1277	0.53926	0.0:0.8266:0.1734:0.0	.	172	A4GXA9	EME2_HUMAN	T	172	.	ENSP00000303779:P172T	P	+	1	0	EME2	1765079	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	0.069000	0.14552	1.041000	0.40125	0.561000	0.74099	CCC		0.657	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		6	290	6	290	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2819215	2819215	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:2819215C>A	ENST00000301740.8	+	12	8500	c.7951C>A	c.(7951-7953)Cct>Act	p.P2651T	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2651	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ctccccttccCCTGCTAAGCC	0.587																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7951-7953)Cct>Act		serine/arginine repetitive matrix 2							100.0	105.0	103.0					16																	2819215		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2819215C>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7951C>A	16.37:g.2819215C>A	ENSP00000301740:p.Pro2651Thr					SRRM2_ENST00000574593.1_3'UTR	p.P2651T	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			12	8500	+			2651			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.7951C>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041315	0.35989	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.42900	0.96	5.34	5.34	0.76211	.	0.225938	0.31145	N	0.008165	T	0.50871	0.1641	L	0.32530	0.975	0.33410	D	0.578555	D	0.89917	1.0	D	0.79108	0.992	T	0.54596	-0.8270	10	0.20519	T	0.43	-16.7033	14.5184	0.67835	0.0:1.0:0.0:0.0	.	2651	Q9UQ35	SRRM2_HUMAN	T	2651;2233;1903	ENSP00000301740:P2651T	ENSP00000301740:P2651T	P	+	1	0	SRRM2	2759216	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.638000	0.37165	2.497000	0.84241	0.561000	0.74099	CCT		0.587	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			6	304	6	304	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2819272	2819272	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:2819272C>A	ENST00000301740.8	+	12	8557	c.8008C>A	c.(8008-8010)Cct>Act	p.P2670T	AC092117.2_ENST00000581119.1_RNA|SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2670	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAGCCACCCCCTGGCGAGCG	0.637																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(8008-8010)Cct>Act		serine/arginine repetitive matrix 2																																				SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2819272C>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.8008C>A	16.37:g.2819272C>A	ENSP00000301740:p.Pro2670Thr					SRRM2_ENST00000574593.1_3'UTR	p.P2670T	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			12	8557	+			2670			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.8008C>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	9.219	1.032994	0.19590	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.42900	0.96	5.19	5.19	0.71726	.	0.215289	0.33057	N	0.005337	T	0.46502	0.1396	N	0.19112	0.55	0.33165	D	0.547451	D	0.89917	1.0	D	0.79108	0.992	T	0.50092	-0.8868	10	0.18710	T	0.47	-23.3137	14.1959	0.65670	0.0:1.0:0.0:0.0	.	2670	Q9UQ35	SRRM2_HUMAN	T	2670;2252;1922	ENSP00000301740:P2670T	ENSP00000301740:P2670T	P	+	1	0	SRRM2	2759273	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.691000	0.37721	2.416000	0.81992	0.561000	0.74099	CCT		0.637	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			6	309	6	309	---	---	---	---
OR1F1	4992	broad.mit.edu	37	16	3254942	3254942	+	Missense_Mutation	SNP	G	G	T	rs267604534		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:3254942G>T	ENST00000304646.2	+	1	696	c.696G>T	c.(694-696)aaG>aaT	p.K232N	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	232					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CATCCACAAAGGGAAGGTGGA	0.512																																						ENST00000304646.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						c.(694-696)aaG>aaT		olfactory receptor, family 1, subfamily F, member 1							196.0	172.0	180.0					16																	3254942		2197	4300	6497	SO:0001583	missense	4992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254942G>T	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.696G>T	16.37:g.3254942G>T	ENSP00000305424:p.Lys232Asn					AJ003147.9_ENST00000576468.1_RNA	p.K232N	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN			1	696	+			232					O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	c.696G>T	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	G	8.415	0.845088	0.16963	.	.	ENSG00000168124	ENST00000304646	T	0.00145	8.67	5.06	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.898765	0.09495	N	0.794393	T	0.00210	0.0006	L	0.45285	1.41	0.21878	N	0.999497	P	0.38863	0.65	B	0.43155	0.41	T	0.46569	-0.9182	10	0.51188	T	0.08	.	9.6799	0.40063	0.1781:0.0:0.8219:0.0	.	232	O43749	OR1F1_HUMAN	N	232	ENSP00000305424:K232N	ENSP00000305424:K232N	K	+	3	2	OR1F1	3194943	0.665000	0.27466	0.334000	0.25495	0.308000	0.27856	0.581000	0.23819	1.118000	0.41863	0.393000	0.25936	AAG		0.512	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			8	306	8	306	---	---	---	---
MGRN1	23295	broad.mit.edu	37	16	4714730	4714730	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:4714730G>T	ENST00000399577.5	+	6	675	c.582G>T	c.(580-582)cgG>cgT	p.R194R	MGRN1_ENST00000588994.1_Silent_p.R194R|MGRN1_ENST00000415496.1_Silent_p.R194R|MGRN1_ENST00000586183.1_Silent_p.R194R|MGRN1_ENST00000262370.7_Silent_p.R194R	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	194					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						ACCTGGACCGGGGCGTGTTTC	0.597																																						ENST00000399577.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(580-582)cgG>cgT		mahogunin ring finger 1, E3 ubiquitin protein ligase							125.0	128.0	127.0					16																	4714730		2154	4247	6401	SO:0001819	synonymous_variant	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4714730G>T	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.582G>T	16.37:g.4714730G>T						MGRN1_ENST00000262370.7_Silent_p.R194R|MGRN1_ENST00000586183.1_Silent_p.R194R|MGRN1_ENST00000415496.1_Silent_p.R194R|MGRN1_ENST00000588994.1_Silent_p.R194R	p.R194R	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN			6	675	+			194					A4URL3|A4URL4|Q86W76	Silent	SNP	ENST00000399577.5	37	c.582G>T	CCDS45402.1																																																																																				0.597	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			5	164	5	164	---	---	---	---
MKL2	57496	broad.mit.edu	37	16	14234515	14234515	+	Missense_Mutation	SNP	C	C	A	rs139420323		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:14234515C>A	ENST00000574045.1	+	3	207	c.52C>A	c.(52-54)Cat>Aat	p.H18N	MKL2_ENST00000318282.5_Missense_Mutation_p.H18N|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000571589.1_Missense_Mutation_p.H18N			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	0					blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCTTTAGCCCATCTTGCTCC	0.507																																						ENST00000571589.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(52-54)Cat>Aat		MKL/myocardin-like 2							158.0	128.0	138.0					16																	14234515		2197	4300	6497	SO:0001583	missense	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14234515C>A	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000574045.1:c.52C>A	16.37:g.14234515C>A	ENSP00000459205:p.His18Asn					MKL2_ENST00000318282.5_Missense_Mutation_p.H18N|MKL2_ENST00000575537.1_3'UTR|MKL2_ENST00000574045.1_Missense_Mutation_p.H18N	p.H18N	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN			3	224	+			0					A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Missense_Mutation	SNP	ENST00000574045.1	37	c.52C>A	CCDS32391.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334617	0.41297	.	.	ENSG00000186260	ENST00000318282	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	T	0.33206	0.0855	N	0.19112	0.55	0.80722	D	1	B;P	0.36535	0.421;0.557	B;B	0.30495	0.054;0.116	T	0.15037	-1.0451	8	0.21014	T	0.42	.	12.3267	0.55015	0.169:0.831:0.0:0.0	.	18;18	B4DGT8;Q9ULH7-4	.;.	N	18	.	ENSP00000339086:H18N	H	+	1	0	MKL2	14142016	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	1.801000	0.38843	2.400000	0.81607	0.650000	0.86243	CAT		0.507	MKL2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436622.1	NM_014048		5	179	5	179	---	---	---	---
MIR193BHG	100129781	broad.mit.edu	37	16	14397848	14397848	+	lincRNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:14397848G>T	ENST00000570945.1	+	0	310				MIR193B_ENST00000384907.1_RNA																							GGGGTTTTGAGGGCGAGATGA	0.577																																						ENST00000570945.1																			0																				168.0	168.0	168.0					16																	14397848		1568	3582	5150			100129781							g.chr16:14397848G>T																													16.37:g.14397848G>T						MIR193B_ENST00000384907.1_RNA								0	310	+									RNA	SNP	ENST00000570945.1	37																																																																																						0.577	RP11-65J21.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436878.1			7	333	7	333	---	---	---	---
KIAA0430	9665	broad.mit.edu	37	16	15719561	15719561	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:15719561C>A	ENST00000396368.3	-	8	1827	c.1621G>T	c.(1621-1623)Ggg>Tgg	p.G541W	KIAA0430_ENST00000602337.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G363W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G540W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	541					double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGCACTTTCCCACCACAATTA	0.483																																						ENST00000396368.3																			0				breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						c.(1621-1623)Ggg>Tgg		KIAA0430							111.0	107.0	108.0					16																	15719561		1941	4145	6086	SO:0001583	missense	9665					peroxisome	nucleotide binding|RNA binding	g.chr16:15719561C>A	AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1621G>T	16.37:g.15719561C>A	ENSP00000379654:p.Gly541Trp					KIAA0430_ENST00000551742.1_Missense_Mutation_p.G540W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000540441.2_Intron|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G538W|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G363W	p.G541W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN			8	1827	-			540					A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	c.1621G>T	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739236	0.89573	.	.	ENSG00000166783	ENST00000396368;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	M	0.75264	2.295	0.46631	D	0.999139	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84095	0.0392	9	0.87932	D	0	.	19.6506	0.95805	0.0:1.0:0.0:0.0	.	539;538;537	Q9Y4F3-5;F8VV09;Q9Y4F3-4	.;.;.	W	541;540;363;538;540;541	.	ENSP00000315718:G540W	G	-	1	0	KIAA0430	15627062	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.076000	0.76806	2.640000	0.89533	0.591000	0.81541	GGG		0.483	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2	NM_014647		7	242	7	242	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18844357	18844357	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:18844357G>T	ENST00000446231.2	-	51	9109	c.8697C>A	c.(8695-8697)ccC>ccA	p.P2899P	SMG1_ENST00000389467.3_Silent_p.P2899P			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2899			P -> A. {ECO:0000269|PubMed:17344846}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GAGTCTGCAGGGGAACGCCAT	0.468																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(8695-8697)ccC>ccA		SMG1 phosphatidylinositol 3-kinase-related kinase							236.0	227.0	230.0					16																	18844357		1944	4142	6086	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18844357G>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8697C>A	16.37:g.18844357G>T						SMG1_ENST00000389467.3_Silent_p.P2899P	p.P2899P			Q96Q15	SMG1_HUMAN			51	9109	-			2899		P -> A.			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.8697C>A	CCDS45430.1																																																																																				0.468	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		10	501	10	501	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20448426	20448426	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:20448426G>T	ENST00000331849.4	+	11	1508	c.1361G>T	c.(1360-1362)gGg>gTg	p.G454V		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	454					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TACATCACAGGGGACCGAGCT	0.488																																						ENST00000331849.4																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1360-1362)gGg>gTg		acyl-CoA synthetase medium-chain family member 5							162.0	151.0	155.0					16																	20448426		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20448426G>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1361G>T	16.37:g.20448426G>T	ENSP00000327916:p.Gly454Val						p.G454V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN			11	1508	+			454					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1361G>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352006	0.82132	.	.	ENSG00000183549	ENST00000331849	D	0.83591	-1.74	5.15	5.15	0.70609	AMP-dependent synthetase/ligase (1);	0.098188	0.44902	D	0.000405	D	0.94571	0.8251	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96377	0.9278	10	0.87932	D	0	-27.4661	17.755	0.88446	0.0:0.0:1.0:0.0	.	454	Q6NUN0	ACSM5_HUMAN	V	454	ENSP00000327916:G454V	ENSP00000327916:G454V	G	+	2	0	ACSM5	20355927	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	8.028000	0.88798	2.563000	0.86464	0.650000	0.86243	GGG		0.488	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		8	327	8	327	---	---	---	---
ACSM3	6296	broad.mit.edu	37	16	20803376	20803376	+	Missense_Mutation	SNP	G	G	T	rs140665877	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:20803376G>T	ENST00000289416.5	+	11	1854	c.1379G>T	c.(1378-1380)gGg>gTg	p.G460V	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.G452V|ACSM3_ENST00000567387.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	460					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.G460V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TATATCACTGGGGACAGAGGA	0.373																																						ENST00000289416.5																			1	Substitution - Missense(1)	p.G460V(1)	lung(1)	breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						c.(1378-1380)gGg>gTg		acyl-CoA synthetase medium-chain family member 3							161.0	159.0	160.0					16																	20803376		2201	4300	6501	SO:0001583	missense	6296				regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20803376G>T	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1379G>T	16.37:g.20803376G>T	ENSP00000289416:p.Gly460Val					ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.G452V	p.G460V	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN			11	1854	+			460					O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	c.1379G>T	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420207	0.83559	.	.	ENSG00000005187	ENST00000289416;ENST00000450120	D;D	0.83591	-1.74;-1.74	5.59	5.59	0.84812	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.95046	0.8396	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96596	0.9441	10	0.87932	D	0	-0.0688	19.6055	0.95580	0.0:0.0:1.0:0.0	.	452;460	E7ETR5;Q53FZ2	.;ACSM3_HUMAN	V	460;452	ENSP00000289416:G460V;ENSP00000395297:G452V	ENSP00000289416:G460V	G	+	2	0	ACSM3	20710877	1.000000	0.71417	0.996000	0.52242	0.940000	0.58332	8.099000	0.89542	2.631000	0.89168	0.650000	0.86243	GGG		0.373	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622		7	378	7	378	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21147786	21147786	+	Missense_Mutation	SNP	G	G	T	rs140282790		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:21147786G>T	ENST00000261383.3	-	6	744	c.745C>A	c.(745-747)Cct>Act	p.P249T	DNAH3_ENST00000415178.1_Missense_Mutation_p.P249T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	249	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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCTCCTCAGGGGCAATCATG	0.478																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(745-747)Cct>Act		dynein, axonemal, heavy chain 3							188.0	175.0	179.0					16																	21147786		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21147786G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.745C>A	16.37:g.21147786G>T	ENSP00000261383:p.Pro249Thr					DNAH3_ENST00000415178.1_Missense_Mutation_p.P249T	p.P249T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	6	744	-			249			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.745C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	9.388	1.074866	0.20227	.	.	ENSG00000158486	ENST00000261383;ENST00000415178;ENST00000396036	T;T	0.26373	1.74;1.88	5.77	2.71	0.32032	.	0.308702	0.29822	N	0.011120	T	0.33469	0.0864	M	0.68317	2.08	0.30048	N	0.812029	D;D	0.58268	0.961;0.982	P;P	0.51516	0.522;0.672	T	0.24799	-1.0150	10	0.41790	T	0.15	.	8.1127	0.30924	0.1458:0.1314:0.7228:0.0	.	249;220	Q8TD57;Q8TD57-2	DYH3_HUMAN;.	T	249;249;220	ENSP00000261383:P249T;ENSP00000394245:P249T	ENSP00000261383:P249T	P	-	1	0	DNAH3	21055287	1.000000	0.71417	0.226000	0.23910	0.327000	0.28475	2.081000	0.41596	0.341000	0.23771	-0.150000	0.13652	CCT		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	351	7	351	---	---	---	---
PDZD9	255762	broad.mit.edu	37	16	21995621	21995621	+	Missense_Mutation	SNP	C	C	A	rs545750834		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:21995621C>A	ENST00000424898.2	-	4	824	c.762G>T	c.(760-762)gaG>gaT	p.E254D	PDZD9_ENST00000286143.6_Missense_Mutation_p.E192D|PDZD9_ENST00000537222.2_Missense_Mutation_p.E194D			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	254										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GGGCTTTACCCTCTTCAACTT	0.453																																						ENST00000286143.6																			0				breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						c.(574-576)gaG>gaT		PDZ domain containing 9							293.0	300.0	298.0					16																	21995621		2198	4300	6498	SO:0001583	missense	255762							g.chr16:21995621C>A	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.762G>T	16.37:g.21995621C>A	ENSP00000400514:p.Glu254Asp					PDZD9_ENST00000424898.2_Missense_Mutation_p.E254D|PDZD9_ENST00000537222.2_Missense_Mutation_p.E194D	p.E192D			Q8IXQ8	PDZD9_HUMAN			5	897	-			254					F5GWW8	Missense_Mutation	SNP	ENST00000424898.2	37	c.576G>T		.	.	.	.	.	.	.	.	.	.	C	12.28	1.891874	0.33442	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143	T	0.47528	0.84	5.67	4.7	0.59300	.	0.598876	0.16006	N	0.234058	T	0.38931	0.1059	L	0.34521	1.04	0.25222	N	0.98989	B	0.18310	0.027	B	0.21917	0.037	T	0.32903	-0.9889	10	0.51188	T	0.08	-1.1026	11.7176	0.51663	0.1766:0.8234:0.0:0.0	.	192	Q8IXQ8-2	.	D	254;194;192	ENSP00000400514:E254D	ENSP00000286143:E192D	E	-	3	2	PDZD9	21903122	0.133000	0.22466	0.474000	0.27266	0.448000	0.32197	1.476000	0.35420	1.336000	0.45506	0.563000	0.77884	GAG		0.453	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		14	1392	14	1392	---	---	---	---
GGA2	23062	broad.mit.edu	37	16	23498080	23498080	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:23498080G>T	ENST00000309859.4	-	7	693	c.611C>A	c.(610-612)cCc>cAc	p.P204H	GGA2_ENST00000567468.1_Missense_Mutation_p.P204H	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	204	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.P204H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		AAGGTCCTCGGGGTGGTTGCT	0.507																																						ENST00000309859.4																			1	Substitution - Missense(1)	p.P204H(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21						c.(610-612)cCc>cAc		golgi-associated, gamma adaptin ear containing, ARF binding protein 2							231.0	222.0	225.0					16																	23498080		2197	4300	6497	SO:0001583	missense	23062				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr16:23498080G>T	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.611C>A	16.37:g.23498080G>T	ENSP00000311962:p.Pro204His					GGA2_ENST00000567468.1_Missense_Mutation_p.P204H	p.P204H	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN		GBM - Glioblastoma multiforme(48;0.0386)	7	693	-			204			GAT.		D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	37	c.611C>A	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	32	5.136833	0.94517	.	.	ENSG00000103365	ENST00000309859	T	0.74315	-0.83	6.07	6.07	0.98685	GAT (1);	0.115043	0.64402	D	0.000011	D	0.87629	0.6225	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.88160	0.2857	10	0.72032	D	0.01	-17.5255	18.1377	0.89624	0.0:0.0:1.0:0.0	.	204	Q9UJY4	GGA2_HUMAN	H	204	ENSP00000311962:P204H	ENSP00000311962:P204H	P	-	2	0	GGA2	23405581	1.000000	0.71417	0.986000	0.45419	0.982000	0.71751	9.307000	0.96226	2.890000	0.99128	0.650000	0.86243	CCC		0.507	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1			8	544	8	544	---	---	---	---
PRKCB	5579	broad.mit.edu	37	16	24104145	24104145	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:24104145C>A	ENST00000321728.7	+	6	738	c.563C>A	c.(562-564)cCc>cAc	p.P188H	PRKCB_ENST00000303531.7_Missense_Mutation_p.P188H|PRKCB_ENST00000482000.1_3'UTR	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	188	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CCTATGGACCCCAATGGCCTG	0.423																																						ENST00000303531.7																			0				central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9						c.(562-564)cCc>cAc		protein kinase C, beta	Vitamin E(DB00163)						164.0	144.0	151.0					16																	24104145		2197	4300	6497	SO:0001583	missense	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24104145C>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.563C>A	16.37:g.24104145C>A	ENSP00000318315:p.Pro188His					PRKCB_ENST00000321728.7_Missense_Mutation_p.P188H|PRKCB_ENST00000482000.1_3'UTR	p.P188H	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN			6	715	+			188			C2.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	c.563C>A	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833060	0.91036	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.69926	-0.44;-0.44	5.18	5.18	0.71444	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.80412	0.4618	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.985;0.991	T	0.82159	-0.0595	10	0.87932	D	0	.	18.0382	0.89311	0.0:1.0:0.0:0.0	.	188;188	P05771-2;P05771	.;KPCB_HUMAN	H	188	ENSP00000318315:P188H;ENSP00000305355:P188H	ENSP00000305355:P188H	P	+	2	0	PRKCB	24011646	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.374000	0.79633	2.577000	0.86979	0.555000	0.69702	CCC		0.423	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		6	350	6	350	---	---	---	---
ZKSCAN2	342357	broad.mit.edu	37	16	25258052	25258052	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:25258052G>T	ENST00000328086.7	-	5	2268	c.1465C>A	c.(1465-1467)Cct>Act	p.P489T		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	489					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AACAAGACAGGGGCACCATGG	0.443																																						ENST00000328086.7																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36						c.(1465-1467)Cct>Act		zinc finger with KRAB and SCAN domains 2							126.0	123.0	124.0					16																	25258052		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25258052G>T	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1465C>A	16.37:g.25258052G>T	ENSP00000331626:p.Pro489Thr						p.P489T	NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	5	2268	-			489					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1465C>A	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991242	0.74703	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.08102	3.13	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000004	T	0.27731	0.0682	M	0.68952	2.095	0.41829	D	0.990065	D;P;D	0.89917	1.0;0.865;1.0	D;P;D	0.83275	0.996;0.521;0.996	T	0.00145	-1.1993	10	0.59425	D	0.04	-17.8063	15.4129	0.74941	0.0:0.0:1.0:0.0	.	285;489;489	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	T	489	ENSP00000331626:P489T	ENSP00000331626:P489T	P	-	1	0	ZKSCAN2	25165553	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.333000	0.52090	2.780000	0.95670	0.655000	0.94253	CCT		0.443	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		7	396	7	396	---	---	---	---
CCDC101	112869	broad.mit.edu	37	16	28602973	28602973	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:28602973C>A	ENST00000317058.3	+	10	1015	c.828C>A	c.(826-828)ccC>ccA	p.P276P		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	276	SGF29 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00851}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						ATTCCCCTCCCCTCAATGTGG	0.582																																						ENST00000317058.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(826-828)ccC>ccA		coiled-coil domain containing 101							140.0	124.0	130.0					16																	28602973		2197	4300	6497	SO:0001819	synonymous_variant	112869				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding	g.chr16:28602973C>A	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.828C>A	16.37:g.28602973C>A							p.P276P	NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN			10	1015	+			276			SGF29 C-terminal.		Q96MF5	Silent	SNP	ENST00000317058.3	37	c.828C>A	CCDS10635.1																																																																																				0.582	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		7	210	7	210	---	---	---	---
EIF3C	8663	broad.mit.edu	37	16	28734623	28734623	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:28734623G>T	ENST00000331666.6	+	9	1101	c.915G>T	c.(913-915)cgG>cgT	p.R305R	EIF3C_ENST00000566501.1_Silent_p.R305R|EIF3C_ENST00000395587.1_Silent_p.R305R|EIF3C_ENST00000566866.1_Silent_p.R305R|EIF3C_ENST00000564243.1_Silent_p.R295R					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						AAAGGGTCCGGGGCGGAGTGC	0.537																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(913-915)cgG>cgT		eukaryotic translation initiation factor 3, subunit C							276.0	319.0	304.0					16																	28734623		2197	4298	6495	SO:0001819	synonymous_variant	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734623G>T	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.915G>T	16.37:g.28734623G>T						EIF3C_ENST00000566866.1_Silent_p.R305R|EIF3C_ENST00000564243.1_Silent_p.R295R|EIF3C_ENST00000395587.1_Silent_p.R305R|EIF3C_ENST00000566501.1_Silent_p.R305R	p.R305R			Q99613	EIF3C_HUMAN			9	1101	+			305						Silent	SNP	ENST00000331666.6	37	c.915G>T	CCDS10638.1																																																																																				0.537	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		14	1271	14	1271	---	---	---	---
NFATC2IP	84901	broad.mit.edu	37	16	28965930	28965930	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:28965930C>A	ENST00000320805.4	+	3	580	c.505C>A	c.(505-507)Cca>Aca	p.P169T	NFATC2IP_ENST00000562977.1_Intron|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000564978.1_Intron|RP11-264B17.2_ENST00000568057.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	169					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						TGAGGGCTCCCCATCACCAGG	0.562																																						ENST00000320805.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						c.(505-507)Cca>Aca		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein							106.0	106.0	106.0					16																	28965930		2197	4300	6497	SO:0001583	missense	84901					cytoplasm|nucleus		g.chr16:28965930C>A	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.505C>A	16.37:g.28965930C>A	ENSP00000324792:p.Pro169Thr					NFATC2IP_ENST00000564978.1_Intron|NFATC2IP_ENST00000562977.1_Intron	p.P169T	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN			3	580	+			169					B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	c.505C>A	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	C	6.559	0.471424	0.12461	.	.	ENSG00000176953	ENST00000320805	T	0.17691	2.26	4.35	0.24	0.15489	.	1.559630	0.03874	N	0.276120	T	0.16896	0.0406	L	0.51422	1.61	0.09310	N	1	B	0.30068	0.267	B	0.25140	0.058	T	0.32161	-0.9917	10	0.59425	D	0.04	0.6123	6.191	0.20524	0.0:0.5656:0.0:0.4344	.	169	Q8NCF5	NF2IP_HUMAN	T	169	ENSP00000324792:P169T	ENSP00000324792:P169T	P	+	1	0	NFATC2IP	28873431	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.282000	0.08445	0.214000	0.20742	0.561000	0.74099	CCA		0.562	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		6	367	6	367	---	---	---	---
CORO1A	11151	broad.mit.edu	37	16	30197992	30197992	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30197992C>A	ENST00000219150.5	+	3	577	c.272C>A	c.(271-273)cCg>cAg	p.P91Q	CORO1A_ENST00000565497.1_Missense_Mutation_p.P91Q|RP11-455F5.5_ENST00000568506.1_RNA|CORO1A_ENST00000570045.1_Missense_Mutation_p.P91Q|RP11-455F5.5_ENST00000567153.1_RNA|RP11-455F5.5_ENST00000566144.1_RNA	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	91					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|calcium ion transport (GO:0006816)|cell-substrate adhesion (GO:0031589)|cellular component movement (GO:0006928)|cellular response to interleukin-4 (GO:0071353)|homeostasis of number of cells within a tissue (GO:0048873)|innate immune response (GO:0045087)|leukocyte chemotaxis (GO:0030595)|negative regulation of actin nucleation (GO:0051126)|phagocytosis (GO:0006909)|phagolysosome assembly (GO:0001845)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of T cell proliferation (GO:0042102)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|T cell homeostasis (GO:0043029)|uropod organization (GO:0032796)	actin filament (GO:0005884)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|phosphatidylinositol 3-kinase binding (GO:0043548)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						GCCTGGTGCCCGCACAATGAC	0.617																																						ENST00000219150.5																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						c.(271-273)cCg>cAg		coronin, actin binding protein, 1A							62.0	46.0	52.0					16																	30197992		2197	4300	6497	SO:0001583	missense	11151				cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity	g.chr16:30197992C>A	X89109	CCDS10673.1	16p11.2	2014-09-17	2001-11-28		ENSG00000102879	ENSG00000102879		"""Coronins"", ""WD repeat domain containing"""	2252	protein-coding gene	gene with protein product	"""Clabp TACO"""	605000	"""coronin, actin-binding protein, 1A"""			9778037	Standard	NM_007074		Approved	HCORO1, p57, coronin-1	uc002dww.3	P31146	OTTHUMG00000132148	ENST00000219150.5:c.272C>A	16.37:g.30197992C>A	ENSP00000219150:p.Pro91Gln					CORO1A_ENST00000565497.1_Missense_Mutation_p.P91Q|CORO1A_ENST00000570045.1_Missense_Mutation_p.P91Q	p.P91Q	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN			3	577	+			91					B2RBL1|Q2YD73	Missense_Mutation	SNP	ENST00000219150.5	37	c.272C>A	CCDS10673.1	.	.	.	.	.	.	.	.	.	.	.	28.3	4.908142	0.92107	.	.	ENSG00000102879	ENST00000219150	T	0.69926	-0.44	5.55	5.55	0.83447	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.117152	0.64402	D	0.000017	D	0.82797	0.5115	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.995;0.956	D	0.84579	0.0660	10	0.87932	D	0	-10.8743	18.2757	0.90083	0.0:1.0:0.0:0.0	.	91;125;91	B4DJS1;Q59G88;P31146	.;.;COR1A_HUMAN	Q	91	ENSP00000219150:P91Q	ENSP00000219150:P91Q	P	+	2	0	CORO1A	30105493	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.725000	0.84808	2.632000	0.89209	0.655000	0.94253	CCG		0.617	CORO1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255195.2	NM_007074		3	39	3	39	---	---	---	---
ZNF688	146542	broad.mit.edu	37	16	30581354	30581354	+	Silent	SNP	C	C	A	rs370332443		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30581354C>A	ENST00000223459.6	-	3	1818	c.714G>T	c.(712-714)ggG>ggT	p.G238G	AC002310.7_ENST00000492040.1_RNA|ZNF688_ENST00000395219.1_Silent_p.G224G|AC002310.7_ENST00000486926.1_RNA	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	238					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)|large_intestine(2)|lung(2)|ovary(1)	8						CCCGCCGCCCCCCGGAGCAGG	0.706																																						ENST00000223459.6																			0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						c.(712-714)ggG>ggT		zinc finger protein 688							10.0	13.0	12.0					16																	30581354		2161	4248	6409	SO:0001819	synonymous_variant	146542				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30581354C>A	AK122680	CCDS10684.1	16p11.2	2013-01-08			ENSG00000229809	ENSG00000229809		"""Zinc fingers, C2H2-type"", ""-"""	30489	protein-coding gene	gene with protein product						10493829	Standard	XM_005255139		Approved		uc002dys.2	P0C7X2	OTTHUMG00000132408	ENST00000223459.6:c.714G>T	16.37:g.30581354C>A						ZNF688_ENST00000395219.1_Silent_p.G224G	p.G238G	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN			3	1818	-			238					A8MV39|B3KV51|O75701|Q8IW91|Q8WV14|Q96MN0	Silent	SNP	ENST00000223459.6	37	c.714G>T	CCDS10684.1																																																																																				0.706	ZNF688-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255544.2	NM_145271		4	32	4	32	---	---	---	---
ZNF629	23361	broad.mit.edu	37	16	30793264	30793264	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:30793264G>T	ENST00000262525.4	-	3	2592	c.2385C>A	c.(2383-2385)ccC>ccA	p.P795P	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	795					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CGGGATTGGGGGGTTTTTCCT	0.662																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2383-2385)ccC>ccA		zinc finger protein 629							81.0	96.0	91.0					16																	30793264		1908	4112	6020	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793264G>T	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2385C>A	16.37:g.30793264G>T							p.P795P	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2592	-			795					Q15938	Silent	SNP	ENST00000262525.4	37	c.2385C>A	CCDS45463.1																																																																																				0.662	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		9	296	9	296	---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072440	31072440	+	Silent	SNP	G	G	T	rs565573735	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:31072440G>T	ENST00000538906.1	-	3	2593	c.1809C>A	c.(1807-1809)ccC>ccA	p.P603P	ZNF668_ENST00000539836.3_Silent_p.P626P|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000300849.4_Silent_p.P603P|ZNF668_ENST00000394983.2_Silent_p.P603P|ZNF668_ENST00000535577.1_Silent_p.P603P|ZNF668_ENST00000426488.2_Silent_p.P626P	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	603					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GGGGCTCCAGGGGTGTGGGGG	0.672																																					Colon(181;1111 1980 5060 10512 25785)	ENST00000538906.1																			0				breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1807-1809)ccC>ccA		zinc finger protein 668							35.0	43.0	40.0					16																	31072440		2192	4296	6488	SO:0001819	synonymous_variant	79759				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31072440G>T		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1809C>A	16.37:g.31072440G>T						ZNF668_ENST00000426488.2_Silent_p.P626P|ZNF668_ENST00000535577.1_Silent_p.P603P|ZNF668_ENST00000300849.4_Silent_p.P603P|ZNF668_ENST00000394983.2_Silent_p.P603P|ZNF668_ENST00000539836.3_Silent_p.P626P	p.P603P	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN			3	2593	-			603					C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Silent	SNP	ENST00000538906.1	37	c.1809C>A	CCDS10701.1																																																																																				0.672	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706		5	153	5	153	---	---	---	---
ITGAX	3687	broad.mit.edu	37	16	31373412	31373412	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:31373412G>T	ENST00000268296.4	+	11	1224	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V	ITGAX_ENST00000562522.1_Missense_Mutation_p.G368V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	368					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCGTTCTGGGGGCTGTGGGG	0.582																																						ENST00000268296.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						c.(1102-1104)gGg>gTg		integrin, alpha X (complement component 3 receptor 4 subunit)							93.0	97.0	95.0					16																	31373412		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31373412G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1103G>T	16.37:g.31373412G>T	ENSP00000268296:p.Gly368Val					ITGAX_ENST00000562522.1_Missense_Mutation_p.G368V	p.G368V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN			11	1224	+			368					Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1103G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.305998	0.60305	.	.	ENSG00000140678	ENST00000268296	T	0.78126	-1.15	4.5	3.54	0.40534	.	.	.	.	.	D	0.91385	0.7282	H	0.98133	4.155	0.53005	D	0.999964	D	0.89917	1.0	D	0.97110	1.0	D	0.92081	0.5672	9	0.87932	D	0	.	9.9809	0.41813	0.0985:0.0:0.9015:0.0	.	368	P20702	ITAX_HUMAN	V	368	ENSP00000268296:G368V	ENSP00000268296:G368V	G	+	2	0	ITGAX	31280913	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.009000	0.57110	1.023000	0.39654	0.580000	0.79431	GGG		0.582	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		7	333	7	333	---	---	---	---
SHCBP1	79801	broad.mit.edu	37	16	46638210	46638210	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:46638210C>A	ENST00000303383.3	-	6	1119	c.853G>T	c.(853-855)Ggg>Tgg	p.G285W		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	285					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AATTTTAACCCTTCCACCATG	0.363																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(853-855)Ggg>Tgg		SHC SH2-domain binding protein 1							110.0	110.0	110.0					16																	46638210		2203	4300	6503	SO:0001583	missense	79801							g.chr16:46638210C>A	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.853G>T	16.37:g.46638210C>A	ENSP00000306473:p.Gly285Trp						p.G285W	NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN			6	1119	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	285					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.853G>T	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108641	0.77096	.	.	ENSG00000171241	ENST00000303383	T	0.25085	1.82	3.99	3.99	0.46301	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.53774	-0.8391	10	0.66056	D	0.02	-17.2509	16.6169	0.84918	0.0:1.0:0.0:0.0	.	285	Q8NEM2	SHCBP_HUMAN	W	285	ENSP00000306473:G285W	ENSP00000306473:G285W	G	-	1	0	SHCBP1	45195711	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.696000	0.74598	2.209000	0.71365	0.460000	0.39030	GGG		0.363	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		6	323	6	323	---	---	---	---
SHCBP1	79801	broad.mit.edu	37	16	46649932	46649932	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:46649932G>T	ENST00000303383.3	-	4	788	c.522C>A	c.(520-522)ccC>ccA	p.P174P		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	174					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GCTCCTGCAGGGGCAACCGAT	0.483																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(520-522)ccC>ccA		SHC SH2-domain binding protein 1							118.0	117.0	117.0					16																	46649932		2203	4300	6503	SO:0001819	synonymous_variant	79801							g.chr16:46649932G>T	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.522C>A	16.37:g.46649932G>T							p.P174P	NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN			4	788	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	174					Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	ENST00000303383.3	37	c.522C>A	CCDS10720.1																																																																																				0.483	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		6	240	6	240	---	---	---	---
PAPD5	64282	broad.mit.edu	37	16	50250028	50250028	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:50250028C>A	ENST00000561678.1	+	4	680	c.606C>A	c.(604-606)ccC>ccA	p.P202P	PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000357464.3_Silent_p.P190P|PAPD5_ENST00000436909.3_Silent_p.P269P			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	190					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAACCTACCCCTCTGGACTC	0.438																																						ENST00000357464.3																			0				endometrium(1)|kidney(1)|lung(2)	4						c.(568-570)ccC>ccA		PAP associated domain containing 5							160.0	155.0	156.0					16																	50250028		1881	4115	5996	SO:0001819	synonymous_variant	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50250028C>A	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.606C>A	16.37:g.50250028C>A						PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000561678.1_Silent_p.P202P|PAPD5_ENST00000436909.3_Silent_p.P269P	p.P190P			Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	5	570	+		all_cancers(37;0.0452)	190					B4DV38|Q9NW67|Q9Y6C0	Silent	SNP	ENST00000561678.1	37	c.570C>A																																																																																					0.438	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		5	186	5	186	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51174722	51174722	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:51174722G>T	ENST00000251020.4	-	2	1444	c.1411C>A	c.(1411-1413)Cat>Aat	p.H471N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.H374N|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	471					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCTCCGGTATGGGAACGCAAG	0.512																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1120-1122)Cat>Aat		spalt-like transcription factor 1							98.0	93.0	95.0					16																	51174722		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174722G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1411C>A	16.37:g.51174722G>T	ENSP00000251020:p.His471Asn					SALL1_ENST00000251020.4_Missense_Mutation_p.H471N|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron	p.H374N	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1551	-		all_cancers(37;0.0322)	471			Poly-Ser.		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1120C>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554663	0.65425	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.67345	-0.26;-0.26	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.86364	0.5915	M	0.92169	3.28	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.89724	0.3921	10	0.72032	D	0.01	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	471	Q9NSC2	SALL1_HUMAN	N	471;374;435	ENSP00000251020:H471N;ENSP00000407914:H374N	ENSP00000251020:H471N	H	-	1	0	SALL1	49732223	1.000000	0.71417	0.995000	0.50966	0.859000	0.49053	9.864000	0.99589	2.386000	0.81285	0.563000	0.77884	CAT		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		4	116	4	116	---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81942029	81942029	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:81942029C>A	ENST00000359376.3	+	17	1780	c.1566C>A	c.(1564-1566)ccC>ccA	p.P522P		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	522					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						AGGATATACCCCCTACAGAAC	0.542																																						ENST00000359376.3																			0				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						c.(1564-1566)ccC>ccA		phospholipase C, gamma 2 (phosphatidylinositol-specific)							56.0	56.0	56.0					16																	81942029		1899	4109	6008	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81942029C>A		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.1566C>A	16.37:g.81942029C>A							p.P522P	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			17	1780	+			522					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1566C>A	CCDS42204.1																																																																																				0.542	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			4	87	4	87	---	---	---	---
ZCCHC14	23174	broad.mit.edu	37	16	87451234	87451234	+	Silent	SNP	C	C	A	rs374632777		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr16:87451234C>A	ENST00000268616.4	-	8	1021	c.804G>T	c.(802-804)gcG>gcT	p.A268A		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	268							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGGCTGAGCCCGCGCTGCCCG	0.682																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(802-804)gcG>gcT		zinc finger, CCHC domain containing 14							94.0	106.0	102.0					16																	87451234		2198	4300	6498	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451234C>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.804G>T	16.37:g.87451234C>A							p.A268A	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	1021	-			268					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.804G>T	CCDS10961.1																																																																																				0.682	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	174	4	174	---	---	---	---
FAM57A	79850	broad.mit.edu	37	17	641201	641201	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:641201C>A	ENST00000308278.8	+	3	558	c.322C>A	c.(322-324)Ctc>Atc	p.L108I	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.L108I	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	108	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGCGCCCTCCCTCACTCTTCG	0.507																																						ENST00000308278.8																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(322-324)Ctc>Atc		family with sequence similarity 57, member A							197.0	169.0	179.0					17																	641201		2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:641201C>A	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.322C>A	17.37:g.641201C>A	ENSP00000312017:p.Leu108Ile					FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.L108I	p.L108I	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	558	+			108			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.322C>A	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	C	4.594	0.110316	0.08780	.	.	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	.	.	.	5.89	-1.27	0.09347	TRAM/LAG1/CLN8 homology domain (3);	5.953300	0.00972	U	0.003240	T	0.35364	0.0929	L	0.53729	1.69	0.09310	N	1	B;B	0.32653	0.328;0.379	B;B	0.30646	0.113;0.118	T	0.05616	-1.0874	9	0.22706	T	0.39	-0.0821	4.653	0.12605	0.1308:0.5673:0.0885:0.2135	.	108;108	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	I	108;108;181	.	ENSP00000301324:L108I	L	+	1	0	FAM57A	587951	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.008000	0.12788	-0.486000	0.06744	-1.038000	0.02383	CTC		0.507	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		6	259	6	259	---	---	---	---
FAM57A	79850	broad.mit.edu	37	17	644626	644626	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:644626C>A	ENST00000308278.8	+	5	826	c.590C>A	c.(589-591)cCc>cAc	p.P197H	FAM57A_ENST00000301324.8_Missense_Mutation_p.P165H	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	197	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		CTTCTCTTCCCCTTCATGTAC	0.542																																						ENST00000308278.8																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10						c.(589-591)cCc>cAc		family with sequence similarity 57, member A							147.0	124.0	132.0					17																	644626		2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:644626C>A	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.590C>A	17.37:g.644626C>A	ENSP00000312017:p.Pro197His					FAM57A_ENST00000301324.8_Missense_Mutation_p.P165H	p.P197H	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	5	826	+			197			TLC.		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.590C>A	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532065	0.85812	.	.	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	D;D	0.88818	-2.43;-2.43	5.96	5.0	0.66597	TRAM/LAG1/CLN8 homology domain (3);	0.047897	0.85682	D	0.000000	D	0.95001	0.8382	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.983;0.99	D	0.95720	0.8765	10	0.87932	D	0	-19.4152	14.2847	0.66238	0.0:0.9293:0.0:0.0707	.	165;197	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	H	197;165;270	ENSP00000312017:P197H;ENSP00000301324:P165H	ENSP00000301324:P165H	P	+	2	0	FAM57A	591376	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	6.020000	0.70826	1.533000	0.49186	0.655000	0.94253	CCC		0.542	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2	NM_024792		5	139	5	139	---	---	---	---
OR1D2	4991	broad.mit.edu	37	17	2996055	2996055	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:2996055G>T	ENST00000331459.1	-	1	235	c.236C>A	c.(235-237)cCc>cAc	p.P79H		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	79					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						CAGCATCTTGGGGATTGTGTT	0.547																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(235-237)cCc>cAc		olfactory receptor, family 1, subfamily D, member 2							170.0	172.0	171.0					17																	2996055		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.chr17:2996055G>T	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.236C>A	17.37:g.2996055G>T	ENSP00000327585:p.Pro79His						p.P79H	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	235	-			79					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.236C>A	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	g	17.30	3.355498	0.61293	.	.	ENSG00000184166	ENST00000331459	T	0.01871	4.59	3.0	1.97	0.26223	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19248	0.0462	H	0.98155	4.16	0.35396	D	0.791181	D	0.89917	1.0	D	0.97110	1.0	T	0.38023	-0.9680	9	0.87932	D	0	.	8.9758	0.35935	0.1211:0.0:0.8789:0.0	.	79	P34982	OR1D2_HUMAN	H	79	ENSP00000327585:P79H	ENSP00000327585:P79H	P	-	2	0	OR1D2	2942805	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.301000	0.78850	1.489000	0.48450	0.543000	0.68304	CCC		0.547	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		6	269	6	269	---	---	---	---
OR1E2	8388	broad.mit.edu	37	17	3336249	3336249	+	Missense_Mutation	SNP	G	G	T	rs376349048		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:3336249G>T	ENST00000248384.1	-	1	886	c.887C>A	c.(886-888)cCc>cAc	p.P296H		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	296					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						GTAGATGAAGGGGGTCAGCAT	0.453																																						ENST00000248384.1																			0				endometrium(3)|large_intestine(3)|lung(3)	9						c.(886-888)cCc>cAc		olfactory receptor, family 1, subfamily E, member 2							80.0	72.0	75.0					17																	3336249		2203	4300	6503	SO:0001583	missense	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3336249G>T	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.887C>A	17.37:g.3336249G>T	ENSP00000248384:p.Pro296His						p.P296H	NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN			1	886	-			296					O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	c.887C>A	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877928	0.72294	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.64260	-0.09	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	T	0.82144	0.4973	M	0.87758	2.905	0.43632	D	0.996029	D	0.89917	1.0	D	0.97110	1.0	D	0.85180	0.1003	10	0.87932	D	0	.	17.3805	0.87403	0.0:0.0:1.0:0.0	.	296	P47887	OR1E2_HUMAN	H	296;286	ENSP00000248384:P296H	ENSP00000248384:P296H	P	-	2	0	OR1E2	3282999	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.987000	0.76206	2.677000	0.91161	0.561000	0.74099	CCC		0.453	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			6	165	6	165	---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3937384	3937384	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:3937384C>A	ENST00000381638.2	-	40	6633	c.6509G>T	c.(6508-6510)gGg>gTg	p.G2170V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2170							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGAACTGTCCCCTGCAGCAAA	0.542																																						ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(6508-6510)gGg>gTg		zinc finger, ZZ-type with EF-hand domain 1							157.0	148.0	151.0					17																	3937384		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:3937384C>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6509G>T	17.37:g.3937384C>A	ENSP00000371051:p.Gly2170Val						p.G2170V	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			40	6633	-			2170					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.6509G>T	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777150	0.49786	.	.	ENSG00000074755	ENST00000381638	T	0.21734	1.99	5.5	4.52	0.55395	.	0.148909	0.43416	D	0.000572	T	0.24198	0.0586	L	0.27053	0.805	0.50813	D	0.999894	P;P	0.51653	0.947;0.804	P;B	0.53313	0.723;0.356	T	0.02238	-1.1190	10	0.87932	D	0	-17.2068	11.0717	0.48008	0.1408:0.7149:0.1443:0.0	.	2170;2170	O43149-2;O43149	.;ZZEF1_HUMAN	V	2170	ENSP00000371051:G2170V	ENSP00000371051:G2170V	G	-	2	0	ZZEF1	3884133	0.962000	0.33011	1.000000	0.80357	0.992000	0.81027	2.549000	0.45803	1.511000	0.48818	0.655000	0.94253	GGG		0.542	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		7	372	7	372	---	---	---	---
USP6	9098	broad.mit.edu	37	17	5040480	5040480	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:5040480G>T	ENST00000574788.1	+	19	3054	c.824G>T	c.(823-825)gGg>gTg	p.G275V	USP6_ENST00000250066.6_Splice_Site_p.G275V|USP6_ENST00000332776.4_Splice_Site_p.G275V|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	275	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGATTGACGGGGTAAGGAGG	0.642			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(823-825)gGg>gTg		ubiquitin specific peptidase 6 (Tre-2 oncogene)							93.0	85.0	88.0					17																	5040480		2203	4300	6503	SO:0001630	splice_region_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5040480G>T	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.825+1G>T	17.37:g.5040480G>T						USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Splice_Site_p.G275V|USP6_ENST00000332776.4_Splice_Site_p.G275V	p.G275V			P35125	UBP6_HUMAN			19	3054	+			275			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Splice_Site	SNP	ENST00000574788.1	37	c.824G>T	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	g	11.32	1.602607	0.28534	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.53857	0.6;0.6	0.0465	0.0465	0.14256	Rab-GAP/TBC domain (4);	0.187782	0.46758	D	0.000263	T	0.47581	0.1453	N	0.11698	0.16	0.25087	N	0.990884	D	0.69078	0.997	D	0.76575	0.988	T	0.37842	-0.9688	9	0.87932	D	0	.	.	.	.	.	275	P35125	UBP6_HUMAN	V	275	ENSP00000328010:G275V;ENSP00000250066:G275V	ENSP00000250066:G275V	G	+	2	0	USP6	4981204	0.997000	0.39634	0.152000	0.22495	0.154000	0.21943	1.507000	0.35758	0.132000	0.18615	0.134000	0.15878	GGG		0.642	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	Missense_Mutation	5	107	5	107	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5437289	5437289	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:5437289G>T	ENST00000572272.1	-	9	2979	c.2980C>A	c.(2980-2982)Cct>Act	p.P994T	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Missense_Mutation_p.P994T|NLRP1_ENST00000354411.3_Missense_Mutation_p.P964T|NLRP1_ENST00000269280.4_Missense_Mutation_p.P994T|NLRP1_ENST00000262467.5_Missense_Mutation_p.P994T|NLRP1_ENST00000577119.1_Missense_Mutation_p.P964T			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	994					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCCTCAGTAGGGGTCATCACA	0.498																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2980-2982)Cct>Act		NLR family, pyrin domain containing 1							267.0	237.0	247.0					17																	5437289		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5437289G>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2980C>A	17.37:g.5437289G>T	ENSP00000460475:p.Pro994Thr					NLRP1_ENST00000269280.4_Missense_Mutation_p.P994T|NLRP1_ENST00000354411.3_Missense_Mutation_p.P964T|NLRP1_ENST00000572272.1_Missense_Mutation_p.P994T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.P964T|NLRP1_ENST00000262467.5_Missense_Mutation_p.P994T	p.P994T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			9	3534	-		Colorectal(1115;3.48e-05)	994					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.2980C>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	g	12.62	1.992564	0.35131	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.70399	-0.48;-0.48;-0.46;-0.4;-0.46	3.35	-1.19	0.09585	.	0.715744	0.11558	N	0.552099	T	0.72179	0.3428	M	0.70275	2.135	0.09310	N	1	D;D;D;D;D;D	0.69078	0.997;0.982;0.982;0.969;0.982;0.973	P;P;P;P;P;P	0.60682	0.878;0.805;0.805;0.643;0.805;0.771	T	0.59553	-0.7433	10	0.22706	T	0.39	.	0.7226	0.00943	0.2298:0.1883:0.3889:0.193	.	260;964;964;994;994;994	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	T	994;994;994;964;994;260	ENSP00000442029:P994T;ENSP00000262467:P994T;ENSP00000269280:P994T;ENSP00000346390:P964T;ENSP00000324366:P994T	ENSP00000262467:P994T	P	-	1	0	NLRP1	5378013	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.264000	0.02847	-0.154000	0.11118	0.639000	0.83563	CCT		0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		8	436	8	436	---	---	---	---
AIPL1	23746	broad.mit.edu	37	17	6331819	6331819	+	Missense_Mutation	SNP	C	C	A	rs563684228		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:6331819C>A	ENST00000381129.3	-	3	364	c.284G>T	c.(283-285)gGg>gTg	p.G95V	AIPL1_ENST00000575265.1_Missense_Mutation_p.G95V|AIPL1_ENST00000571740.1_Missense_Mutation_p.G95V|AIPL1_ENST00000574506.1_Missense_Mutation_p.G83V|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000576307.1_Missense_Mutation_p.G35V|AIPL1_ENST00000576776.1_Missense_Mutation_p.G95V|AIPL1_ENST00000570466.1_Missense_Mutation_p.G73V	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	95	PPIase FKBP-type.				negative regulation of apoptotic process (GO:0043066)|phototransduction, visible light (GO:0007603)|protein farnesylation (GO:0018343)|protein folding (GO:0006457)|regulation of cGMP metabolic process (GO:0030823)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)	farnesylated protein binding (GO:0001918)|unfolded protein binding (GO:0051082)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GGGGTAGACCCCCGTGTGCTG	0.637																																						ENST00000381129.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12						c.(283-285)gGg>gTg		aryl hydrocarbon receptor interacting protein-like 1							68.0	56.0	60.0					17																	6331819		2203	4300	6503	SO:0001583	missense	23746				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding	g.chr17:6331819C>A	AF148864	CCDS11075.1, CCDS32539.1, CCDS32540.1, CCDS67130.1, CCDS67131.1, CCDS67132.1, CCDS67133.1	17p13.1	2013-01-08	2001-11-29		ENSG00000129221	ENSG00000129221			359	protein-coding gene	gene with protein product		604392	"""aryl hydrocarbon receptor-interacting protein-like 1"""	LCA4		10615133, 14555765, 15365173	Standard	NM_001285402		Approved		uc002gcp.3	Q9NZN9	OTTHUMG00000102043	ENST00000381129.3:c.284G>T	17.37:g.6331819C>A	ENSP00000370521:p.Gly95Val					AIPL1_ENST00000576776.1_Missense_Mutation_p.G95V|AIPL1_ENST00000576307.1_Missense_Mutation_p.G35V|AIPL1_ENST00000570466.1_Missense_Mutation_p.G73V|AIPL1_ENST00000575265.1_Missense_Mutation_p.G95V|AIPL1_ENST00000571740.1_Missense_Mutation_p.G95V|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000574506.1_Missense_Mutation_p.G83V	p.G95V	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN		COAD - Colon adenocarcinoma(228;0.141)	3	364	-			95			PPIase FKBP-type.		D3DTM4|Q659W3|Q659W4|Q6ZZB6|Q8N6A0|Q9H873|Q9NS10	Missense_Mutation	SNP	ENST00000381129.3	37	c.284G>T	CCDS11075.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.582609	0.28180	.	.	ENSG00000129221	ENST00000381129;ENST00000381128;ENST00000444243	D;T	0.87650	-2.28;-0.94	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.90410	0.6998	L	0.49778	1.585	0.80722	D	1	D;B;D;D;P	0.89917	1.0;0.409;1.0;1.0;0.756	D;B;D;D;P	0.97110	1.0;0.082;1.0;1.0;0.585	D	0.87245	0.2269	10	0.16420	T	0.52	-41.5658	15.6483	0.77070	0.0:1.0:0.0:0.0	.	95;73;95;35;95	Q659W3;Q659W4;F1T0C4;Q9NZN9-2;Q9NZN9	.;.;.;.;AIPL1_HUMAN	V	95;35;95	ENSP00000370521:G95V;ENSP00000370520:G35V	ENSP00000370520:G35V	G	-	2	0	AIPL1	6272543	0.997000	0.39634	0.943000	0.38184	0.749000	0.42624	3.728000	0.54991	2.353000	0.79882	0.462000	0.41574	GGG		0.637	AIPL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219828.3	NM_014336		6	91	6	91	---	---	---	---
DLG4	1742	broad.mit.edu	37	17	7106238	7106238	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7106238G>T	ENST00000399506.2	-	8	962	c.771C>A	c.(769-771)ccC>ccA	p.P257P	DLG4_ENST00000485100.1_Silent_p.P254P|DLG4_ENST00000302955.6_Silent_p.P254P|DLG4_ENST00000399510.2_Silent_p.P300P			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	257					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TGATGTCTGGGGGAGCATAGC	0.527																																						ENST00000399510.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(898-900)ccC>ccA		discs, large homolog 4 (Drosophila)							117.0	119.0	119.0					17																	7106238		2089	4207	6296	SO:0001819	synonymous_variant	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7106238G>T	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.771C>A	17.37:g.7106238G>T						DLG4_ENST00000399506.2_Silent_p.P257P|DLG4_ENST00000485100.1_Silent_p.P254P|DLG4_ENST00000302955.6_Silent_p.P254P	p.P300P	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN			10	1752	-			257					B7Z1S1|G5E939|Q92941|Q9UKK8	Silent	SNP	ENST00000399506.2	37	c.900C>A																																																																																					0.527	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365		5	87	5	87	---	---	---	---
PHF23	79142	broad.mit.edu	37	17	7139749	7139749	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7139749G>T	ENST00000320316.3	-	4	723	c.497C>A	c.(496-498)cCc>cAc	p.P166H	DVL2_ENST00000575458.1_5'Flank|PHF23_ENST00000454255.2_Missense_Mutation_p.P162H|DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000576955.1_Missense_Mutation_p.P36H|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000571362.1_Missense_Mutation_p.P99H	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	166							zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						AAGGGGCACGGGGGTAAGAGC	0.602																																						ENST00000320316.3																			0				breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						c.(496-498)cCc>cAc		PHD finger protein 23							47.0	53.0	51.0					17																	7139749		1909	4109	6018	SO:0001583	missense	79142						zinc ion binding	g.chr17:7139749G>T	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.497C>A	17.37:g.7139749G>T	ENSP00000322579:p.Pro166His					PHF23_ENST00000571362.1_Missense_Mutation_p.P99H|PHF23_ENST00000576955.1_Missense_Mutation_p.P36H|PHF23_ENST00000454255.2_Missense_Mutation_p.P162H	p.P166H	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN			4	723	-			166					A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	Missense_Mutation	SNP	ENST00000320316.3	37	c.497C>A	CCDS42250.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896976	0.52121	.	.	ENSG00000040633	ENST00000320316;ENST00000454255	T;T	0.33654	1.41;1.4	4.81	4.81	0.61882	.	0.000000	0.43919	D	0.000517	T	0.51058	0.1652	L	0.43152	1.355	0.35811	D	0.823875	D;D	0.89917	1.0;0.996	D;P	0.83275	0.996;0.75	T	0.61426	-0.7065	10	0.72032	D	0.01	-6.7678	13.249	0.60041	0.0:0.0:1.0:0.0	.	99;166	B4DLK6;Q9BUL5	.;PHF23_HUMAN	H	166;162	ENSP00000322579:P166H;ENSP00000414607:P162H	ENSP00000322579:P166H	P	-	2	0	PHF23	7080473	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	5.487000	0.66863	2.492000	0.84095	0.563000	0.77884	CCC		0.602	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440047.1	NM_024297		6	120	6	120	---	---	---	---
YBX2	51087	broad.mit.edu	37	17	7192148	7192148	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7192148G>T	ENST00000007699.5	-	8	1117	c.1054C>A	c.(1054-1056)Cct>Act	p.P352T	YBX2_ENST00000570627.1_5'Flank	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	352	Pro-rich.|Required for mRNA-binding.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CTGTTGACAGGGGCTGAGGTC	0.532																																						ENST00000007699.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(1054-1056)Cct>Act		Y box binding protein 2							155.0	140.0	145.0					17																	7192148		2203	4300	6503	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7192148G>T	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.1054C>A	17.37:g.7192148G>T	ENSP00000007699:p.Pro352Thr						p.P352T	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN			8	1117	-			352			Pro-rich.|Required for mRNA-binding.		D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.1054C>A	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459281	0.26248	.	.	ENSG00000006047	ENST00000007699	T	0.52057	0.68	5.73	4.76	0.60689	.	0.127066	0.52532	D	0.000065	T	0.43366	0.1244	L	0.54323	1.7	0.31812	N	0.627079	B	0.30851	0.297	B	0.30029	0.11	T	0.57780	-0.7752	10	0.87932	D	0	0.0037	11.3269	0.49454	0.0843:0.0:0.9157:0.0	.	352	Q9Y2T7	YBOX2_HUMAN	T	352	ENSP00000007699:P352T	ENSP00000007699:P352T	P	-	1	0	YBX2	7132872	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	2.977000	0.49297	1.575000	0.49775	0.655000	0.94253	CCT		0.532	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982		4	78	4	78	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7852466	7852466	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:7852466C>A	ENST00000563694.1	+	18	3502	c.2577C>A	c.(2575-2577)ccC>ccA	p.P859P	CNTROB_ENST00000380262.3_Silent_p.P881P|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Silent_p.P860P	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	859	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GTGAGATCCCCCGGAAAGAGG	0.572																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2641-2643)ccC>ccA		centrobin, centrosomal BRCA2 interacting protein							63.0	64.0	64.0					17																	7852466		2203	4300	6503	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7852466C>A	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2577C>A	17.37:g.7852466C>A						CNTROB_ENST00000565740.1_Silent_p.P860P|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Silent_p.P859P	p.P881P	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			18	3568	+		Prostate(122;0.173)	859			Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.2643C>A	CCDS11126.1																																																																																				0.572	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		6	87	6	87	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11757555	11757555	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:11757555C>A	ENST00000262442.4	+	50	9811	c.9743C>A	c.(9742-9744)cCc>cAc	p.P3248H	DNAH9_ENST00000454412.2_Missense_Mutation_p.P3248H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3248	Stalk. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCAAGACCCCGAGTTCAAT	0.483																																						ENST00000262442.4																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(9742-9744)cCc>cAc		dynein, axonemal, heavy chain 9							151.0	139.0	143.0					17																	11757555		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11757555C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.9743C>A	17.37:g.11757555C>A	ENSP00000262442:p.Pro3248His					DNAH9_ENST00000454412.2_Missense_Mutation_p.P3248H	p.P3248H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	50	9811	+		Breast(5;0.0122)|all_epithelial(5;0.131)				Stalk (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.9743C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.364088	0.41902	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	D;D	0.82255	-1.59;-1.59	5.54	4.57	0.56435	Dynein heavy chain, coiled coil stalk (1);	0.125552	0.53938	D	0.000045	D	0.93644	0.7970	H	0.98089	4.145	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	D	0.94503	0.7711	10	0.87932	D	0	.	10.228	0.43238	0.1357:0.7943:0.0:0.07	.	3248	Q9NYC9	DYH9_HUMAN	H	3248;3248;1830	ENSP00000262442:P3248H;ENSP00000414874:P3248H	ENSP00000262442:P3248H	P	+	2	0	DNAH9	11698280	1.000000	0.71417	0.910000	0.35882	0.243000	0.25628	5.462000	0.66707	1.579000	0.49836	-0.145000	0.13849	CCC		0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		6	314	6	314	---	---	---	---
TOM1L2	146691	broad.mit.edu	37	17	17797015	17797015	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:17797015G>T	ENST00000379504.3	-	4	409	c.326C>A	c.(325-327)cCt>cAt	p.P109H	TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000318094.10_Missense_Mutation_p.P109H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.P109H|TOM1L2_ENST00000540946.1_Missense_Mutation_p.P109H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.P109H|TOM1L2_ENST00000581396.1_Intron	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	109	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				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)					AATGGTGGGAGGGTTGTTCTT	0.468																																					Melanoma(192;2505 2909 14455 25269)	ENST00000379504.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10						c.(325-327)cCt>cAt		target of myb1-like 2 (chicken)							119.0	119.0	119.0					17																	17797015		1918	4142	6060	SO:0001583	missense	146691				intracellular protein transport	intracellular		g.chr17:17797015G>T	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.326C>A	17.37:g.17797015G>T	ENSP00000368818:p.Pro109His					TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000318094.10_Missense_Mutation_p.P109H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.P109H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.P109H|TOM1L2_ENST00000581396.1_Intron|TOM1L2_ENST00000540946.1_Missense_Mutation_p.P109H	p.P109H	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN			4	409	-	all_neural(463;0.228)		109			VHS.		B7Z2L7|B7Z7F4|Q86V61|Q8TDE7|Q96M88	Missense_Mutation	SNP	ENST00000379504.3	37	c.326C>A	CCDS42270.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843131	0.91197	.	.	ENSG00000175662	ENST00000379504;ENST00000395739;ENST00000535933;ENST00000540946	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	4.62	4.62	0.57501	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.054006	0.85682	D	0.000000	T	0.47154	0.1430	M	0.72118	2.19	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.984;0.991;0.995	T	0.47898	-0.9081	10	0.54805	T	0.06	-12.3034	17.6644	0.88200	0.0:0.0:1.0:0.0	.	109;109;109;109	B7Z2U2;B7Z2L7;Q6ZVM7-3;Q6ZVM7	.;.;.;TM1L2_HUMAN	H	109	ENSP00000368818:P109H;ENSP00000379088:P109H;ENSP00000438621:P109H;ENSP00000437655:P109H	ENSP00000368818:P109H	P	-	2	0	TOM1L2	17737740	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.595000	0.98260	2.393000	0.81446	0.585000	0.79938	CCT		0.468	TOM1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131928.1			6	199	6	199	---	---	---	---
SHMT1	6470	broad.mit.edu	37	17	18238892	18238892	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:18238892G>T	ENST00000316694.3	-	8	1046	c.912C>A	c.(910-912)ccC>ccA	p.P304P	SHMT1_ENST00000352886.6_Intron|SHMT1_ENST00000539052.1_Silent_p.P166P|SHMT1_ENST00000354098.3_Intron	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	304					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CGTGGTTGTGGGGACCTCCCT	0.517																																						ENST00000316694.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13						c.(910-912)ccC>ccA		serine hydroxymethyltransferase 1 (soluble)	Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						232.0	219.0	224.0					17																	18238892		2203	4300	6503	SO:0001819	synonymous_variant	6470				carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr17:18238892G>T		CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.912C>A	17.37:g.18238892G>T						SHMT1_ENST00000539052.1_Silent_p.P166P|SHMT1_ENST00000354098.3_Intron|SHMT1_ENST00000352886.6_Intron	p.P304P	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN			8	1046	-			304					B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Silent	SNP	ENST00000316694.3	37	c.912C>A	CCDS11196.1																																																																																				0.517	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130831.2	NM_004169		7	392	7	392	---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19235220	19235220	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:19235220C>A	ENST00000314728.5	+	10	1950	c.1466C>A	c.(1465-1467)cCc>cAc	p.P489H	EPN2_ENST00000347697.2_Missense_Mutation_p.P432H|EPN2_ENST00000575595.1_Missense_Mutation_p.P197H|RP11-135L13.4_ENST00000581122.1_RNA|EPN2_ENST00000395618.3_Missense_Mutation_p.P204H|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395620.2_Missense_Mutation_p.P432H|EPN2_ENST00000571254.1_Missense_Mutation_p.P425H	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	489	6 X 3 AA repeats of [DE]-P-W.				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)					AGCCCTGACCCCTTTGAGTCT	0.582																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(1465-1467)cCc>cAc		epsin 2							201.0	160.0	174.0					17																	19235220		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19235220C>A	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.1466C>A	17.37:g.19235220C>A	ENSP00000320543:p.Pro489His					EPN2_ENST00000571254.1_Missense_Mutation_p.P425H|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000347697.2_Missense_Mutation_p.P432H|EPN2_ENST00000395618.3_Missense_Mutation_p.P204H|EPN2_ENST00000395620.2_Missense_Mutation_p.P432H|EPN2_ENST00000575595.1_Missense_Mutation_p.P197H	p.P489H	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN			10	1950	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		489			6 X 3 AA repeats of [DE]-P-W.		A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.1466C>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.609519	0.66558	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.76	2.31	0.28768	.	0.697476	0.14041	N	0.345451	T	0.33527	0.0866	M	0.76170	2.325	0.31188	N	0.701256	D;D;D;D;D;P	0.61697	0.966;0.966;0.99;0.99;0.966;0.939	P;P;P;P;P;P	0.58970	0.759;0.599;0.849;0.849;0.759;0.695	T	0.29882	-0.9997	10	0.26408	T	0.33	-17.1648	4.2731	0.10796	0.0:0.4475:0.0:0.5525	.	432;425;197;204;432;489	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC2;O95208	.;.;.;.;.;EPN2_HUMAN	H	432;204;489;432;432	ENSP00000261495:P432H;ENSP00000378980:P204H;ENSP00000320543:P489H;ENSP00000378982:P432H	ENSP00000320543:P489H	P	+	2	0	EPN2	19175813	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	1.394000	0.34509	1.078000	0.41014	0.462000	0.41574	CCC		0.582	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		7	240	7	240	---	---	---	---
SPECC1	92521	broad.mit.edu	37	17	20107684	20107684	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:20107684C>A	ENST00000261503.5	+	4	373	c.322C>A	c.(322-324)Cca>Aca	p.P108T	AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395522.2_Missense_Mutation_p.P27T|SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.P27T|SPECC1_ENST00000395529.3_Missense_Mutation_p.P108T|SPECC1_ENST00000395527.4_Missense_Mutation_p.P108T|SPECC1_ENST00000395530.2_Missense_Mutation_p.P27T|SPECC1_ENST00000472876.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	108					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CATTCCAGCCCCACGGGAATT	0.443																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(79-81)Cca>Aca		sperm antigen with calponin homology and coiled-coil domains 1							168.0	179.0	175.0					17																	20107684		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20107684C>A	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.322C>A	17.37:g.20107684C>A	ENSP00000261503:p.Pro108Thr					SPECC1_ENST00000395527.4_Missense_Mutation_p.P108T|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.P27T|SPECC1_ENST00000395529.3_Missense_Mutation_p.P108T|SPECC1_ENST00000395525.3_Missense_Mutation_p.P27T|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Missense_Mutation_p.P108T	p.P27T	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	287	+			108					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.79C>A	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925530	0.52759	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.64085	-0.08;2.9;2.8;2.8	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.76955	0.4060	M	0.65498	2.005	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.765	D;D;D;B	0.91635	0.999;0.999;0.999;0.353	T	0.75213	-0.3397	10	0.36615	T	0.2	-17.5326	16.4284	0.83832	0.0:1.0:0.0:0.0	.	27;27;108;108	Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;CYTSB_HUMAN	T	108;108;108;27;27;27	ENSP00000261503:P108T;ENSP00000378900:P108T;ENSP00000378893:P27T;ENSP00000378896:P27T	ENSP00000261503:P108T	P	+	1	0	SPECC1	20048276	1.000000	0.71417	0.734000	0.30879	0.876000	0.50452	7.163000	0.77524	2.558000	0.86282	0.591000	0.81541	CCA		0.443	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		8	423	8	423	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27030734	27030734	+	IGR	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27030734C>A	ENST00000314616.6	+	0	6518				PROCA1_ENST00000581289.1_3'UTR|PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000301039.2_Missense_Mutation_p.G285W|PROCA1_ENST00000439862.3_Missense_Mutation_p.G287W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTCCCTGCCCCCGGCCATTG	0.572																																						ENST00000301039.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16						c.(853-855)Ggg>Tgg		protein interacting with cyclin A1							104.0	101.0	102.0					17																	27030734		2203	4300	6503	SO:0001628	intergenic_variant	147011				lipid catabolic process		calcium ion binding|phospholipase A2 activity	g.chr17:27030734C>A	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27030734C>A						PROCA1_ENST00000439862.3_Missense_Mutation_p.G287W|PROCA1_ENST00000581289.1_3'UTR	p.G285W	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN			4	1046	-	Lung NSC(42;0.00431)		313					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.853G>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760472	0.49468	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.05139	3.49;3.49	5.27	-3.65	0.04502	.	0.695775	0.12495	N	0.463859	T	0.09113	0.0225	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.76575	0.936;0.971;0.988	T	0.21245	-1.0251	10	0.72032	D	0.01	-3.6069	1.6197	0.02711	0.1395:0.2773:0.138:0.4452	.	313;287;285	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	W	285;287;313	ENSP00000301039:G285W;ENSP00000411400:G287W	ENSP00000301039:G285W	G	-	1	0	PROCA1	24054861	0.000000	0.05858	0.000000	0.03702	0.642000	0.38348	-0.991000	0.03728	-0.313000	0.08728	0.655000	0.94253	GGG		0.572	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		7	212	7	212	---	---	---	---
RAB34	83871	broad.mit.edu	37	17	27043922	27043922	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27043922C>A	ENST00000395245.3	-	2	771	c.145G>T	c.(145-147)Gga>Tga	p.G49*	RAB34_ENST00000395242.2_Splice_Site_p.G49C|RAB34_ENST00000395243.3_Splice_Site_p.G49*|RAB34_ENST00000450529.1_Splice_Site_p.G49*|RAB34_ENST00000436730.3_Splice_Site_p.G49*|RAB34_ENST00000415040.2_Splice_Site_p.G49W|RAB34_ENST00000453384.3_Splice_Site_p.G106C|RAB34_ENST00000447716.1_Splice_Site_p.G106*|RPL23A_ENST00000422514.2_5'Flank|RAB34_ENST00000301043.6_Splice_Site_p.G49*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	49					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CTAACTCACCCCACGGTGCCT	0.602																																					Pancreas(175;216 2049 29940 32498 41589)	ENST00000395245.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14						c.(145-147)Gga>Tga		RAB34, member RAS oncogene family							56.0	59.0	58.0					17																	27043922		2203	4300	6503	SO:0001630	splice_region_variant	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27043922C>A	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.146+1G>T	17.37:g.27043922C>A						RAB34_ENST00000395242.2_Splice_Site_p.G49C|RAB34_ENST00000453384.3_Splice_Site_p.G106C|RAB34_ENST00000436730.3_Splice_Site_p.G49*|RAB34_ENST00000395243.3_Splice_Site_p.G49*|RAB34_ENST00000415040.2_Splice_Site_p.G49W|RAB34_ENST00000447716.1_Splice_Site_p.G106*|RAB34_ENST00000301043.6_Splice_Site_p.G49*|RAB34_ENST00000450529.1_Splice_Site_p.G49*	p.G49*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN			2	771	-	Lung NSC(42;0.00431)		49					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Splice_Site	SNP	ENST00000395245.3	37	c.145G>T	CCDS11240.1	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	C|C|C|C	37|37|37|37	6.502972|6.502972|6.502972|6.502972	0.97620|0.97620|0.97620|0.97620	.|.|.|.	.|.|.|.	ENSG00000109113|ENSG00000109113|ENSG00000109113|ENSG00000109113	ENST00000453384;ENST00000395242|ENST00000415040|ENST00000447716;ENST00000301043;ENST00000395243;ENST00000450529;ENST00000395245;ENST00000436730;ENST00000412625;ENST00000353676|ENST00000419712	T;T|T|.|.	0.69435|0.76968|.|.	-0.4;-0.14|-1.06|.|.	5.39|5.39|5.39|5.39	5.39|5.39|5.39|5.39	0.77823|0.77823|0.77823|0.77823	.|.|.|.	0.103999|0.103999|0.103999|.	0.64402|0.64402|0.64402|.	D|D|D|.	0.000004|0.000004|0.000004|.	T|T|.|T	0.63402|0.63402|.|0.63402	0.2508|0.2508|.|0.2508	L|L|L|L	0.43923|0.43923|0.43923|0.43923	1.385|1.385|1.385|1.385	.|.|.|.	.|.|.|.	.|.|.|.	D;D|D|.|.	0.76494|0.63880|.|.	0.999;0.996|0.993|.|.	D;P|P|.|.	0.68192|0.60173|.|.	0.956;0.88|0.87|.|.	T|T|.|T	0.59532|0.59532|.|0.59532	-0.7437|-0.7437|.|-0.7437	9|9|.|4	0.87932|0.87932|0.87932|.	D|D|D|.	0|0|0|.	-7.1499|-7.1499|-7.1499|-7.1499	17.8985|17.8985|17.8985|17.8985	0.88896|0.88896|0.88896|0.88896	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.|.	106;49|49|.|.	E7ES60;A8MYQ9|E9PEJ9|.|.	.;.|.|.|.	C|W|X|C	106;49|49|106;49;49;72;49;72;49;49|68	ENSP00000413156:G106C;ENSP00000378663:G49C|ENSP00000410279:G49W|.|.	ENSP00000378663:G49C|ENSP00000410279:G49W|ENSP00000301043:G49X|.	G|G|G|W	-|-|-|-	1|1|1|3	0|0|0|0	RAB34|RAB34|RAB34|RAB34	24068049|24068049|24068049|24068049	1.000000|1.000000|1.000000|1.000000	0.71417|0.71417|0.71417|0.71417	1.000000|1.000000|1.000000|1.000000	0.80357|0.80357|0.80357|0.80357	0.997000|0.997000|0.997000|0.997000	0.91878|0.91878|0.91878|0.91878	2.519000|2.519000|2.519000|2.519000	0.45546|0.45546|0.45546|0.45546	2.812000|2.812000|2.812000|2.812000	0.96745|0.96745|0.96745|0.96745	0.561000|0.561000|0.561000|0.561000	0.74099|0.74099|0.74099|0.74099	GGC|GGG|GGA|TGG		0.602	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934	Nonsense_Mutation	5	123	5	123	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27958281	27958281	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27958281G>T	ENST00000269033.3	-	15	4001	c.3850C>A	c.(3850-3852)Cct>Act	p.P1284T	SSH2_ENST00000540801.1_Missense_Mutation_p.P1311T|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1284					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGAGATGAGGGGATTCACAG	0.542																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3850-3852)Cct>Act		slingshot protein phosphatase 2							94.0	89.0	91.0					17																	27958281		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27958281G>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.3850C>A	17.37:g.27958281G>T	ENSP00000269033:p.Pro1284Thr					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.P1311T	p.P1284T	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN			15	4001	-			1284					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.3850C>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242846	0.22796	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.39406	1.08;1.08	6.17	4.16	0.48862	.	0.522632	0.20877	N	0.084070	T	0.35335	0.0928	L	0.50333	1.59	0.80722	D	1	B;B	0.15141	0.012;0.007	B;B	0.16722	0.016;0.007	T	0.12293	-1.0553	10	0.39692	T	0.17	-3.7117	7.9913	0.30242	0.063:0.1803:0.6479:0.1087	.	1311;1284	F5H527;Q76I76	.;SSH2_HUMAN	T	1284;1311	ENSP00000269033:P1284T;ENSP00000444743:P1311T	ENSP00000269033:P1284T	P	-	1	0	SSH2	24982407	1.000000	0.71417	0.982000	0.44146	0.943000	0.58893	2.110000	0.41873	0.907000	0.36646	0.655000	0.94253	CCT		0.542	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		7	166	7	166	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959328	27959328	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:27959328C>A	ENST00000269033.3	-	15	2954	c.2803G>T	c.(2803-2805)Ggg>Tgg	p.G935W	SSH2_ENST00000540801.1_Missense_Mutation_p.G962W|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	935					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGTATTTCCCTTTGCCTTTG	0.512																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2803-2805)Ggg>Tgg		slingshot protein phosphatase 2							150.0	152.0	151.0					17																	27959328		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959328C>A	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2803G>T	17.37:g.27959328C>A	ENSP00000269033:p.Gly935Trp					RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.G962W	p.G935W	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN			15	2954	-			935					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.2803G>T	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259914	0.23051	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.11063	2.82;2.81	5.38	4.21	0.49690	.	1.223680	0.05225	N	0.509269	T	0.29620	0.0739	L	0.60455	1.87	0.09310	N	0.999996	D;D	0.69078	0.997;0.99	D;P	0.65140	0.932;0.763	T	0.15867	-1.0422	10	0.66056	D	0.02	-4.8694	10.2876	0.43577	0.0:0.8296:0.0:0.1704	.	962;935	F5H527;Q76I76	.;SSH2_HUMAN	W	935;962	ENSP00000269033:G935W;ENSP00000444743:G962W	ENSP00000269033:G935W	G	-	1	0	SSH2	24983454	0.004000	0.15560	0.960000	0.40013	0.152000	0.21847	0.656000	0.24948	2.520000	0.84964	0.591000	0.81541	GGG		0.512	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		6	291	6	291	---	---	---	---
HEATR9	256957	broad.mit.edu	37	17	34191783	34191783	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:34191783G>T	ENST00000311880.2	-	4	580	c.432C>A	c.(430-432)ccC>ccA	p.P144P	C17orf66_ENST00000592980.1_Intron|C17orf66_ENST00000587585.1_5'UTR	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		144					hematopoietic progenitor cell differentiation (GO:0002244)					breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GCCACTTCAGGGGGTCCTGGG	0.542																																						ENST00000311880.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38						c.(430-432)ccC>ccA		chromosome 17 open reading frame 66							126.0	117.0	120.0					17																	34191783		2203	4300	6503	SO:0001819	synonymous_variant	256957						binding	g.chr17:34191783G>T																												ENST00000311880.2:c.432C>A	17.37:g.34191783G>T						C17orf66_ENST00000592980.1_Intron|C17orf66_ENST00000587585.1_5'UTR	p.P144P	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	4	580	-		Ovarian(249;0.17)	144					B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	c.432C>A	CCDS11299.1																																																																																				0.542	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			5	141	5	141	---	---	---	---
LOC101929950	101929950	broad.mit.edu	37	17	36375117	36375117	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:36375117G>T	ENST00000312412.4	-	3	400	c.401C>A	c.(400-402)cCt>cAt	p.P134H	RP11-1407O15.2_ENST00000544906.1_5'UTR																kidney(1)|lung(3)	4						CAGAGTACTAGGGAAAGACAA	0.343																																						ENST00000312412.4																			0				kidney(1)|lung(3)	4						c.(400-402)cCt>cAt																																						SO:0001583	missense	101929950							g.chr17:36375117G>T																												ENST00000312412.4:c.401C>A	17.37:g.36375117G>T	ENSP00000308540:p.Pro134His					RP11-1407O15.2_ENST00000544906.1_5'UTR	p.P134H							3	400	-									Missense_Mutation	SNP	ENST00000312412.4	37	c.401C>A		.	.	.	.	.	.	.	.	.	.	G	14.37	2.514378	0.44763	.	.	ENSG00000174093	ENST00000520237;ENST00000312412;ENST00000518004	T;T;T	0.05447	3.44;3.44;3.44	3.03	3.03	0.35002	.	0.000000	0.85682	D	0.000000	T	0.16041	0.0386	.	.	.	.	.	.	.	.	.	.	.	.	T	0.21449	-1.0245	6	0.66056	D	0.02	.	13.8153	0.63287	0.0:0.0:1.0:0.0	.	.	.	.	H	134;134;130	ENSP00000428261:P134H;ENSP00000308540:P134H;ENSP00000428330:P130H	ENSP00000308540:P134H	P	-	2	0	RP11-1407O15.2	33628920	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	9.425000	0.97467	1.521000	0.48983	0.194000	0.17425	CCT		0.343	RP11-1407O15.2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				4	110	4	110	---	---	---	---
GPR179	440435	broad.mit.edu	37	17	36485335	36485335	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:36485335G>T	ENST00000342292.4	-	11	4137	c.4117C>A	c.(4117-4119)Cct>Act	p.P1373T	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1373					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTGATGTCAGGGGTATGAGCT	0.597																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4117-4119)Cct>Act		G protein-coupled receptor 179							78.0	86.0	83.0					17																	36485335		2040	4188	6228	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36485335G>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4117C>A	17.37:g.36485335G>T	ENSP00000345060:p.Pro1373Thr						p.P1373T	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	4137	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1373						Missense_Mutation	SNP	ENST00000342292.4	37	c.4117C>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	2.721	-0.266667	0.05754	.	.	ENSG00000188888	ENST00000342292	T	0.50548	0.74	4.74	-3.03	0.05429	.	1.225210	0.06000	N	0.647627	T	0.38532	0.1044	L	0.47716	1.5	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.36383	-0.9750	10	0.62326	D	0.03	1.8555	6.4156	0.21715	0.3544:0.269:0.3766:0.0	.	1373	Q6PRD1	GP179_HUMAN	T	1373	ENSP00000345060:P1373T	ENSP00000345060:P1373T	P	-	1	0	GPR179	33738861	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.252000	0.08806	-1.100000	0.03030	-1.842000	0.00583	CCT		0.597	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			6	182	6	182	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37566496	37566496	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:37566496G>T	ENST00000300651.6	-	17	2201	c.1978C>A	c.(1978-1980)Ctt>Att	p.L660I	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTTCCATAAAGGGTTGAGAAA	0.512										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(1978-1980)Ctt>Att		mediator complex subunit 1							87.0	86.0	87.0					17																	37566496		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37566496G>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.1978C>A	17.37:g.37566496G>T	ENSP00000300651:p.Leu660Ile	HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.L660I	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	2201	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	660			Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.1978C>A	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370742	0.42003	.	.	ENSG00000125686	ENST00000300651	T	0.56611	0.45	5.62	5.62	0.85841	.	.	.	.	.	T	0.55257	0.1909	N	0.24115	0.695	0.43588	D	0.995937	D	0.63880	0.993	D	0.70016	0.967	T	0.53365	-0.8449	9	0.37606	T	0.19	-9.12	10.1495	0.42784	0.1479:0.0:0.8521:0.0	.	660	Q15648	MED1_HUMAN	I	660	ENSP00000300651:L660I	ENSP00000300651:L660I	L	-	1	0	MED1	34820022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.922000	0.63404	2.637000	0.89404	0.561000	0.74099	CTT		0.512	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		6	250	6	250	---	---	---	---
MED1	5469	broad.mit.edu	37	17	37566851	37566851	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:37566851G>T	ENST00000394287.3	-	17	1828	c.1623C>A	c.(1621-1623)ccC>ccA	p.P541P	MED1_ENST00000300651.6_Silent_p.P541P			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGCTAGCCGGGGGCAGGTTCT	0.547										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(1621-1623)ccC>ccA		mediator complex subunit 1							105.0	101.0	102.0					17																	37566851		2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37566851G>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1623C>A	17.37:g.37566851G>T		HNSCC(31;0.082)				MED1_ENST00000394287.3_Silent_p.P541P	p.P541P	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	1846	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	541			Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000394287.3	37	c.1623C>A																																																																																					0.547	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		5	174	5	174	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37686895	37686895	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:37686895C>A	ENST00000447079.4	+	14	3832	c.3799C>A	c.(3799-3801)Cct>Act	p.P1267T	CDK12_ENST00000430627.2_Missense_Mutation_p.P1258T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1267	Poly-Pro.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GAAGAGGCCCCCTGAGCCCCC	0.557			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(3799-3801)Cct>Act		cyclin-dependent kinase 12							89.0	119.0	109.0					17																	37686895		2200	4291	6491	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37686895C>A	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3799C>A	17.37:g.37686895C>A	ENSP00000398880:p.Pro1267Thr	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.P1258T	p.P1267T	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	3832	+			1267			Poly-Pro.		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.3799C>A	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211780	0.39102	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.79845	-1.1;-1.31	5.35	5.35	0.76521	.	0.000000	0.48767	D	0.000165	D	0.85465	0.5703	L	0.38175	1.15	0.42318	D	0.992241	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	D	0.84769	0.0766	10	0.42905	T	0.14	-9.4085	17.9979	0.89189	0.0:1.0:0.0:0.0	.	1267;1258	Q9NYV4;Q9NYV4-2	CDK12_HUMAN;.	T	1258;1267	ENSP00000407720:P1258T;ENSP00000398880:P1267T	ENSP00000407720:P1258T	P	+	1	0	CDK12	34940421	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	6.274000	0.72587	2.789000	0.95967	0.655000	0.94253	CCT		0.557	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		9	387	9	387	---	---	---	---
RAPGEFL1	51195	broad.mit.edu	37	17	38348923	38348923	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38348923C>A	ENST00000456989.2	+	12	1315	c.1269C>A	c.(1267-1269)ccC>ccA	p.P423P	RAPGEFL1_ENST00000264644.6_Silent_p.P368P|RAPGEFL1_ENST00000436615.3_Silent_p.P368P|RAPGEFL1_ENST00000544503.1_Silent_p.P417P			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	574					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CTGTGATTCCCTTCGTGCCTC	0.532																																					Esophageal Squamous(28;274 750 6870 14218 42203)	ENST00000436615.3																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						c.(1102-1104)ccC>ccA		Rap guanine nucleotide exchange factor (GEF)-like 1							234.0	234.0	234.0					17																	38348923		2203	4300	6503	SO:0001819	synonymous_variant	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38348923C>A	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.1269C>A	17.37:g.38348923C>A						RAPGEFL1_ENST00000544503.1_Silent_p.P417P|RAPGEFL1_ENST00000264644.6_Silent_p.P368P|RAPGEFL1_ENST00000456989.2_Silent_p.P423P	p.P368P	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN			12	1594	+			574						Silent	SNP	ENST00000456989.2	37	c.1104C>A																																																																																					0.532	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		7	373	7	373	---	---	---	---
WIPF2	147179	broad.mit.edu	37	17	38420795	38420795	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38420795C>A	ENST00000323571.4	+	5	607	c.367C>A	c.(367-369)Cca>Aca	p.P123T	WIPF2_ENST00000583130.1_Missense_Mutation_p.P123T|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P123T|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000394103.3_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	123					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AGCTGCTGCCCCAAGGCCTCC	0.567										HNSCC(43;0.11)																												ENST00000323571.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						c.(367-369)Cca>Aca		WAS/WASL interacting protein family, member 2							57.0	66.0	63.0					17																	38420795		2203	4299	6502	SO:0001583	missense	147179					cytoplasm|cytoskeleton	actin binding	g.chr17:38420795C>A	BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.367C>A	17.37:g.38420795C>A	ENSP00000320924:p.Pro123Thr	HNSCC(43;0.11)				WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.P123T|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.P123T	p.P123T	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN			5	607	+			123					A8K0L3|Q658J8|Q71RE1|Q8TE44	Missense_Mutation	SNP	ENST00000323571.4	37	c.367C>A	CCDS11364.1	.	.	.	.	.	.	.	.	.	.	c	22.4	4.282794	0.80692	.	.	ENSG00000171475	ENST00000323571	T	0.34072	1.38	5.16	5.16	0.70880	.	0.229424	0.44902	D	0.000418	T	0.49287	0.1548	M	0.64404	1.975	0.80722	D	1	D	0.54047	0.964	P	0.50314	0.637	T	0.51911	-0.8645	10	0.62326	D	0.03	-6.7117	18.9226	0.92530	0.0:1.0:0.0:0.0	.	123	Q8TF74	WIPF2_HUMAN	T	123	ENSP00000320924:P123T	ENSP00000320924:P123T	P	+	1	0	WIPF2	35674321	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	6.491000	0.73649	2.701000	0.92244	0.544000	0.68410	CCA		0.567	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257157.2	NM_133264		6	158	6	158	---	---	---	---
TNS4	84951	broad.mit.edu	37	17	38643289	38643289	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38643289C>A	ENST00000254051.6	-	4	1445	c.1287G>T	c.(1285-1287)gaG>gaT	p.E429D		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	429					apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACGACGTACCCTCTGGGCATG	0.507																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(1285-1287)gaG>gaT		tensin 4							272.0	292.0	285.0					17																	38643289		2203	4300	6503	SO:0001630	splice_region_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38643289C>A	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1288+1G>T	17.37:g.38643289C>A							p.E429D	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		4	1445	-		Breast(137;0.000496)	429					A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Splice_Site	SNP	ENST00000254051.6	37	c.1287G>T	CCDS11368.1	.	.	.	.	.	.	.	.	.	.	C	3.839	-0.034120	0.07543	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.63744	-0.06	5.24	-4.97	0.03029	.	1.031350	0.07725	N	0.944295	T	0.33323	0.0859	N	0.19112	0.55	0.19775	N	0.999957	B	0.10296	0.003	B	0.06405	0.002	T	0.23619	-1.0183	10	0.12103	T	0.63	-5.7675	0.1222	0.00066	0.3372:0.1744:0.2216:0.2669	.	429	Q8IZW8	TENS4_HUMAN	D	429	ENSP00000254051:E429D	ENSP00000254051:E429D	E	-	3	2	TNS4	35896815	0.001000	0.12720	0.201000	0.23476	0.213000	0.24496	-2.571000	0.00913	-0.812000	0.04363	0.655000	0.94253	GAG		0.507	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865	Missense_Mutation	8	723	8	723	---	---	---	---
KRT24	192666	broad.mit.edu	37	17	38859679	38859679	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:38859679C>A	ENST00000264651.2	-	1	323	c.267G>T	c.(265-267)ggG>ggT	p.G89G		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	89	Gly-rich.|Head.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AGCTAGAACCCCCACCAAATC	0.567																																					GBM(61;380 1051 14702 23642 31441)	ENST00000264651.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(265-267)ggG>ggT		keratin 24							82.0	103.0	96.0					17																	38859679		2203	4300	6503	SO:0001819	synonymous_variant	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38859679C>A		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.267G>T	17.37:g.38859679C>A							p.G89G	NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN			1	323	-		Breast(137;0.00526)	89			Gly-rich.|Head.		Q9NXG7	Silent	SNP	ENST00000264651.2	37	c.267G>T	CCDS11372.1																																																																																				0.567	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		5	119	5	119	---	---	---	---
KCNH4	23415	broad.mit.edu	37	17	40328132	40328132	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40328132G>T	ENST00000264661.3	-	5	1101	c.769C>A	c.(769-771)Ccc>Acc	p.P257T	KCNH4_ENST00000607371.1_Missense_Mutation_p.P257T	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	257					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAAGTGATGGGGGTGTCATCG	0.592																																					NSCLC(117;707 1703 2300 21308 31858)	ENST00000264661.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32						c.(769-771)Ccc>Acc		potassium voltage-gated channel, subfamily H (eag-related), member 4							148.0	122.0	131.0					17																	40328132		2203	4300	6503	SO:0001583	missense	23415				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity	g.chr17:40328132G>T	AB022698	CCDS11420.1	17q21	2012-07-05				ENSG00000089558		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6253	protein-coding gene	gene with protein product		604528				10455180, 16382104	Standard	NM_012285		Approved	Kv12.3, elk1	uc002hzb.2	Q9UQ05		ENST00000264661.3:c.769C>A	17.37:g.40328132G>T	ENSP00000264661:p.Pro257Thr					KCNH4_ENST00000607371.1_Missense_Mutation_p.P257T	p.P257T	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	1101	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	257						Missense_Mutation	SNP	ENST00000264661.3	37	c.769C>A	CCDS11420.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531063	0.27387	.	.	ENSG00000089558	ENST00000264661	D	0.98849	-5.18	5.53	4.57	0.56435	.	0.000000	0.40469	N	0.001086	D	0.94896	0.8350	N	0.19112	0.55	0.31414	N	0.6751	B	0.23442	0.085	B	0.14023	0.01	D	0.92463	0.5979	10	0.18710	T	0.47	.	11.5236	0.50567	0.1425:0.0:0.8575:0.0	.	257	Q9UQ05	KCNH4_HUMAN	T	257	ENSP00000264661:P257T	ENSP00000264661:P257T	P	-	1	0	KCNH4	37581658	0.998000	0.40836	0.997000	0.53966	0.845000	0.48019	2.626000	0.46460	1.584000	0.49913	0.655000	0.94253	CCC		0.592	KCNH4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449791.2	NM_012285		7	197	7	197	---	---	---	---
STAT3	6774	broad.mit.edu	37	17	40474448	40474448	+	Silent	SNP	A	A	G			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40474448A>G	ENST00000264657.5	-	21	2265	c.1953T>C	c.(1951-1953)gcT>gcC	p.A651A	STAT3_ENST00000585517.1_Silent_p.A651A|STAT3_ENST00000404395.3_Silent_p.A651A|STAT3_ENST00000588969.1_Silent_p.A651A|STAT3_ENST00000389272.3_Silent_p.A553A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	651	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)	p.A651A(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGATGATTTCAGCAAATGACA	0.473									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			1	Substitution - coding silent(1)	p.A651A(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1951-1953)gcT>gcC		signal transducer and activator of transcription 3 (acute-phase response factor)							262.0	228.0	240.0					17																	40474448		2203	4300	6503	SO:0001819	synonymous_variant	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40474448A>G	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1953T>C	17.37:g.40474448A>G						STAT3_ENST00000585517.1_Silent_p.A651A|STAT3_ENST00000588969.1_Silent_p.A651A|STAT3_ENST00000404395.3_Silent_p.A651A|STAT3_ENST00000389272.3_Silent_p.A553A	p.A651A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	21	2265	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	651			SH2.		A8K7B8|K7ENL3|O14916|Q9BW54	Silent	SNP	ENST00000264657.5	37	c.1953T>C	CCDS32656.1																																																																																				0.473	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		98	239	98	239	---	---	---	---
NAGLU	4669	broad.mit.edu	37	17	40690429	40690429	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40690429G>T	ENST00000225927.2	+	3	705	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	202					carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCTGGCCTGGGGGCGAATGGG	0.587																																						ENST00000225927.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12						c.(604-606)Ggg>Tgg		N-acetylglucosaminidase, alpha	N-Acetyl-D-glucosamine(DB00141)						99.0	107.0	104.0					17																	40690429		2203	4300	6503	SO:0001583	missense	4669					lysosome	alpha-N-acetylglucosaminidase activity	g.chr17:40690429G>T		CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.604G>T	17.37:g.40690429G>T	ENSP00000225927:p.Gly202Trp					RP11-400F19.8_ENST00000585572.1_RNA	p.G202W	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	3	705	+		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	202						Missense_Mutation	SNP	ENST00000225927.2	37	c.604G>T	CCDS11427.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670330	0.47677	.	.	ENSG00000108784	ENST00000225927	D	0.98747	-5.11	5.42	5.42	0.78866	Alpha-N-acetylglucosaminidase, tim-barrel domain (1);	0.205916	0.44285	D	0.000474	D	0.96034	0.8708	N	0.25380	0.74	0.38813	D	0.955452	B	0.29378	0.243	B	0.29942	0.109	D	0.95251	0.8360	10	0.66056	D	0.02	-21.4688	12.2217	0.54437	0.0828:0.0:0.9172:0.0	.	202	P54802	ANAG_HUMAN	W	202	ENSP00000225927:G202W	ENSP00000225927:G202W	G	+	1	0	NAGLU	37943955	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.830000	0.62745	2.527000	0.85204	0.555000	0.69702	GGG		0.587	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450385.1	NM_000263		6	262	6	262	---	---	---	---
CNTNAP1	8506	broad.mit.edu	37	17	40843875	40843875	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40843875C>A	ENST00000264638.4	+	16	2613	c.2396C>A	c.(2395-2397)cCc>cAc	p.P799H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	799					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTACGCTTCCCCCCAATCCGT	0.562																																						ENST00000264638.4																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2395-2397)cCc>cAc		contactin associated protein 1							223.0	229.0	227.0					17																	40843875		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843875C>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2396C>A	17.37:g.40843875C>A	ENSP00000264638:p.Pro799His					CTD-3193K9.3_ENST00000592440.1_RNA	p.P799H	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	16	2613	+		Breast(137;0.000143)	799						Missense_Mutation	SNP	ENST00000264638.4	37	c.2396C>A	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042872	0.93685	.	.	ENSG00000108797	ENST00000264638	T	0.80566	-1.39	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.64402	D	0.000001	D	0.90783	0.7106	M	0.86651	2.83	0.80722	D	1	D	0.64830	0.994	D	0.66497	0.944	D	0.91897	0.5528	10	0.87932	D	0	.	18.5346	0.91006	0.0:1.0:0.0:0.0	.	799	P78357	CNTP1_HUMAN	H	799	ENSP00000264638:P799H	ENSP00000264638:P799H	P	+	2	0	CNTNAP1	38097401	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.619000	0.83057	2.755000	0.94549	0.655000	0.94253	CCC		0.562	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		9	615	9	615	---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42476068	42476068	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:42476068G>T	ENST00000591680.1	-	8	3407	c.3377C>A	c.(3376-3378)cCc>cAc	p.P1126H	GPATCH8_ENST00000434000.1_Missense_Mutation_p.P1048H	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1126							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACCTTGTGGGGGGTCCTTGAG	0.547																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(3142-3144)cCc>cAc		G patch domain containing 8							110.0	108.0	109.0					17																	42476068		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476068G>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3377C>A	17.37:g.42476068G>T	ENSP00000467556:p.Pro1126His					GPATCH8_ENST00000591680.1_Missense_Mutation_p.P1126H	p.P1048H			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	3425	-		Prostate(33;0.0181)	1126					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.3143C>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008104	0.54361	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.15952	2.38	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.32496	0.0831	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01834	-1.1264	10	0.38643	T	0.18	-16.1436	18.4809	0.90811	0.0:0.0:1.0:0.0	.	1126	Q9UKJ3	GPTC8_HUMAN	H	1126;1048	ENSP00000395016:P1048H	ENSP00000335486:P1126H	P	-	2	0	GPATCH8	39831594	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.263000	0.95617	2.602000	0.87976	0.650000	0.86243	CCC		0.547	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		5	175	5	175	---	---	---	---
KANSL1	284058	broad.mit.edu	37	17	44248976	44248976	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:44248976C>A	ENST00000262419.6	-	2	1004	c.534G>T	c.(532-534)ggG>ggT	p.G178G	KANSL1_ENST00000575318.1_Silent_p.G178G|KANSL1_ENST00000432791.1_Silent_p.G178G|KANSL1_ENST00000572904.1_Silent_p.G178G|KANSL1_ENST00000574590.1_Silent_p.G178G|KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000393476.3_5'UTR	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	178					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)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											CCCGTTTTCCCCCATTGAGGG	0.478																																						ENST00000262419.6																			0											c.(532-534)ggG>ggT		KAT8 regulatory NSL complex subunit 1							105.0	139.0	128.0					17																	44248976		2203	4300	6503	SO:0001819	synonymous_variant	284058					MLL1 complex	protein binding	g.chr17:44248976C>A	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.534G>T	17.37:g.44248976C>A						KANSL1_ENST00000574590.1_Silent_p.G178G|KANSL1_ENST00000572904.1_Silent_p.G178G|KANSL1_ENST00000432791.1_Silent_p.G178G|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.G178G	p.G178G	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN			2	1004	-			178					A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	ENST00000262419.6	37	c.534G>T	CCDS11503.1																																																																																				0.478	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440274.1	NM_015443		7	337	7	337	---	---	---	---
SCRN2	90507	broad.mit.edu	37	17	45915953	45915953	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:45915953G>T	ENST00000290216.9	-	6	1007	c.882C>A	c.(880-882)ccC>ccA	p.P294P	SCRN2_ENST00000407215.3_Silent_p.P294P|SCRN2_ENST00000584123.1_Silent_p.P302P	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	294						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TGGGATCCTGGGGCAGGACAG	0.607																																						ENST00000407215.3																			0				cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						c.(880-882)ccC>ccA		secernin 2							112.0	101.0	104.0					17																	45915953		2203	4300	6503	SO:0001819	synonymous_variant	90507				proteolysis		dipeptidase activity	g.chr17:45915953G>T	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.882C>A	17.37:g.45915953G>T						SCRN2_ENST00000290216.9_Silent_p.P294P|SCRN2_ENST00000584123.1_Silent_p.P302P	p.P294P			Q96FV2	SCRN2_HUMAN			6	963	-			294					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	ENST00000290216.9	37	c.882C>A	CCDS11519.1																																																																																				0.607	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		5	144	5	144	---	---	---	---
SNX11	29916	broad.mit.edu	37	17	46198732	46198732	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:46198732C>A	ENST00000393405.2	+	8	1029	c.675C>A	c.(673-675)ccC>ccA	p.P225P	SNX11_ENST00000359238.2_Silent_p.P225P|SNX11_ENST00000452859.2_Silent_p.P81P|SNX11_ENST00000582104.1_Silent_p.P217P|SNX11_ENST00000580219.1_Silent_p.P217P|SNX11_ENST00000439357.2_Silent_p.P164P	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	225					intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						CTCTCCCACCCCTCTCCTCAC	0.532																																						ENST00000393405.2																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						c.(673-675)ccC>ccA		sorting nexin 11							145.0	132.0	137.0					17																	46198732		2203	4300	6503	SO:0001819	synonymous_variant	29916				cell communication|protein transport	membrane	phosphatidylinositol binding	g.chr17:46198732C>A	AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.675C>A	17.37:g.46198732C>A						SNX11_ENST00000580219.1_Silent_p.P217P|SNX11_ENST00000582104.1_Silent_p.P217P|SNX11_ENST00000439357.2_Silent_p.P164P|SNX11_ENST00000359238.2_Silent_p.P225P|SNX11_ENST00000452859.2_Silent_p.P81P	p.P225P	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN			8	1029	+			225					B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Silent	SNP	ENST00000393405.2	37	c.675C>A	CCDS11526.1																																																																																				0.532	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443423.1			7	297	7	297	---	---	---	---
HOXB1	3211	broad.mit.edu	37	17	46608169	46608169	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:46608169G>T	ENST00000239174.6	-	1	190	c.98C>A	c.(97-99)cCa>cAa	p.P33Q	HOXB1_ENST00000577092.1_Missense_Mutation_p.P33Q	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	33					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGCCGAGCTTGGGGGAAAGGA	0.622																																						ENST00000239174.6																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(97-99)cCa>cAa		homeobox B1							58.0	66.0	63.0					17																	46608169		2203	4298	6501	SO:0001583	missense	3211					nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr17:46608169G>T		CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.98C>A	17.37:g.46608169G>T	ENSP00000355140:p.Pro33Gln					HOXB1_ENST00000577092.1_Missense_Mutation_p.P33Q	p.P33Q	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN			1	190	-			33					Q4VB03	Missense_Mutation	SNP	ENST00000239174.6	37	c.98C>A	CCDS32675.1	.	.	.	.	.	.	.	.	.	.	G	6.212	0.407240	0.11754	.	.	ENSG00000120094	ENST00000239174	D	0.89050	-2.46	5.17	3.17	0.36434	.	0.641545	0.13832	N	0.359644	D	0.84383	0.5460	L	0.49126	1.545	0.28264	N	0.924714	B	0.23735	0.09	B	0.22386	0.039	T	0.73509	-0.3960	10	0.30078	T	0.28	.	9.7593	0.40522	0.0733:0.0:0.7861:0.1406	.	33	P14653	HXB1_HUMAN	Q	33	ENSP00000355140:P33Q	ENSP00000355140:P33Q	P	-	2	0	HOXB1	43963168	0.289000	0.24334	0.546000	0.28166	0.297000	0.27493	3.195000	0.51013	0.752000	0.32923	-0.271000	0.10264	CCA		0.622	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			5	168	5	168	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48264184	48264184	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:48264184C>T	ENST00000225964.5	-	48	3749	c.3631G>A	c.(3631-3633)Gat>Aat	p.D1211N		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1211	Nonhelical region (C-terminal).				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.D1211N(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CGGCCACCATCGTGAGCCTTC	0.637			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	1	Substitution - Missense(1)	p.D1211N(1)	prostate(1)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(3631-3633)Gat>Aat		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						108.0	97.0	101.0					17																	48264184		2203	4300	6503	SO:0001583	missense	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48264184C>T	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.3631G>A	17.37:g.48264184C>T	ENSP00000225964:p.Asp1211Asn						p.D1211N	NM_000088.3	NP_000079	P02452	CO1A1_HUMAN			48	3749	-			1211			Nonhelical region (C-terminal).		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	c.3631G>A	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776835	0.49786	.	.	ENSG00000108821	ENST00000225964	D	0.89681	-2.55	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	D	0.94588	0.8256	M	0.88105	2.93	0.58432	D	0.999996	D	0.69078	0.997	D	0.74348	0.983	D	0.94416	0.7636	10	0.38643	T	0.18	.	14.7474	0.69499	0.0:1.0:0.0:0.0	.	1211	P02452	CO1A1_HUMAN	N	1211	ENSP00000225964:D1211N	ENSP00000225964:D1211N	D	-	1	0	COL1A1	45619183	0.959000	0.32827	0.998000	0.56505	0.285000	0.27093	5.612000	0.67681	1.984000	0.57885	0.313000	0.20887	GAT		0.637	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			45	122	45	122	---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49057226	49057226	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:49057226C>A	ENST00000262013.7	-	26	3498	c.3290G>T	c.(3289-3291)tGg>tTg	p.W1097L	SPAG9_ENST00000510283.1_Missense_Mutation_p.W940L|SPAG9_ENST00000505279.1_Missense_Mutation_p.W1087L|SPAG9_ENST00000357122.4_Missense_Mutation_p.W1083L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1097					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)			ATCCCCCACCCACGCAAGCTG	0.473																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(3289-3291)tGg>tTg		sperm associated antigen 9							178.0	144.0	156.0					17																	49057226		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.chr17:49057226C>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.3290G>T	17.37:g.49057226C>A	ENSP00000262013:p.Trp1097Leu					SPAG9_ENST00000505279.1_Missense_Mutation_p.W1087L|SPAG9_ENST00000357122.4_Missense_Mutation_p.W1083L|SPAG9_ENST00000510283.1_Missense_Mutation_p.W940L	p.W1097L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		26	3498	-			1097					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.3290G>T	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	34	5.403099	0.96030	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.65815	0.995;0.992;0.986;0.984	D;D;D;D	0.68483	0.958;0.943;0.958;0.933	T	0.59445	-0.7453	10	0.11794	T	0.64	-6.1783	19.9144	0.97043	0.0:1.0:0.0:0.0	.	1087;1097;1083;940	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	L	1097;854;844;940;1087;1083;695	ENSP00000262013:W1097L;ENSP00000423165:W940L;ENSP00000426900:W1087L;ENSP00000349636:W1083L	ENSP00000262013:W1097L	W	-	2	0	SPAG9	46412225	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	7.440000	0.80464	2.716000	0.92895	0.491000	0.48974	TGG		0.473	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		4	155	4	155	---	---	---	---
C17orf67	339210	broad.mit.edu	37	17	54892322	54892322	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:54892322G>T	ENST00000575658.1	-	6	1342	c.136C>A	c.(136-138)Ccg>Acg	p.P46T	C17orf67_ENST00000397861.2_Missense_Mutation_p.P22T|C17orf67_ENST00000397862.2_Missense_Mutation_p.P46T	NM_001085430.2	NP_001078899.2	Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67	46						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					GTCAAAATCGGGGAGGTCTCT	0.522																																						ENST00000397861.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7						c.(64-66)Ccg>Acg		chromosome 17 open reading frame 67							226.0	227.0	227.0					17																	54892322		1887	4111	5998	SO:0001583	missense	339210					extracellular region		g.chr17:54892322G>T	BC041467	CCDS42364.1, CCDS42364.2	17q23.2	2012-10-11			ENSG00000214226	ENSG00000214226			27900	protein-coding gene	gene with protein product						12477932	Standard	NM_001085430		Approved		uc002iuq.4	Q0P5P2	OTTHUMG00000132083	ENST00000575658.1:c.136C>A	17.37:g.54892322G>T	ENSP00000461483:p.Pro46Thr					C17orf67_ENST00000575658.1_Missense_Mutation_p.P46T|C17orf67_ENST00000397862.2_Missense_Mutation_p.P46T	p.P22T			Q0P5P2	CQ067_HUMAN			6	1343	-	Breast(9;2.49e-06)		46						Missense_Mutation	SNP	ENST00000575658.1	37	c.64C>A		.	.	.	.	.	.	.	.	.	.	G	16.02	3.003762	0.54254	.	.	ENSG00000214226	ENST00000397861;ENST00000397862	.	.	.	4.7	4.7	0.59300	.	0.000000	0.50627	U	0.000118	T	0.68054	0.2959	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72666	-0.4224	9	0.87932	D	0	-36.0562	17.986	0.89156	0.0:0.0:1.0:0.0	.	46	Q0P5P2	CQ067_HUMAN	T	46	.	ENSP00000380959:P46T	P	-	1	0	C17orf67	52247321	1.000000	0.71417	0.975000	0.42487	0.308000	0.27856	6.285000	0.72658	2.307000	0.77673	0.205000	0.17691	CCG		0.522	C17orf67-202	KNOWN	basic	protein_coding	protein_coding		NM_001085430		8	545	8	545	---	---	---	---
CACNG5	27091	broad.mit.edu	37	17	64873579	64873579	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:64873579C>A	ENST00000533854.1	+	2	366	c.129C>A	c.(127-129)ccC>ccA	p.P43P	CACNG5_ENST00000307139.3_Silent_p.P43P|CACNG5_ENST00000169565.3_Silent_p.P43P			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	43					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGATTGTGCCCCAGAACCAGA	0.622																																						ENST00000533854.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(127-129)ccC>ccA		calcium channel, voltage-dependent, gamma subunit 5							170.0	132.0	145.0					17																	64873579		2203	4300	6503	SO:0001819	synonymous_variant	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64873579C>A	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.129C>A	17.37:g.64873579C>A						CACNG5_ENST00000169565.3_Silent_p.P43P|CACNG5_ENST00000307139.3_Silent_p.P43P	p.P43P			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		2	366	+			43					A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Silent	SNP	ENST00000533854.1	37	c.129C>A	CCDS11665.1																																																																																				0.622	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		4	95	4	95	---	---	---	---
COG1	9382	broad.mit.edu	37	17	71197345	71197345	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:71197345C>A	ENST00000299886.4	+	7	1459	c.1379C>A	c.(1378-1380)cCt>cAt	p.P460H		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	460					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			AGCAACTCCCCTTCAAATAAG	0.507																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1378-1380)cCt>cAt		component of oligomeric golgi complex 1							146.0	136.0	139.0					17																	71197345		2203	4300	6503	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71197345C>A		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.1379C>A	17.37:g.71197345C>A	ENSP00000299886:p.Pro460His						p.P460H	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		7	1459	+			460					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.1379C>A	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	1.004	-0.689866	0.03328	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.24908	1.83;1.84	4.85	2.69	0.31865	.	0.809698	0.12138	N	0.496116	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B;B;B	0.33826	0.0;0.427;0.0	B;B;B	0.31245	0.001;0.126;0.001	T	0.14364	-1.0475	10	0.41790	T	0.15	-1.4777	8.1832	0.31324	0.1554:0.7624:0.0:0.0822	.	460;460;460	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	H	460	ENSP00000400111:P460H;ENSP00000299886:P460H	ENSP00000299886:P460H	P	+	2	0	COG1	68708940	0.013000	0.17824	0.022000	0.16811	0.011000	0.07611	2.610000	0.46325	1.362000	0.46000	0.655000	0.94253	CCT		0.507	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			6	296	6	296	---	---	---	---
DNAI2	64446	broad.mit.edu	37	17	72285780	72285780	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:72285780C>A	ENST00000311014.6	+	5	582	c.515C>A	c.(514-516)cCc>cAc	p.P172H	DNAI2_ENST00000307504.5_Missense_Mutation_p.P29H|DNAI2_ENST00000582036.1_Missense_Mutation_p.P172H|DNAI2_ENST00000446837.2_Missense_Mutation_p.P172H|DNAI2_ENST00000579490.1_Missense_Mutation_p.P229H			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	172					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCCTGGCACCCCGATGGCAAC	0.582									Kartagener syndrome																													ENST00000579490.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(685-687)cCc>cAc		dynein, axonemal, intermediate chain 2							57.0	56.0	56.0					17																	72285780		2203	4300	6503	SO:0001583	missense	64446	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72285780C>A	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.515C>A	17.37:g.72285780C>A	ENSP00000308312:p.Pro172His					DNAI2_ENST00000311014.6_Missense_Mutation_p.P172H|DNAI2_ENST00000446837.2_Missense_Mutation_p.P172H|DNAI2_ENST00000307504.5_Missense_Mutation_p.P29H|DNAI2_ENST00000582036.1_Missense_Mutation_p.P172H	p.P229H			Q9GZS0	DNAI2_HUMAN			4	821	+			172					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.686C>A	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.315557	0.81469	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.76709	-1.04;-1.04;-1.04	5.01	5.01	0.66863	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91334	0.7267	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93685	0.7002	10	0.87932	D	0	-24.4836	18.3074	0.90187	0.0:1.0:0.0:0.0	.	172	Q9GZS0	DNAI2_HUMAN	H	172;29;172	ENSP00000308312:P172H;ENSP00000302929:P29H;ENSP00000400252:P172H	ENSP00000302929:P29H	P	+	2	0	DNAI2	69797375	1.000000	0.71417	0.935000	0.37517	0.781000	0.44180	7.077000	0.76814	2.333000	0.79357	0.313000	0.20887	CCC		0.582	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		4	69	4	69	---	---	---	---
NUP85	79902	broad.mit.edu	37	17	73204669	73204669	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:73204669G>T	ENST00000245544.4	+	2	152	c.81G>T	c.(79-81)tgG>tgT	p.W27C	NUP85_ENST00000579324.1_Intron|NUP85_ENST00000579298.1_Missense_Mutation_p.W27C|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000541827.1_Intron|NUP85_ENST00000447371.2_5'UTR	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	27					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ATTTTGACTGGGGTCCAGGGG	0.363																																						ENST00000245544.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(79-81)tgG>tgT		nucleoporin 85kDa							174.0	189.0	184.0					17																	73204669		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73204669G>T	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.81G>T	17.37:g.73204669G>T	ENSP00000245544:p.Trp27Cys					NUP85_ENST00000541827.1_Intron|NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000579298.1_Missense_Mutation_p.W27C|NUP85_ENST00000447371.2_5'UTR	p.W27C	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		2	152	+	all_lung(278;0.14)|Lung NSC(278;0.168)		27					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.81G>T	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759406	0.49468	.	.	ENSG00000125450	ENST00000245544	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.76572	0.4006	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79617	-0.1729	9	0.87932	D	0	-5.0291	15.6851	0.77402	0.0:0.0:1.0:0.0	.	27	Q9BW27	NUP85_HUMAN	C	27	.	ENSP00000245544:W27C	W	+	3	0	NUP85	70716264	1.000000	0.71417	1.000000	0.80357	0.254000	0.26022	7.181000	0.77682	2.291000	0.77112	0.467000	0.42956	TGG		0.363	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		7	583	7	583	---	---	---	---
CANT1	124583	broad.mit.edu	37	17	76993250	76993250	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:76993250C>A	ENST00000302345.2	-	2	949	c.455G>T	c.(454-456)gGg>gTg	p.G152V	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.G152V|CANT1_ENST00000392446.5_Missense_Mutation_p.G152V	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	152					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CTCCAGGACCCCATGGTCTTT	0.567			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(454-456)gGg>gTg		calcium activated nucleotidase 1							146.0	144.0	145.0					17																	76993250		2203	4300	6503	SO:0001583	missense	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993250C>A	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.455G>T	17.37:g.76993250C>A	ENSP00000307674:p.Gly152Val					CANT1_ENST00000392446.5_Missense_Mutation_p.G152V|CANT1_ENST00000591773.1_Missense_Mutation_p.G152V	p.G152V	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	949	-			152					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	ENST00000302345.2	37	c.455G>T	CCDS11760.1	.	.	.	.	.	.	.	.	.	.	C	4.174	0.030841	0.08101	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.83419	-1.72;-1.72	5.27	0.114	0.14639	.	0.851710	0.10892	N	0.622592	T	0.53190	0.1781	N	0.00683	-1.26	0.18873	N	0.999988	B	0.02656	0.0	B	0.06405	0.002	T	0.46076	-0.9217	10	0.27082	T	0.32	0.596	8.3789	0.32459	0.1087:0.6862:0.0:0.205	.	152	Q8WVQ1	CANT1_HUMAN	V	152;152;152;101	ENSP00000307674:G152V;ENSP00000376241:G152V	ENSP00000307674:G152V	G	-	2	0	CANT1	74504845	0.000000	0.05858	0.001000	0.08648	0.444000	0.32077	0.218000	0.17622	-0.251000	0.09542	0.561000	0.74099	GGG		0.567	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		7	403	7	403	---	---	---	---
GAA	2548	broad.mit.edu	37	17	78079689	78079689	+	Missense_Mutation	SNP	G	G	T	rs145866792		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:78079689G>T	ENST00000302262.3	+	3	907	c.688G>T	c.(688-690)Gtg>Ttg	p.V230L	GAA_ENST00000390015.3_Missense_Mutation_p.V230L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	230					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.V230L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GGACGGCCGCGTGCTGTGAGT	0.662																																						ENST00000302262.3																			1	Substitution - Missense(1)	p.V230L(1)	prostate(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(688-690)Gtg>Ttg		glucosidase, alpha; acid	Acarbose(DB00284)						36.0	33.0	34.0					17																	78079689		2202	4300	6502	SO:0001583	missense	2548				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	g.chr17:78079689G>T		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.688G>T	17.37:g.78079689G>T	ENSP00000305692:p.Val230Leu					GAA_ENST00000390015.3_Missense_Mutation_p.V230L	p.V230L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		3	907	+	all_neural(118;0.117)		230					Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	37	c.688G>T	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.970961	0.53614	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.83837	-1.77;-1.77	5.15	4.16	0.48862	Glycoside hydrolase-type carbohydrate-binding (1);	0.140625	0.47852	N	0.000213	D	0.87873	0.6287	M	0.92604	3.325	0.40072	D	0.976023	D	0.58970	0.984	P	0.49085	0.6	D	0.88455	0.3051	10	0.56958	D	0.05	-34.7005	8.294	0.31973	0.0794:0.0:0.7636:0.1569	.	230	P10253	LYAG_HUMAN	L	230	ENSP00000305692:V230L;ENSP00000374665:V230L	ENSP00000305692:V230L	V	+	1	0	GAA	75694284	1.000000	0.71417	0.839000	0.33178	0.022000	0.10575	6.308000	0.72820	1.134000	0.42165	-0.182000	0.12963	GTG		0.662	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1			22	36	22	36	---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78796034	78796034	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:78796034C>A	ENST00000306801.3	+	8	1286	c.924C>A	c.(922-924)ccC>ccA	p.P308P	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000537330.1_Silent_p.P123P|RPTOR_ENST00000544334.2_Silent_p.P308P|RPTOR_ENST00000570891.1_Silent_p.P308P	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	308					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGAGGACGCCCCTGGGTGAAC	0.622																																						ENST00000306801.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						c.(922-924)ccC>ccA		regulatory associated protein of MTOR, complex 1							217.0	219.0	218.0					17																	78796034		2203	4300	6503	SO:0001819	synonymous_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78796034C>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.924C>A	17.37:g.78796034C>A						RPTOR_ENST00000537330.1_Silent_p.P123P|RPTOR_ENST00000570891.1_Silent_p.P308P|RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Silent_p.P308P	p.P308P	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			8	1286	+			308					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.924C>A	CCDS11773.1																																																																																				0.622	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		11	417	11	417	---	---	---	---
TSPAN10	83882	broad.mit.edu	37	17	79612297	79612297	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:79612297G>T	ENST00000572675.1	+	0	316				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GGCTGTCAAGGGGTCTCTGGG	0.667																																						ENST00000328585.4																			0				ovary(1)	1								tetraspanin 10							29.0	34.0	33.0					17																	79612297		1883	4105	5988			83882					integral to membrane		g.chr17:79612297G>T	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612297G>T						TSPAN10_ENST00000572675.1_RNA		NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		0	406	+	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)							Q8N548	RNA	SNP	ENST00000572675.1	37			.	.	.	.	.	.	.	.	.	.	G	15.77	2.932107	0.52866	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.79554	-1.28	4.3	2.24	0.28232	.	0.456661	0.22209	N	0.063128	D	0.85885	0.5801	M	0.75264	2.295	0.23003	N	0.99845	D;D	0.89917	1.0;0.999	D;D	0.75020	0.985;0.975	T	0.74429	-0.3668	10	0.66056	D	0.02	-12.771	5.8427	0.18643	0.2429:0.1406:0.6164:0.0	.	106;106	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	W	106	ENSP00000331620:G106W	ENSP00000331620:G106W	G	+	1	0	TSPAN10	77222702	1.000000	0.71417	0.739000	0.30968	0.853000	0.48598	2.937000	0.48979	1.026000	0.39733	0.462000	0.41574	GGG		0.667	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000440313.1	NM_031945		5	116	5	116	---	---	---	---
LPIN2	9663	broad.mit.edu	37	18	2925282	2925282	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:2925282G>T	ENST00000261596.4	-	14	2116	c.1878C>A	c.(1876-1878)ccC>ccA	p.P626P		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	626					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CGTGGCTCAGGGGCTCTGTGG	0.537																																						ENST00000261596.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29						c.(1876-1878)ccC>ccA		lipin 2							115.0	110.0	112.0					18																	2925282		2203	4300	6503	SO:0001819	synonymous_variant	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2925282G>T	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1878C>A	18.37:g.2925282G>T							p.P626P	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	14	2116	-			626					A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	37	c.1878C>A	CCDS11829.1																																																																																				0.537	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		5	171	5	171	---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3129449	3129449	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:3129449C>A	ENST00000356443.4	-	18	2908	c.2575G>T	c.(2575-2577)Ggg>Tgg	p.G859W	MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000400569.3_Missense_Mutation_p.G859W|MYOM1_ENST00000261606.7_Intron	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	859					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCACGCGCCCCCTGGAGGCG	0.557											OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000400569.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2575-2577)Ggg>Tgg		myomesin 1							103.0	107.0	106.0					18																	3129449		1973	4164	6137	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3129449C>A	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2575G>T	18.37:g.3129449C>A	ENSP00000348821:p.Gly859Trp		OREG0024838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	608	MYOM1_ENST00000261606.7_Intron|MYOM1_ENST00000582016.1_5'UTR|MYOM1_ENST00000356443.4_Missense_Mutation_p.G859W	p.G859W			P52179	MYOM1_HUMAN			18	2908	-			859					Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2575G>T	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.423630	0.43020	.	.	ENSG00000101605	ENST00000356443;ENST00000400569	T;T	0.44482	0.92;0.93	5.69	4.82	0.62117	.	0.612384	0.16105	N	0.229355	T	0.44222	0.1283	N	0.19112	0.55	0.38530	D	0.948941	D	0.63880	0.993	P	0.55923	0.787	T	0.49643	-0.8918	10	0.56958	D	0.05	.	14.396	0.67010	0.0:0.9291:0.0:0.0709	.	859	P52179	MYOM1_HUMAN	W	859	ENSP00000348821:G859W;ENSP00000383413:G859W	ENSP00000348821:G859W	G	-	1	0	MYOM1	3119449	1.000000	0.71417	0.945000	0.38365	0.360000	0.29518	4.589000	0.61006	1.410000	0.46936	0.591000	0.81541	GGG		0.557	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		5	185	5	185	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8819031	8819031	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:8819031C>A	ENST00000306329.11	+	11	3887	c.3887C>A	c.(3886-3888)cCc>cAc	p.P1296H	SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000359865.3_Missense_Mutation_p.P977H|SOGA2_ENST00000400050.3_Missense_Mutation_p.P936H|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Missense_Mutation_p.P936H																							AACGTTCGCCCCTTTCCCCAC	0.527																																						ENST00000359865.3																			0											c.(2929-2931)cCc>cAc		SOGA family member 2							59.0	63.0	62.0					18																	8819031		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8819031C>A																												ENST00000306329.11:c.3887C>A	18.37:g.8819031C>A	ENSP00000305027:p.Pro1296His					SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000306329.11_Missense_Mutation_p.P1296H|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000400050.3_Missense_Mutation_p.P936H|SOGA2_ENST00000517570.1_Missense_Mutation_p.P936H	p.P977H	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			13	3072	+			1287						Missense_Mutation	SNP	ENST00000306329.11	37	c.2930C>A		.	.	.	.	.	.	.	.	.	.	C	17.77	3.471414	0.63737	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	T;T;T	0.40756	1.02;1.02;1.02	5.96	3.84	0.44239	.	0.132042	0.35495	N	0.003162	T	0.44829	0.1312	L	0.54323	1.7	0.09310	N	0.999998	D	0.53885	0.963	P	0.50378	0.639	T	0.34875	-0.9811	10	0.56958	D	0.05	-14.0224	8.8447	0.35164	0.125:0.7297:0.0:0.1453	.	977	Q9Y4B5-3	.	H	998;936;977;936	ENSP00000429556:P936H;ENSP00000352927:P977H;ENSP00000382924:P936H	ENSP00000305027:P998H	P	+	2	0	CCDC165	8809031	0.432000	0.25554	0.481000	0.27354	0.301000	0.27625	1.603000	0.36794	1.492000	0.48499	0.655000	0.94253	CCC		0.527	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			6	152	6	152	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25565614	25565614	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:25565614G>T	ENST00000269141.3	-	12	2276	c.1853C>A	c.(1852-1854)cCc>cAc	p.P618H	CDH2_ENST00000399380.3_Missense_Mutation_p.P587H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	618	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATTGAATTGGGGTCTGGAGT	0.388																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1852-1854)cCc>cAc		cadherin 2, type 1, N-cadherin (neuronal)							100.0	100.0	100.0					18																	25565614		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25565614G>T	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1853C>A	18.37:g.25565614G>T	ENSP00000269141:p.Pro618His					CDH2_ENST00000399380.3_Missense_Mutation_p.P587H	p.P618H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			12	2276	-			618			Cadherin 5.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1853C>A	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.969101	0.74131	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.54071	0.59;0.59	5.96	5.96	0.96718	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	L	0.58302	1.8	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.91635	0.865;0.999	T	0.68762	-0.5323	10	0.49607	T	0.09	.	20.394	0.98981	0.0:0.0:1.0:0.0	.	587;618	A8MWK3;P19022	.;CADH2_HUMAN	H	618;587	ENSP00000269141:P618H;ENSP00000382312:P587H	ENSP00000269141:P618H	P	-	2	0	CDH2	23819612	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.830000	0.97506	0.585000	0.79938	CCC		0.388	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		6	208	6	208	---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32438306	32438306	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:32438306C>A	ENST00000399113.3	+	15	1509	c.1509C>A	c.(1507-1509)ccC>ccA	p.P503P	DTNA_ENST00000601125.1_Silent_p.P125P|DTNA_ENST00000598334.1_Silent_p.P443P|DTNA_ENST00000598774.1_Silent_p.P446P|DTNA_ENST00000591182.1_Silent_p.P151P|DTNA_ENST00000269191.6_Silent_p.P503P|DTNA_ENST00000598142.1_Silent_p.P446P|DTNA_ENST00000556414.3_Silent_p.P155P|DTNA_ENST00000283365.9_Silent_p.P446P|DTNA_ENST00000269190.7_Silent_p.P504P|DTNA_ENST00000597674.1_Silent_p.P125P|DTNA_ENST00000399121.5_Silent_p.P443P|DTNA_ENST00000595022.1_Silent_p.P443P|DTNA_ENST00000269192.7_Silent_p.P212P|DTNA_ENST00000597599.1_Silent_p.P443P|DTNA_ENST00000444659.1_Silent_p.P503P|DTNA_ENST00000399097.3_Silent_p.P151P|DTNA_ENST00000348997.5_Silent_p.P500P|DTNA_ENST00000599844.1_Silent_p.P125P|DTNA_ENST00000596745.1_Silent_p.P253P			Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	503					neuromuscular synaptic transmission (GO:0007274)|signal transduction (GO:0007165)|striated muscle contraction (GO:0006941)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CTTCTCAGCCCACGCCAGAGA	0.517																																						ENST00000283365.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1336-1338)ccC>ccA		dystrobrevin, alpha							68.0	66.0	66.0					18																	32438306		2203	4300	6503	SO:0001819	synonymous_variant	1837				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	g.chr18:32438306C>A	U84540	CCDS11908.1, CCDS11909.1, CCDS42426.1, CCDS45848.1, CCDS56060.1, CCDS56061.1, CCDS56062.1, CCDS56063.1, CCDS59309.1, CCDS59310.1, CCDS59311.1, CCDS59312.1, CCDS59313.1, CCDS59314.1	18q12	2014-09-17			ENSG00000134769	ENSG00000134769			3057	protein-coding gene	gene with protein product	"""dystrophin-related protein 3"""	601239				8081380, 15834686	Standard	NM_001390		Approved	D18S892E, DTN, DTN-1, DTN-2, DTN-3, DRP3	uc010dmn.1	Q9Y4J8	OTTHUMG00000132309	ENST00000399113.3:c.1509C>A	18.37:g.32438306C>A						DTNA_ENST00000597599.1_Silent_p.P443P|DTNA_ENST00000598334.1_Silent_p.P443P|DTNA_ENST00000599844.1_Silent_p.P125P|DTNA_ENST00000597674.1_Silent_p.P125P|DTNA_ENST00000598142.1_Silent_p.P446P|DTNA_ENST00000595022.1_Silent_p.P443P|DTNA_ENST00000399121.5_Silent_p.P443P|DTNA_ENST00000269192.7_Silent_p.P212P|DTNA_ENST00000399097.3_Silent_p.P151P|DTNA_ENST00000348997.5_Silent_p.P500P|DTNA_ENST00000444659.1_Silent_p.P503P|DTNA_ENST00000399113.3_Silent_p.P503P|DTNA_ENST00000596745.1_Silent_p.P253P|DTNA_ENST00000269191.6_Silent_p.P503P|DTNA_ENST00000601125.1_Silent_p.P125P|DTNA_ENST00000269190.7_Silent_p.P504P|DTNA_ENST00000556414.3_Silent_p.P155P|DTNA_ENST00000591182.1_Silent_p.P151P|DTNA_ENST00000598774.1_Silent_p.P446P	p.P446P	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN			15	1689	+			503			Syntrophin-binding region.		A8K541|A8MSZ0|A8MUY4|B4DGS6|B4DIR0|B4DIU8|M0QYX6|M0R397|O15332|O15333|O75697|Q13197|Q13198|Q13199|Q13498|Q13499|Q13500|Q59GK7|Q9BS59	Silent	SNP	ENST00000399113.3	37	c.1338C>A	CCDS59311.1																																																																																				0.517	DTNA-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255422.2	NM_001390		4	75	4	75	---	---	---	---
ZBTB7C	201501	broad.mit.edu	37	18	45566869	45566869	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:45566869G>T	ENST00000588982.1	-	3	1111	c.610C>A	c.(610-612)Ccc>Acc	p.P204T	ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P204T|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P204T			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	204							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AAGTCCCTGGGGGTGTCTGAA	0.567																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(610-612)Ccc>Acc		zinc finger and BTB domain containing 7C							90.0	88.0	88.0					18																	45566869		2203	4300	6503	SO:0001583	missense	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45566869G>T	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.610C>A	18.37:g.45566869G>T	ENSP00000468782:p.Pro204Thr					ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P204T|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P204T|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P204T	p.P204T			A1YPR0	ZBT7C_HUMAN			3	1111	-			204					O73453	Missense_Mutation	SNP	ENST00000588982.1	37	c.610C>A	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906989	0.33628	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.11712	2.75;2.75	5.18	5.18	0.71444	.	0.325687	0.32753	N	0.005686	T	0.09686	0.0238	N	0.19112	0.55	0.36979	D	0.894223	B;B;B	0.25105	0.063;0.118;0.118	B;B;B	0.19666	0.026;0.026;0.026	T	0.17258	-1.0375	10	0.54805	T	0.06	.	18.6567	0.91456	0.0:0.0:1.0:0.0	.	204;204;204	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	T	204	ENSP00000439781:P204T;ENSP00000328732:P204T	ENSP00000328732:P204T	P	-	1	0	ZBTB7C	43820867	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	6.931000	0.75863	2.407000	0.81776	0.491000	0.48974	CCC		0.567	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		5	169	5	169	---	---	---	---
CTIF	9811	broad.mit.edu	37	18	46284729	46284729	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:46284729C>A	ENST00000256413.3	+	8	1319	c.1024C>A	c.(1024-1026)Ctg>Atg	p.L342M	CTIF_ENST00000382998.4_Missense_Mutation_p.L342M	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	342					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CAAAATTACCCTGCTCCAGTC	0.537																																						ENST00000256413.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1024-1026)Ctg>Atg		CBP80/20-dependent translation initiation factor							152.0	179.0	170.0					18																	46284729		2199	4294	6493	SO:0001583	missense	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284729C>A	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1024C>A	18.37:g.46284729C>A	ENSP00000256413:p.Leu342Met					CTIF_ENST00000382998.4_Missense_Mutation_p.L342M	p.L342M	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN			8	1319	+			342					B3KTR8|Q8IVD5	Missense_Mutation	SNP	ENST00000256413.3	37	c.1024C>A	CCDS11935.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.604681	0.66445	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.70986	-0.53;-0.08	5.51	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.76919	0.4055	L	0.55481	1.735	0.41468	D	0.988085	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.978	T	0.77965	-0.2389	10	0.72032	D	0.01	-7.3569	6.1263	0.20182	0.0:0.8011:0.0:0.1989	.	342;342	O43310-2;O43310	.;CTIF_HUMAN	M	342;342;294	ENSP00000256413:L342M;ENSP00000372459:L342M	ENSP00000256413:L342M	L	+	1	2	CTIF	44538727	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.900000	0.39828	2.584000	0.87258	0.561000	0.74099	CTG		0.537	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		8	495	8	495	---	---	---	---
MBD2	8932	broad.mit.edu	37	18	51690931	51690931	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:51690931G>T	ENST00000256429.3	-	5	1299	c.1071C>A	c.(1069-1071)ccC>ccA	p.P357P		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	357					ATP-dependent chromatin remodeling (GO:0043044)|cellular protein complex assembly (GO:0043623)|maternal behavior (GO:0042711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|histone deacetylase complex (GO:0000118)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|mRNA binding (GO:0003729)|protein domain specific binding (GO:0019904)|satellite DNA binding (GO:0003696)|siRNA binding (GO:0035197)			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)		CTTTGCAGAGGGGTTGAGATG	0.438																																						ENST00000256429.3																			0				breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(1069-1071)ccC>ccA		methyl-CpG binding domain protein 2	Hexobarbital(DB01355)						138.0	130.0	133.0					18																	51690931		2203	4300	6503	SO:0001819	synonymous_variant	8932				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding	g.chr18:51690931G>T	AF072242	CCDS11953.1, CCDS45871.1	18q21	2008-08-01			ENSG00000134046	ENSG00000134046			6917	protein-coding gene	gene with protein product		603547				9774669, 10441743	Standard	NM_003927		Approved		uc002lfg.2	Q9UBB5	OTTHUMG00000132705	ENST00000256429.3:c.1071C>A	18.37:g.51690931G>T							p.P357P	NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN		Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	5	1299	-			357					O95242|Q9UIS8	Silent	SNP	ENST00000256429.3	37	c.1071C>A	CCDS11953.1																																																																																				0.438	MBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256003.2	NM_003927		7	165	7	165	---	---	---	---
MC4R	4160	broad.mit.edu	37	18	58038857	58038857	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:58038857C>A	ENST00000299766.3	-	1	1144	c.726G>T	c.(724-726)aaG>aaT	p.K242N		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	242					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TAATCGCTCCCTTCATATTGG	0.502																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(724-726)aaG>aaT		melanocortin 4 receptor							80.0	73.0	76.0					18																	58038857		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038857C>A	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.726G>T	18.37:g.58038857C>A	ENSP00000299766:p.Lys242Asn						p.K242N	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	1144	-		Colorectal(73;0.0946)	242					B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.726G>T	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455800	0.43634	.	.	ENSG00000166603	ENST00000299766	T	0.42900	0.96	5.85	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	H	0.94620	3.56	0.58432	D	0.999992	D	0.76494	0.999	D	0.76071	0.987	T	0.73421	-0.3988	10	0.87932	D	0	.	8.1537	0.31156	0.0:0.7575:0.0:0.2425	.	242	P32245	MC4R_HUMAN	N	242	ENSP00000299766:K242N	ENSP00000299766:K242N	K	-	3	2	MC4R	56189837	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	2.015000	0.40961	0.831000	0.34780	-0.150000	0.13652	AAG		0.502	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		6	106	6	106	---	---	---	---
SERPINB12	89777	broad.mit.edu	37	18	61223488	61223488	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:61223488C>A	ENST00000269491.1	+	1	96	c.96C>A	c.(94-96)ccC>ccA	p.P32P	SERPINB12_ENST00000382768.1_Silent_p.P32P	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	32					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTTCTCTCCCCTGAGCCTCT	0.438																																						ENST00000382768.1																			0				kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						c.(94-96)ccC>ccA		serpin peptidase inhibitor, clade B (ovalbumin), member 12							226.0	214.0	218.0					18																	61223488		2203	4300	6503	SO:0001819	synonymous_variant	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61223488C>A	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.96C>A	18.37:g.61223488C>A						SERPINB12_ENST00000269491.1_Silent_p.P32P	p.P32P			Q96P63	SPB12_HUMAN			1	96	+			32					Q3SYB4	Silent	SNP	ENST00000269491.1	37	c.96C>A	CCDS11984.1																																																																																				0.438	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		8	470	8	470	---	---	---	---
ADNP2	22850	broad.mit.edu	37	18	77894468	77894468	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:77894468C>A	ENST00000262198.4	+	4	1627	c.1172C>A	c.(1171-1173)cCc>cAc	p.P391H		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	391	Pro-rich.				cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|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(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AGTGTCCTCCCCATAAATCAG	0.542																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(1171-1173)cCc>cAc		ADNP homeobox 2							89.0	87.0	87.0					18																	77894468		2203	4300	6503	SO:0001583	missense	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77894468C>A	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1172C>A	18.37:g.77894468C>A	ENSP00000262198:p.Pro391His						p.P391H	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	1627	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	391			Pro-rich.		A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	c.1172C>A	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369712	0.42003	.	.	ENSG00000101544	ENST00000262198	.	.	.	4.78	4.78	0.61160	.	0.000000	0.56097	D	0.000035	T	0.63838	0.2545	L	0.27053	0.805	0.39469	D	0.967697	D	0.89917	1.0	D	0.76575	0.988	T	0.63225	-0.6685	8	.	.	.	-17.8511	16.1789	0.81887	0.0:1.0:0.0:0.0	.	391	Q6IQ32	ADNP2_HUMAN	H	391	.	.	P	+	2	0	ADNP2	75995459	0.648000	0.27313	0.821000	0.32701	0.683000	0.39861	2.697000	0.47060	2.475000	0.83589	0.650000	0.86243	CCC		0.542	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		6	206	6	206	---	---	---	---
CDC34	997	broad.mit.edu	37	19	537038	537038	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:537038C>A	ENST00000215574.4	+	4	606	c.388C>A	c.(388-390)Ctc>Atc	p.L130I		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	130					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGATCTCCCTCCTGAACGA	0.627																																						ENST00000215574.4																			0				large_intestine(1)|lung(1)	2						c.(388-390)Ctc>Atc		cell division cycle 34							136.0	105.0	115.0					19																	537038		2203	4300	6503	SO:0001583	missense	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:537038C>A	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.388C>A	19.37:g.537038C>A	ENSP00000215574:p.Leu130Ile						p.L130I	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	606	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	130					A8K689	Missense_Mutation	SNP	ENST00000215574.4	37	c.388C>A	CCDS12030.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.301603	0.60195	.	.	ENSG00000099804	ENST00000215574	T	0.58210	0.35	5.15	5.15	0.70609	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000001	T	0.75510	0.3859	M	0.86343	2.81	0.80722	D	1	P	0.50443	0.935	D	0.65323	0.934	T	0.78201	-0.2296	10	0.46703	T	0.11	-5.8793	17.6379	0.88128	0.0:1.0:0.0:0.0	.	130	P49427	UB2R1_HUMAN	I	130	ENSP00000215574:L130I	ENSP00000215574:L130I	L	+	1	0	CDC34	488038	0.995000	0.38212	0.769000	0.31535	0.012000	0.07955	3.222000	0.51223	2.395000	0.81488	0.591000	0.81541	CTC		0.627	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		4	91	4	91	---	---	---	---
TICAM1	148022	broad.mit.edu	37	19	4816548	4816548	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:4816548G>T	ENST00000248244.5	-	2	2071	c.1842C>A	c.(1840-1842)ccC>ccA	p.P614P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	614	Pro-rich.|Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGGCTCCCAGGGGCACCTGGC	0.701																																						ENST00000248244.5																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26						c.(1840-1842)ccC>ccA		toll-like receptor adaptor molecule 1							20.0	22.0	21.0					19																	4816548		2203	4299	6502	SO:0001819	synonymous_variant	148022				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB 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	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity	g.chr19:4816548G>T	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1842C>A	19.37:g.4816548G>T							p.P614P	NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	2	2071	-			614			Pro-rich.|Sufficient to induce apoptosis.		B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	ENST00000248244.5	37	c.1842C>A	CCDS12136.1																																																																																				0.701	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261		4	34	4	34	---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5218485	5218485	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:5218485G>T	ENST00000587303.1	-	24	4093	c.3994C>A	c.(3994-3996)Cct>Act	p.P1332T	PTPRS_ENST00000262963.6_Missense_Mutation_p.P1328T|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1310T|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1310T|PTPRS_ENST00000592099.1_Missense_Mutation_p.P901T|PTPRS_ENST00000372412.4_Missense_Mutation_p.P1333T|PTPRS_ENST00000353284.2_Missense_Mutation_p.P901T|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1332T|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1332					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGGTGGTGAGGGGCGAGGTCG	0.537																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(3997-3999)Cct>Act		protein tyrosine phosphatase, receptor type, S							236.0	213.0	220.0					19																	5218485		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5218485G>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.3994C>A	19.37:g.5218485G>T	ENSP00000467537:p.Pro1332Thr					PTPRS_ENST00000348075.2_Missense_Mutation_p.P1310T|PTPRS_ENST00000587303.1_Missense_Mutation_p.P1332T|PTPRS_ENST00000353284.2_Missense_Mutation_p.P901T|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1332T|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1328T|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.P901T|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1310T	p.P1333T			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	25	4230	-			1332					O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.3997C>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088566	0.36855	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.54071	0.81;0.8;0.71;0.59;0.67	4.3	4.3	0.51218	.	0.337088	0.23192	U	0.050884	T	0.64193	0.2576	L	0.41236	1.265	0.80722	D	1	P;B;D;B;D;D	0.89917	0.553;0.214;0.999;0.01;0.984;1.0	B;B;D;B;P;D	0.91635	0.373;0.138;0.982;0.022;0.77;0.999	T	0.62129	-0.6919	10	0.33940	T	0.23	.	16.9445	0.86227	0.0:0.0:1.0:0.0	.	914;901;905;1310;1332;927	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	T	927;1333;1332;1332;1323;1328;1310;914;905;901	ENSP00000361489:P1333T;ENSP00000349932:P1332T;ENSP00000262963:P1328T;ENSP00000269907:P1310T;ENSP00000327313:P901T	ENSP00000262963:P1328T	P	-	1	0	PTPRS	5169485	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	7.264000	0.78432	2.232000	0.73038	0.561000	0.74099	CCT		0.537	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			8	493	8	493	---	---	---	---
ZNF358	140467	broad.mit.edu	37	19	7584157	7584157	+	Missense_Mutation	SNP	C	C	A	rs372789030		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:7584157C>A	ENST00000597229.1	+	2	199	c.29C>A	c.(28-30)cCa>cAa	p.P10Q	CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.P10Q|CTD-2207O23.12_ENST00000599312.1_Missense_Mutation_p.Q43K	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	10					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GTCAGGAACCCAGGCCACAAA	0.582																																						ENST00000597229.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(28-30)cCa>cAa		zinc finger protein 358		C	GLN/PRO	1,4305		0,1,2152	63.0	71.0	68.0		29	3.7	1.0	19		68	0,8536		0,0,4268	no	missense	ZNF358	NM_018083.4	76	0,1,6420	AA,AC,CC		0.0,0.0232,0.0078	probably-damaging	10/569	7584157	1,12841	2153	4268	6421	SO:0001583	missense	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7584157C>A	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.29C>A	19.37:g.7584157C>A	ENSP00000472305:p.Pro10Gln					ZNF358_ENST00000394341.2_Missense_Mutation_p.P10Q|CTD-2207O23.12_ENST00000599312.1_Missense_Mutation_p.Q43K	p.P10Q	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN			2	199	+			10					Q9BTM7	Missense_Mutation	SNP	ENST00000597229.1	37	c.29C>A	CCDS32890.2	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708548	0.68615	2.32E-4	0.0	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.09817	2.94	4.73	3.7	0.42460	.	.	.	.	.	T	0.11153	0.0272	N	0.08118	0	0.27256	N	0.958762	D	0.65815	0.995	P	0.60886	0.88	T	0.14811	-1.0459	9	0.52906	T	0.07	-5.8584	5.9813	0.19409	0.0:0.7026:0.1959:0.1014	.	10	Q9NW07	ZN358_HUMAN	Q	10	ENSP00000377873:P10Q	ENSP00000354703:P10Q	P	+	2	0	ZNF358	7490157	0.000000	0.05858	0.993000	0.49108	0.901000	0.52897	0.091000	0.15046	2.578000	0.87016	0.558000	0.71614	CCA		0.582	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1			5	168	5	168	---	---	---	---
SNAPC2	6618	broad.mit.edu	37	19	7987016	7987016	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:7987016C>A	ENST00000221573.6	+	4	520	c.469C>A	c.(469-471)Cct>Act	p.P157T	CTD-3193O13.1_ENST00000564226.1_RNA|SNAPC2_ENST00000597584.1_De_novo_Start_OutOfFrame|SNAPC2_ENST00000595035.1_3'UTR	NM_003083.3	NP_003074.1	Q13487	SNPC2_HUMAN	small nuclear RNA activating complex, polypeptide 2, 45kDa	157					gene expression (GO:0010467)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTGAGCGCCCCTGGAGGACA	0.662																																						ENST00000597584.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6								small nuclear RNA activating complex, polypeptide 2, 45kDa							87.0	95.0	92.0					19																	7987016		2203	4300	6503	SO:0001583	missense	6618				snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity	g.chr19:7987016C>A	U44898	CCDS12190.1	19p13	2008-07-22	2002-08-29			ENSG00000104976			11135	protein-coding gene	gene with protein product		605076	"""small nuclear RNA activating complex, polypeptide 2, 45kD"""			8633057	Standard	NM_003083		Approved	SNAP45, PTFdelta	uc002miw.2	Q13487		ENST00000221573.6:c.469C>A	19.37:g.7987016C>A	ENSP00000221573:p.Pro157Thr					SNAPC2_ENST00000221573.6_Missense_Mutation_p.P157T|SNAPC2_ENST00000595035.1_3'UTR				Q13487	SNPC2_HUMAN			0	391	+								B2RBZ6|D6W663|Q13486	Translation_Start_Site	SNP	ENST00000221573.6	37		CCDS12190.1	.	.	.	.	.	.	.	.	.	.	c	11.15	1.552869	0.27739	.	.	ENSG00000104976	ENST00000221573	T	0.46451	0.87	4.33	-2.25	0.06888	.	0.721951	0.11700	N	0.538109	T	0.32704	0.0838	M	0.62723	1.935	0.09310	N	1	B	0.21071	0.051	B	0.20577	0.03	T	0.37478	-0.9704	10	0.54805	T	0.06	-0.0504	2.7295	0.05223	0.321:0.3482:0.0:0.3307	.	157	Q13487	SNPC2_HUMAN	T	157	ENSP00000221573:P157T	ENSP00000221573:P157T	P	+	1	0	SNAPC2	7893016	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.374000	0.07484	-0.135000	0.11495	0.550000	0.68814	CCT		0.662	SNAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461358.1	NM_003083		6	190	6	190	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8152723	8152723	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:8152723C>A	ENST00000600128.1	-	53	7019	c.6605G>T	c.(6604-6606)gGg>gTg	p.G2202V	FBN3_ENST00000270509.2_Missense_Mutation_p.G2202V|FBN3_ENST00000601739.1_Missense_Mutation_p.G2202V			Q75N90	FBN3_HUMAN	fibrillin 3	2202	EGF-like 35; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						aCACATGGCCCCATCCTCCCG	0.562																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(6604-6606)gGg>gTg		fibrillin 3							104.0	105.0	105.0					19																	8152723		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8152723C>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.6605G>T	19.37:g.8152723C>A	ENSP00000470498:p.Gly2202Val					FBN3_ENST00000270509.2_Missense_Mutation_p.G2202V|FBN3_ENST00000601739.1_Missense_Mutation_p.G2202V	p.G2202V			Q75N90	FBN3_HUMAN			53	7019	-			2202			EGF-like 35; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.6605G>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406088	0.42715	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	D	0.89617	-2.54	4.52	4.52	0.55395	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.501056	0.19099	U	0.122756	D	0.95853	0.8650	H	0.95365	3.66	0.47737	D	0.999509	D;D	0.71674	0.996;0.998	D;D	0.64595	0.926;0.927	D	0.96129	0.9091	10	0.39692	T	0.17	.	17.6164	0.88068	0.0:1.0:0.0:0.0	.	2202;308	Q75N90;Q6ZNB8	FBN3_HUMAN;.	V	2202;308	ENSP00000270509:G2202V	ENSP00000270509:G2202V	G	-	2	0	FBN3	8058723	0.001000	0.12720	0.820000	0.32676	0.447000	0.32167	1.277000	0.33167	2.231000	0.72958	0.313000	0.20887	GGG		0.562	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		5	168	5	168	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8959691	8959691	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:8959691G>A	ENST00000397910.4	-	84	43644	c.43441C>T	c.(43441-43443)Cgg>Tgg	p.R14481W	MUC16_ENST00000380951.5_Missense_Mutation_p.R1122W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22126	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R14481W(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTTCTTCCGCCGGCGGGTG	0.582																																						ENST00000397910.4																			1	Substitution - Missense(1)	p.R14481W(1)	prostate(1)	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(43441-43443)Cgg>Tgg		mucin 16, cell surface associated							77.0	78.0	78.0					19																	8959691		1985	4182	6167	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8959691G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43441C>T	19.37:g.8959691G>A	ENSP00000381008:p.Arg14481Trp					MUC16_ENST00000380951.5_Missense_Mutation_p.R1122W	p.R14481W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			84	43644	-			22126	Missing (in Ref. 3; AAK74120).		SEA 16.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.43441C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.454936	0.43634	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T	0.02656	4.21	3.47	1.18	0.20946	.	.	.	.	.	T	0.08044	0.0201	L	0.43701	1.375	.	.	.	D;D	0.89917	1.0;1.0	P;D	0.73708	0.867;0.981	T	0.17684	-1.0361	8	0.87932	D	0	.	7.9759	0.30155	0.0:0.0:0.5341:0.4659	.	22126;14481	Q8WXI7;B5ME49	MUC16_HUMAN;.	W	14481;1122	ENSP00000381008:R14481W	ENSP00000370338:R1122W	R	-	1	2	MUC16	8820691	0.056000	0.20664	0.012000	0.15200	0.005000	0.04900	0.610000	0.24253	0.400000	0.25396	-0.500000	0.04577	CGG		0.582	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	17	8	17	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9065764	9065764	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:9065764G>T	ENST00000397910.4	-	3	21885	c.21682C>A	c.(21682-21684)Cct>Act	p.P7228T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7230	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAAGTGAGGGGTTGATATG	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(21682-21684)Cct>Act		mucin 16, cell surface associated							216.0	202.0	207.0					19																	9065764		2000	4169	6169	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065764G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21682C>A	19.37:g.9065764G>T	ENSP00000381008:p.Pro7228Thr						p.P7228T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	21885	-			7230			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21682C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.021	0.001423	0.07819	.	.	ENSG00000181143	ENST00000397910	T	0.30981	1.51	2.8	-2.5	0.06384	.	.	.	.	.	T	0.24470	0.0593	L	0.31926	0.97	.	.	.	P	0.44659	0.84	P	0.47941	0.562	T	0.28681	-1.0036	8	0.87932	D	0	.	3.478	0.07591	0.3885:0.199:0.4125:0.0	.	7228	B5ME49	.	T	7228	ENSP00000381008:P7228T	ENSP00000381008:P7228T	P	-	1	0	MUC16	8926764	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.687000	0.00833	-0.354000	0.08212	0.195000	0.17529	CCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		7	369	7	369	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9071802	9071802	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:9071802G>T	ENST00000397910.4	-	3	15847	c.15644C>A	c.(15643-15645)cCc>cAc	p.P5215H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5217	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTACCAGTGGGGACTTTGGA	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(15643-15645)cCc>cAc		mucin 16, cell surface associated							164.0	157.0	159.0					19																	9071802		1918	4124	6042	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071802G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15644C>A	19.37:g.9071802G>T	ENSP00000381008:p.Pro5215His						p.P5215H	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	15847	-			5217			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.15644C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.271	-0.149078	0.06585	.	.	ENSG00000181143	ENST00000397910	T	0.03301	3.98	1.66	1.66	0.24008	.	.	.	.	.	T	0.05456	0.0144	L	0.48642	1.525	.	.	.	D	0.53462	0.96	P	0.46758	0.526	T	0.23404	-1.0189	8	0.87932	D	0	.	6.825	0.23878	0.0:0.0:1.0:0.0	.	5215	B5ME49	.	H	5215	ENSP00000381008:P5215H	ENSP00000381008:P5215H	P	-	2	0	MUC16	8932802	0.000000	0.05858	0.012000	0.15200	0.026000	0.11368	0.285000	0.18883	1.237000	0.43756	0.449000	0.29647	CCC		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		6	318	6	318	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10260302	10260302	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10260302C>A	ENST00000340748.4	-	25	2600	c.2365G>T	c.(2365-2367)Ggg>Tgg	p.G789W	DNMT1_ENST00000540357.1_Missense_Mutation_p.G789W|DNMT1_ENST00000359526.4_Missense_Mutation_p.G805W			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	789	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	AACATCTGCCCGTTGCTGCTG	0.582																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(2365-2367)Ggg>Tgg		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						128.0	132.0	130.0					19																	10260302		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10260302C>A	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2365G>T	19.37:g.10260302C>A	ENSP00000345739:p.Gly789Trp					DNMT1_ENST00000540357.1_Missense_Mutation_p.G789W|DNMT1_ENST00000359526.4_Missense_Mutation_p.G805W	p.G789W			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		25	2600	-			789			BAH 1.		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.2365G>T	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276915	0.80580	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.86297	-2.1;-2.1;-2.1	5.82	4.79	0.61399	Bromo adjacent homology (BAH) domain (3);	0.230104	0.43110	D	0.000607	D	0.93400	0.7895	M	0.82630	2.6	0.46241	D	0.998946	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.94044	0.7312	10	0.66056	D	0.02	.	13.9099	0.63860	0.0:0.926:0.0:0.074	.	789;805;789	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	W	805;789;789;657	ENSP00000352516:G805W;ENSP00000440457:G789W;ENSP00000345739:G789W	ENSP00000345739:G789W	G	-	1	0	DNMT1	10121302	0.992000	0.36948	0.486000	0.27416	0.787000	0.44495	5.747000	0.68689	1.474000	0.48178	0.655000	0.94253	GGG		0.582	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		6	306	6	306	---	---	---	---
ZGLP1	100125288	broad.mit.edu	37	19	10418870	10418870	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10418870G>T	ENST00000403903.3	-	1	1686	c.488C>A	c.(487-489)cCc>cAc	p.P163H	FDX1L_ENST00000541276.1_3'UTR|ZGLP1_ENST00000403352.1_Missense_Mutation_p.P79H|FDX1L_ENST00000492239.1_5'Flank|CTD-2369P2.10_ENST00000452032.2_3'UTR	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	163					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						CCTGTACGTGGGGATGATCTG	0.632																																						ENST00000403903.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						c.(487-489)cCc>cAc		zinc finger, GATA-like protein 1							47.0	52.0	50.0					19																	10418870		1959	4144	6103	SO:0001583	missense	100125288				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:10418870G>T	AK096830	CCDS45959.1	19p13.2	2013-01-25			ENSG00000220201	ENSG00000220201		"""GATA zinc finger domain containing"""	37245	protein-coding gene	gene with protein product	"""GATA like protein 1"", ""GATA zinc finger domain containing 3"""	611639				16982049	Standard	NM_001103167		Approved	GLP1, GLP-1, GATAD3	uc002mnw.4	P0C6A0	OTTHUMG00000152114	ENST00000403903.3:c.488C>A	19.37:g.10418870G>T	ENSP00000384434:p.Pro163His					ZGLP1_ENST00000403352.1_Missense_Mutation_p.P79H|FDX1L_ENST00000541276.1_3'UTR|CTD-2369P2.10_ENST00000452032.2_3'UTR	p.P163H	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN			1	1686	-			163						Missense_Mutation	SNP	ENST00000403903.3	37	c.488C>A	CCDS45959.1	.	.	.	.	.	.	.	.	.	.	G	8.207	0.799518	0.16397	.	.	ENSG00000220201	ENST00000403903;ENST00000403352	D;D	0.98437	-4.93;-4.92	4.78	3.72	0.42706	.	.	.	.	.	D	0.94981	0.8376	L	0.29908	0.895	0.80722	D	1	B	0.22414	0.069	B	0.19946	0.027	D	0.92223	0.5786	9	0.39692	T	0.17	-7.6993	10.3914	0.44171	0.0:0.0:0.7909:0.2091	.	163	P0C6A0	ZGLP1_HUMAN	H	163;79	ENSP00000384434:P163H;ENSP00000385403:P79H	ENSP00000385403:P79H	P	-	2	0	ZGLP1	10279870	1.000000	0.71417	0.882000	0.34594	0.192000	0.23643	2.200000	0.42724	1.099000	0.41499	0.561000	0.74099	CCC		0.632	ZGLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325278.1	NM_001103167		5	168	5	168	---	---	---	---
ILF3	3609	broad.mit.edu	37	19	10799884	10799884	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10799884C>A	ENST00000590261.1	+	19	2581	c.2581C>A	c.(2581-2583)Ccg>Acg	p.P861T	ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000588657.1_Missense_Mutation_p.P865T|ILF3_ENST00000449870.1_Missense_Mutation_p.P865T|ILF3_ENST00000318511.3_Missense_Mutation_p.P861T			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	861	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CTACAACTCCCCGGGGTCCGG	0.612																																						ENST00000449870.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2593-2595)Ccg>Acg		interleukin enhancer binding factor 3, 90kDa							130.0	140.0	137.0					19																	10799884		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10799884C>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2581C>A	19.37:g.10799884C>A	ENSP00000468156:p.Pro861Thr					ILF3_ENST00000586544.1_3'UTR|ILF3_ENST00000590261.1_Missense_Mutation_p.P861T|ILF3_ENST00000588657.1_Missense_Mutation_p.P865T|ILF3_ENST00000318511.3_Missense_Mutation_p.P861T	p.P865T	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		20	2910	+			861			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2593C>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369090	0.61624	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.14391	2.51;2.51	5.32	5.32	0.75619	.	0.188319	0.46442	D	0.000289	T	0.15305	0.0369	N	0.14661	0.345	0.80722	D	1	P;P	0.50819	0.939;0.9	P;B	0.49708	0.62;0.415	T	0.02464	-1.1155	10	0.72032	D	0.01	.	17.9328	0.89004	0.0:1.0:0.0:0.0	.	865;861	G5E9M5;Q12906	.;ILF3_HUMAN	T	865;861	ENSP00000404121:P865T;ENSP00000315205:P861T	ENSP00000315205:P861T	P	+	1	0	ILF3	10660884	1.000000	0.71417	0.984000	0.44739	0.906000	0.53458	6.495000	0.73665	2.767000	0.95098	0.655000	0.94253	CCG		0.612	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			7	272	7	272	---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10935779	10935779	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:10935779C>A	ENST00000355667.6	+	18	2020	c.1940C>A	c.(1939-1941)cCc>cAc	p.P647H	DNM2_ENST00000389253.4_Missense_Mutation_p.P647H|DNM2_ENST00000359692.6_Missense_Mutation_p.P643H|DNM2_ENST00000408974.4_Missense_Mutation_p.P643H|DNM2_ENST00000585892.1_Missense_Mutation_p.P647H|DNM2_ENST00000314646.5_Missense_Mutation_p.P647H	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	647					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCCATGGACCCCCAACTGGAG	0.602			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1939-1941)cCc>cAc		dynamin 2							105.0	96.0	99.0					19																	10935779		2203	4300	6503	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10935779C>A		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1940C>A	19.37:g.10935779C>A	ENSP00000347890:p.Pro647His					DNM2_ENST00000585892.1_Missense_Mutation_p.P647H|DNM2_ENST00000359692.6_Missense_Mutation_p.P643H|DNM2_ENST00000408974.4_Missense_Mutation_p.P643H|DNM2_ENST00000389253.4_Missense_Mutation_p.P647H|DNM2_ENST00000355667.6_Missense_Mutation_p.P647H	p.P647H			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		18	2104	+			647					A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1940C>A	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059421	0.76074	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	D;D;D	0.94184	-3.37;-3.35;-3.35	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.97430	0.9159	M	0.91717	3.235	0.80722	D	1	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	0.85130	0.993;0.997;0.995;0.992;0.99;0.992;0.942	D	0.98319	1.0527	10	0.87932	D	0	-0.9157	17.6598	0.88189	0.0:1.0:0.0:0.0	.	241;647;376;643;643;647;647	Q8N1K8;F5H4R9;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;.;DYN2_HUMAN;.	H	643;643;647;647;647;254	ENSP00000386192:P643H;ENSP00000373905:P647H;ENSP00000313164:P647H	ENSP00000313164:P647H	P	+	2	0	DNM2	10796779	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	7.708000	0.84633	2.467000	0.83353	0.563000	0.77884	CCC		0.602	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		5	108	5	108	---	---	---	---
ZNF763	284390	broad.mit.edu	37	19	12088995	12088995	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:12088995C>A	ENST00000358987.3	+	4	383	c.256C>A	c.(256-258)Cag>Aag	p.Q86K	ZNF763_ENST00000590798.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000591944.1_3'UTR|ZNF763_ENST00000545530.1_5'UTR|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000343949.5_Missense_Mutation_p.Q89K|ZNF763_ENST00000592625.1_3'UTR			Q0D2J5	ZN763_HUMAN	zinc finger protein 763	86	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						AACTTTTACCCAGGTTCCAGA	0.398																																						ENST00000343949.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						c.(265-267)Cag>Aag		zinc finger protein 763							108.0	114.0	112.0					19																	12088995		2202	4298	6500	SO:0001583	missense	284390							g.chr19:12088995C>A	AK092240	CCDS45982.1	19p13.2	2014-02-12	2006-08-14		ENSG00000197054	ENSG00000197054		"""Zinc fingers, C2H2-type"", ""-"""	27614	protein-coding gene	gene with protein product							Standard	NM_001012753		Approved	ZNF440L		Q0D2J5	OTTHUMG00000156430	ENST00000358987.3:c.256C>A	19.37:g.12088995C>A	ENSP00000402017:p.Gln86Lys					ZNF763_ENST00000545530.1_5'UTR|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000590798.1_Missense_Mutation_p.Q106K|ZNF763_ENST00000358987.3_Missense_Mutation_p.Q86K|ZNF763_ENST00000591944.1_3'UTR	p.Q89K	NM_001012753.1	NP_001012771.1					4	420	+								B3KRU3|B4DRE7	Missense_Mutation	SNP	ENST00000358987.3	37	c.265C>A		.	.	.	.	.	.	.	.	.	.	c	7.618	0.676312	0.14841	.	.	ENSG00000197054	ENST00000538752;ENST00000343949;ENST00000358987	T;T;T	0.05382	3.47;3.46;3.45	0.864	-0.271	0.12922	Krueppel-associated box (1);	.	.	.	.	T	0.03827	0.0108	N	0.25201	0.72	0.09310	N	0.999999	B;B;B	0.29590	0.027;0.004;0.25	B;B;B	0.24155	0.051;0.01;0.026	T	0.42515	-0.9447	9	0.37606	T	0.19	.	4.9351	0.13937	0.0:0.7456:0.0:0.2544	.	106;86;89	F5H0A9;Q0D2J5;Q0D2J5-2	.;ZN763_HUMAN;.	K	106;89;86	ENSP00000438117:Q106K;ENSP00000369774:Q89K;ENSP00000402017:Q86K	ENSP00000369774:Q89K	Q	+	1	0	ZNF763	11949995	0.000000	0.05858	0.001000	0.08648	0.130000	0.20726	0.047000	0.14056	-0.082000	0.12640	0.195000	0.17529	CAG		0.398	ZNF763-002	KNOWN	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000344158.1	NM_001012753		6	277	6	277	---	---	---	---
OR7A5	26659	broad.mit.edu	37	19	14938133	14938133	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:14938133C>A	ENST00000322301.3	-	2	1008	c.921G>T	c.(919-921)tgG>tgT	p.W307C	OR7A5_ENST00000594432.1_Missense_Mutation_p.W307C|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	307					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCATTGTTCCCCACAACAAAT	0.433																																						ENST00000322301.3																			0				breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(919-921)tgG>tgT		olfactory receptor, family 7, subfamily A, member 5							91.0	88.0	89.0					19																	14938133		2203	4300	6503	SO:0001583	missense	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938133C>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.921G>T	19.37:g.14938133C>A	ENSP00000316955:p.Trp307Cys					OR7A5_ENST00000594432.1_Missense_Mutation_p.W307C|OR7A5_ENST00000601611.1_Intron	p.W307C			Q15622	OR7A5_HUMAN			2	1008	-			307					B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	ENST00000322301.3	37	c.921G>T	CCDS12318.1	.	.	.	.	.	.	.	.	.	.	c	0.685	-0.796845	0.02862	.	.	ENSG00000188269	ENST00000322301	T	0.32023	1.47	0.328	0.328	0.15918	.	.	.	.	.	T	0.13586	0.0329	N	0.04787	-0.16	0.09310	N	1	B	0.25235	0.121	B	0.21917	0.037	T	0.23619	-1.0183	8	0.45353	T	0.12	.	.	.	.	.	307	Q15622	OR7A5_HUMAN	C	307	ENSP00000316955:W307C	ENSP00000316955:W307C	W	-	3	0	OR7A5	14799133	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-0.264000	0.08658	0.445000	0.26639	0.121000	0.15741	TGG		0.433	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		6	230	6	230	---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16973789	16973789	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:16973789G>T	ENST00000379803.1	+	10	1375	c.1361G>T	c.(1360-1362)gGg>gTg	p.G454V	SIN3B_ENST00000595541.1_5'Flank|SIN3B_ENST00000248054.5_Intron	NM_015260.2	NP_056075.1			SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						TATAGTGcaggggtcagcaaa	0.493																																						ENST00000379803.1																			0				endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1360-1362)gGg>gTg		SIN3 transcription regulator family member B							115.0	108.0	110.0					19																	16973789		2203	4300	6503	SO:0001630	splice_region_variant	23309				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	g.chr19:16973789G>T	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000379803.1:c.1362+1G>T	19.37:g.16973789G>T						SIN3B_ENST00000248054.5_Intron	p.G454V	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN			10	1375	+			454			Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).			Splice_Site	SNP	ENST00000379803.1	37	c.1361G>T	CCDS32946.1	.	.	.	.	.	.	.	.	.	.	G	5.140	0.211466	0.09757	.	.	ENSG00000127511	ENST00000379803	T	0.42513	0.97	1.5	0.456	0.16655	Histone deacetylase interacting (2);	.	.	.	.	T	0.25419	0.0618	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.18263	0.021	T	0.25363	-1.0134	9	0.72032	D	0.01	.	3.7748	0.08656	0.2374:0.0:0.7626:0.0	.	454	O75182	SIN3B_HUMAN	V	454	ENSP00000369131:G454V	ENSP00000369131:G454V	G	+	2	0	SIN3B	16834789	0.001000	0.12720	0.001000	0.08648	0.042000	0.13812	0.166000	0.16583	0.226000	0.20979	0.561000	0.74099	GGG		0.493	SIN3B-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462848.1	NM_015260	Missense_Mutation	8	290	8	290	---	---	---	---
ANKLE1	126549	broad.mit.edu	37	19	17394162	17394162	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:17394162C>A	ENST00000394458.3	+	5	865	c.589C>A	c.(589-591)Ctt>Att	p.L197I	ANKLE1_ENST00000594072.1_Missense_Mutation_p.L186I|ANKLE1_ENST00000433424.2_Missense_Mutation_p.L251I|ANKLE1_ENST00000598347.1_Missense_Mutation_p.L197I|ANKLE1_ENST00000404085.1_Missense_Mutation_p.L219I	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	197										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CCCTGTTCCCCTTGAAACTGT	0.597																																						ENST00000394458.3																			0				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						c.(589-591)Ctt>Att		ankyrin repeat and LEM domain containing 1							74.0	85.0	82.0					19																	17394162		2202	4299	6501	SO:0001583	missense	126549					nuclear envelope		g.chr19:17394162C>A	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.589C>A	19.37:g.17394162C>A	ENSP00000377971:p.Leu197Ile					ANKLE1_ENST00000598347.1_Missense_Mutation_p.L197I|ANKLE1_ENST00000433424.2_Missense_Mutation_p.L251I|ANKLE1_ENST00000594072.1_Missense_Mutation_p.L186I|ANKLE1_ENST00000404085.1_Missense_Mutation_p.L219I	p.L197I	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN			5	865	+			197					A8VU82|Q8N8J8	Missense_Mutation	SNP	ENST00000394458.3	37	c.589C>A	CCDS12354.2	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191864	0.38707	.	.	ENSG00000160117	ENST00000404261;ENST00000433424;ENST00000404085;ENST00000394458;ENST00000438921	T;T;T	0.74947	-0.79;-0.89;-0.8	4.1	1.72	0.24424	.	2.613880	0.01765	N	0.030787	T	0.57213	0.2038	N	0.14661	0.345	0.09310	N	1	P;P;P;B	0.41673	0.69;0.617;0.759;0.213	B;B;B;B	0.39590	0.164;0.121;0.304;0.067	T	0.54118	-0.8341	10	0.17369	T	0.5	-37.2683	5.2815	0.15678	0.0:0.6735:0.2087:0.1178	.	197;183;197;186	E7ETZ9;Q8NAG6-1;Q8NAG6;A0JLW0	.;.;ANKL1_HUMAN;.	I	197;251;219;186;197	ENSP00000384753:L197I;ENSP00000394460:L251I;ENSP00000384008:L219I	ENSP00000377971:L186I	L	+	1	0	ANKLE1	17255162	0.000000	0.05858	0.001000	0.08648	0.825000	0.46686	0.504000	0.22626	0.838000	0.34948	0.313000	0.20887	CTT		0.597	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		5	214	5	214	---	---	---	---
FAM129C	199786	broad.mit.edu	37	19	17648257	17648257	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:17648257C>A	ENST00000335393.4	+	6	731	c.593C>A	c.(592-594)cCc>cAc	p.P198H	FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000599124.1_Missense_Mutation_p.P167H|FAM129C_ENST00000599164.1_Missense_Mutation_p.P167H|FAM129C_ENST00000601861.1_Missense_Mutation_p.P167H|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000595684.1_Missense_Mutation_p.P198H|FAM129C_ENST00000600871.1_Missense_Mutation_p.P144H|FAM129C_ENST00000332386.5_Missense_Mutation_p.P198H|FAM129C_ENST00000300971.2_Missense_Mutation_p.P198H|FAM129C_ENST00000352727.3_Missense_Mutation_p.P198H	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	198										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTGCAGCACCCCTTCCGCCGG	0.617																																						ENST00000335393.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(592-594)cCc>cAc		family with sequence similarity 129, member C							99.0	93.0	95.0					19																	17648257		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17648257C>A	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.593C>A	19.37:g.17648257C>A	ENSP00000335040:p.Pro198His					FAM129C_ENST00000599124.1_Missense_Mutation_p.P167H|FAM129C_ENST00000332386.5_Missense_Mutation_p.P198H|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599164.1_Missense_Mutation_p.P167H|FAM129C_ENST00000352727.3_Missense_Mutation_p.P198H|FAM129C_ENST00000600871.1_Missense_Mutation_p.P144H|FAM129C_ENST00000300971.2_Missense_Mutation_p.P198H|FAM129C_ENST00000601861.1_Missense_Mutation_p.P167H|FAM129C_ENST00000595684.1_Missense_Mutation_p.P198H	p.P198H	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN			6	731	+			198					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.593C>A	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	c	15.06	2.720007	0.48728	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.42	4.42	0.53409	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.133205	0.34435	N	0.003974	T	0.38931	0.1059	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.65874	0.939;0.939	T	0.31447	-0.9943	10	0.87932	D	0	-24.7074	12.541	0.56169	0.0:1.0:0.0:0.0	.	198;198	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	H	198;198;198;198;144	ENSP00000335040:P198H;ENSP00000333447:P198H;ENSP00000341067:P198H;ENSP00000300971:P198H	ENSP00000300971:P198H	P	+	2	0	FAM129C	17509257	0.996000	0.38824	1.000000	0.80357	0.337000	0.28794	3.873000	0.56093	2.041000	0.60428	0.479000	0.44913	CCC		0.617	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		5	159	5	159	---	---	---	---
JAK3	3718	broad.mit.edu	37	19	17943457	17943457	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:17943457G>T	ENST00000527670.1	-	18	2580	c.2551C>A	c.(2551-2553)Ctg>Atg	p.L851M	JAK3_ENST00000458235.1_Missense_Mutation_p.L851M|JAK3_ENST00000534444.1_Missense_Mutation_p.L851M			P52333	JAK3_HUMAN	Janus kinase 3	851	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	ACGGCCACCAGGGCACCTGTA	0.587		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(2551-2553)Ctg>Atg		Janus kinase 3							81.0	72.0	75.0					19																	17943457		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17943457G>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2551C>A	19.37:g.17943457G>T	ENSP00000432511:p.Leu851Met					JAK3_ENST00000534444.1_Missense_Mutation_p.L851M|JAK3_ENST00000527670.1_Missense_Mutation_p.L851M	p.L851M	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			19	2650	-			851			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2551C>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547911	0.45383	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	D;D;D	0.82803	-1.65;-1.65;-1.65	4.37	4.37	0.52481	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.098049	0.44097	D	0.000496	D	0.82595	0.5071	L	0.33137	0.985	0.58432	D	0.999998	D;D	0.69078	0.997;0.963	D;P	0.69479	0.964;0.711	T	0.77877	-0.2424	10	0.21014	T	0.42	-19.2425	8.3943	0.32548	0.1066:0.0:0.8934:0.0	.	851;851	P52333-2;P52333	.;JAK3_HUMAN	M	851	ENSP00000391676:L851M;ENSP00000432511:L851M;ENSP00000436421:L851M	ENSP00000391676:L851M	L	-	1	2	JAK3	17804457	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	1.755000	0.38379	2.433000	0.82419	0.549000	0.68633	CTG		0.587	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		5	140	5	140	---	---	---	---
SLC25A42	284439	broad.mit.edu	37	19	19218792	19218792	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:19218792G>T	ENST00000318596.7	+	7	738	c.587G>T	c.(586-588)gGg>gTg	p.G196V	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	196					ADP transport (GO:0015866)|AMP transport (GO:0080121)|ATP transport (GO:0015867)|coenzyme A transmembrane transport (GO:0035349)|metabolic process (GO:0008152)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenosine-diphosphatase activity (GO:0043262)|ADP transmembrane transporter activity (GO:0015217)|AMP transmembrane transporter activity (GO:0080122)|ATP transmembrane transporter activity (GO:0005347)|coenzyme A transmembrane transporter activity (GO:0015228)			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			ACCGTGCTGGGGGTCATTCCC	0.547																																						ENST00000318596.7																			0				cervix(1)|large_intestine(2)|lung(3)	6						c.(586-588)gGg>gTg		solute carrier family 25, member 42							104.0	89.0	94.0					19																	19218792		2203	4300	6503	SO:0001583	missense	284439				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:19218792G>T		CCDS32966.1	19p13.11	2013-05-22			ENSG00000181035	ENSG00000181035		"""Solute carriers"""	28380	protein-coding gene	gene with protein product		610823				16949250, 19429682	Standard	NM_178526		Approved	MGC26694	uc002nlf.3	Q86VD7		ENST00000318596.7:c.587G>T	19.37:g.19218792G>T	ENSP00000326693:p.Gly196Val					SLC25A42_ENST00000600275.1_3'UTR	p.G196V	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)		7	738	+			196					D2T2J5|O14553|O43378	Missense_Mutation	SNP	ENST00000318596.7	37	c.587G>T	CCDS32966.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247194	0.59103	.	.	ENSG00000181035	ENST00000318596	T	0.79454	-1.27	5.36	5.36	0.76844	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90765	0.7101	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92669	0.6148	10	0.87932	D	0	-11.7397	18.0599	0.89373	0.0:0.0:1.0:0.0	.	196	Q86VD7	S2542_HUMAN	V	196	ENSP00000326693:G196V	ENSP00000326693:G196V	G	+	2	0	SLC25A42	19079792	1.000000	0.71417	0.981000	0.43875	0.026000	0.11368	8.259000	0.89855	2.497000	0.84241	0.561000	0.74099	GGG		0.547	SLC25A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465931.1	NM_178526		5	155	5	155	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19337519	19337519	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:19337519C>A	ENST00000252575.6	+	7	1396	c.1297C>A	c.(1297-1299)Cct>Act	p.P433T	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	433					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CAGCCCTACCCCTGGGGACCC	0.622																																						ENST00000252575.6																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(1297-1299)Cct>Act		neurocan							35.0	37.0	36.0					19																	19337519		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19337519C>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1297C>A	19.37:g.19337519C>A	ENSP00000252575:p.Pro433Thr						p.P433T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		7	1396	+								Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.1297C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662146	0.47572	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.83914	-1.78	5.07	0.26	0.15588	.	0.607120	0.13829	N	0.359900	T	0.68860	0.3047	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.15052	0.012	T	0.56848	-0.7911	10	0.49607	T	0.09	.	3.8263	0.08855	0.1651:0.5311:0.0:0.3038	.	433	O14594	NCAN_HUMAN	T	447;433	ENSP00000252575:P433T	ENSP00000252575:P433T	P	+	1	0	NCAN	19198519	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.003000	0.13083	0.133000	0.18654	0.561000	0.74099	CCT		0.622	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		4	49	4	49	---	---	---	---
URI1	8725	broad.mit.edu	37	19	30476158	30476158	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:30476158C>A	ENST00000542441.2	+	3	478	c.181C>A	c.(181-183)Ctt>Att	p.L61I	URI1_ENST00000312051.6_Missense_Mutation_p.L21I|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000360605.4_Missense_Mutation_p.L43I			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	61					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										CTATAATGCCCTTCGAGAAAG	0.274																																						ENST00000542441.2																			0											c.(181-183)Ctt>Att		URI1, prefoldin-like chaperone							187.0	194.0	192.0					19																	30476158		2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30476158C>A	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.181C>A	19.37:g.30476158C>A	ENSP00000442436:p.Leu61Ile					URI1_ENST00000360605.4_Missense_Mutation_p.L43I|URI1_ENST00000392271.1_5'UTR|URI1_ENST00000312051.6_Missense_Mutation_p.L21I	p.L61I			O94763	RMP_HUMAN			3	478	+			61					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.181C>A	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.490894	0.84962	.	.	ENSG00000105176	ENST00000360605;ENST00000542441;ENST00000312051	T;T	0.45668	0.89;0.89	4.8	4.8	0.61643	Prefoldin (1);Prefoldin subunit (1);	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.71517	-0.4569	10	0.87932	D	0	-12.645	16.0247	0.80536	0.0:1.0:0.0:0.0	.	21;61;59	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	I	59;61;21	ENSP00000442436:L61I;ENSP00000312530:L21I	ENSP00000312530:L21I	L	+	1	0	C19orf2	35167998	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	5.293000	0.65680	2.230000	0.72887	0.563000	0.77884	CTT		0.274	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		9	391	9	391	---	---	---	---
URI1	8725	broad.mit.edu	37	19	30477259	30477259	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:30477259G>T	ENST00000542441.2	+	4	599	c.302G>T	c.(301-303)gGg>gTg	p.G101V	URI1_ENST00000312051.6_Missense_Mutation_p.G61V|URI1_ENST00000392271.1_Missense_Mutation_p.G25V|URI1_ENST00000360605.4_Missense_Mutation_p.G83V			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	101					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										GTTTTACTGGGGGACAACTGG	0.398																																						ENST00000392271.1																			0											c.(73-75)gGg>gTg		URI1, prefoldin-like chaperone							140.0	138.0	138.0					19																	30477259		2203	4300	6503	SO:0001583	missense	8725				protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr19:30477259G>T	AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.302G>T	19.37:g.30477259G>T	ENSP00000442436:p.Gly101Val					URI1_ENST00000360605.4_Missense_Mutation_p.G83V|URI1_ENST00000542441.2_Missense_Mutation_p.G101V|URI1_ENST00000312051.6_Missense_Mutation_p.G61V	p.G25V	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN			4	599	+			101					A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	ENST00000542441.2	37	c.74G>T	CCDS12420.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913651	0.92178	.	.	ENSG00000105176	ENST00000360605;ENST00000392271;ENST00000542441;ENST00000312051	T;T;T	0.75050	-0.9;-0.9;-0.9	5.25	5.25	0.73442	Prefoldin (1);Prefoldin subunit (1);	0.046629	0.85682	D	0.000000	D	0.88908	0.6565	M	0.88842	2.985	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	0.90674	0.4600	10	0.87932	D	0	-12.3649	19.2111	0.93755	0.0:0.0:1.0:0.0	.	61;101;99	F8W9T0;O94763;Q8TC23	.;RMP_HUMAN;.	V	99;25;101;61	ENSP00000376097:G25V;ENSP00000442436:G101V;ENSP00000312530:G61V	ENSP00000312530:G61V	G	+	2	0	C19orf2	35169099	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.329000	0.96413	2.624000	0.88883	0.563000	0.77884	GGG		0.398	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447		7	276	7	276	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769507	31769507	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:31769507G>T	ENST00000240587.4	-	2	1519	c.1192C>A	c.(1192-1194)Ctg>Atg	p.L398M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	398					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGCTCCTGCAGGGTGTCATGC	0.572																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1192-1194)Ctg>Atg		teashirt zinc finger homeobox 3							158.0	147.0	150.0					19																	31769507		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769507G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1192C>A	19.37:g.31769507G>T	ENSP00000240587:p.Leu398Met						p.L398M	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1519	-	Esophageal squamous(110;0.226)		398					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1192C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111702	0.37242	.	.	ENSG00000121297	ENST00000240587	T	0.29917	1.55	5.73	2.33	0.28932	Zinc finger, C2H2-like (1);	0.000000	0.64402	D	0.000001	T	0.38214	0.1032	L	0.36672	1.1	0.50039	D	0.999846	D	0.76494	0.999	D	0.75020	0.985	T	0.13072	-1.0523	10	0.56958	D	0.05	-18.9099	6.3009	0.21111	0.3074:0.1287:0.5639:0.0	.	398	Q63HK5	TSH3_HUMAN	M	398	ENSP00000240587:L398M	ENSP00000240587:L398M	L	-	1	2	TSHZ3	36461347	0.965000	0.33210	0.636000	0.29352	0.920000	0.55202	1.647000	0.37260	0.726000	0.32339	0.655000	0.94253	CTG		0.572	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		6	228	6	228	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33113352	33113352	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:33113352G>T	ENST00000306065.4	-	18	1961	c.1803C>A	c.(1801-1803)ccC>ccA	p.P601P		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	601					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CACACTTGAGGGGCGTCTCCT	0.527																																						ENST00000306065.4																			0				breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(1801-1803)ccC>ccA		ankyrin repeat domain 27 (VPS9 domain)							255.0	221.0	232.0					19																	33113352		2203	4300	6503	SO:0001819	synonymous_variant	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33113352G>T	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.1803C>A	19.37:g.33113352G>T							p.P601P	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			18	1961	-	Esophageal squamous(110;0.137)		601					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Silent	SNP	ENST00000306065.4	37	c.1803C>A	CCDS32986.1																																																																																				0.527	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		8	514	8	514	---	---	---	---
CEP89	84902	broad.mit.edu	37	19	33424468	33424468	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:33424468G>T	ENST00000305768.5	-	8	863	c.775C>A	c.(775-777)Ctt>Att	p.L259I	CEP89_ENST00000590597.2_Missense_Mutation_p.L259I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	259					cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTTAGTTCAAGGGTAAGGCTT	0.358																																						ENST00000305768.5																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						c.(775-777)Ctt>Att		centrosomal protein 89kDa							272.0	246.0	255.0					19																	33424468		2203	4300	6503	SO:0001583	missense	84902					centrosome|spindle pole		g.chr19:33424468G>T	AL832158	CCDS32987.1	19q13.11	2014-02-20	2011-05-06	2011-05-06		ENSG00000121289			25907	protein-coding gene	gene with protein product		615470	"""coiled-coil domain containing 123"""	CCDC123		16395595	Standard	NM_032816		Approved	FLJ14640	uc002nty.3	Q96ST8		ENST00000305768.5:c.775C>A	19.37:g.33424468G>T	ENSP00000306105:p.Leu259Ile					CEP89_ENST00000590597.2_Missense_Mutation_p.L259I	p.L259I	NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN			8	863	-								B9EGA6|Q8N5J8	Missense_Mutation	SNP	ENST00000305768.5	37	c.775C>A	CCDS32987.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.887952	0.33348	.	.	ENSG00000121289	ENST00000305768	T	0.31247	1.5	5.09	0.3	0.15776	.	1.213460	0.05698	N	0.593629	T	0.34483	0.0899	M	0.65975	2.015	0.09310	N	1	B;P;P	0.43352	0.386;0.804;0.804	B;B;B	0.44085	0.124;0.292;0.44	T	0.25012	-1.0144	10	0.38643	T	0.18	5.4751	5.0182	0.14347	0.3272:0.1457:0.5271:0.0	.	259;12;259	Q96ST8-3;Q96ST8-2;Q96ST8	.;.;CEP89_HUMAN	I	259	ENSP00000306105:L259I	ENSP00000306105:L259I	L	-	1	0	CEP89	38116308	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.765000	0.26546	-0.014000	0.14175	0.467000	0.42956	CTT		0.358	CEP89-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451300.2	NM_032816		8	382	8	382	---	---	---	---
RHPN2	85415	broad.mit.edu	37	19	33535271	33535271	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:33535271C>A	ENST00000254260.3	-	2	105		c.e2-1		RHPN2_ENST00000400226.4_Splice_Site	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GATTACAGCCCTGAGGAAAAA	0.428																																						ENST00000254260.3																			0				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44						c.e2-1		rhophilin, Rho GTPase binding protein 2							46.0	45.0	46.0					19																	33535271		2203	4300	6503	SO:0001630	splice_region_variant	85415				signal transduction	perinuclear region of cytoplasm	protein binding	g.chr19:33535271C>A	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.70-1G>T	19.37:g.33535271C>A						RHPN2_ENST00000400226.4_Splice_Site		NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN			2	105	-	Esophageal squamous(110;0.137)							B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Splice_Site	SNP	ENST00000254260.3	37		CCDS12427.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993119	0.35131	.	.	ENSG00000131941	ENST00000254260	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8132	0.88623	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RHPN2	38227111	1.000000	0.71417	0.994000	0.49952	0.108000	0.19459	7.069000	0.76755	2.563000	0.86464	0.561000	0.74099	.		0.428	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450828.2	NM_033103	Intron	6	124	6	124	---	---	---	---
KIAA0355	9710	broad.mit.edu	37	19	34832949	34832949	+	Missense_Mutation	SNP	C	C	A	rs142267455		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:34832949C>A	ENST00000299505.6	+	10	2983	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	704										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					ACGGGCACCCCAGGCTGGGGC	0.612																																						ENST00000299505.6																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41						c.(2110-2112)Cag>Aag		KIAA0355							75.0	77.0	76.0					19																	34832949		2203	4300	6503	SO:0001583	missense	9710							g.chr19:34832949C>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2110C>A	19.37:g.34832949C>A	ENSP00000299505:p.Gln704Lys						p.Q704K	NM_014686.3	NP_055501.2	O15063	K0355_HUMAN			10	2983	+	Esophageal squamous(110;0.162)		704					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.2110C>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917998	0.73098	.	.	ENSG00000166398	ENST00000299505	T	0.24538	1.85	5.53	5.53	0.82687	.	0.073354	0.56097	D	0.000038	T	0.22742	0.0549	N	0.24115	0.695	0.50039	D	0.999844	B	0.21606	0.058	B	0.24155	0.051	T	0.04320	-1.0960	10	0.87932	D	0	-4.1046	18.4467	0.90686	0.0:1.0:0.0:0.0	.	704	O15063	K0355_HUMAN	K	704	ENSP00000299505:Q704K	ENSP00000299505:Q704K	Q	+	1	0	KIAA0355	39524789	1.000000	0.71417	0.993000	0.49108	0.981000	0.71138	4.919000	0.63383	2.602000	0.87976	0.655000	0.94253	CAG		0.612	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		6	106	6	106	---	---	---	---
ZNF181	339318	broad.mit.edu	37	19	35231965	35231965	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:35231965C>A	ENST00000492450.1	+	4	768	c.679C>A	c.(679-681)Ctt>Att	p.L227I	ZNF181_ENST00000392232.3_Missense_Mutation_p.L271I|ZNF181_ENST00000459757.2_Missense_Mutation_p.L226I			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	227					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(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			ATCTCTTACCCTTCCCCAGAC	0.393																																						ENST00000392232.3																			0				endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22						c.(811-813)Ctt>Att		zinc finger protein 181							99.0	112.0	107.0					19																	35231965		2201	4299	6500	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35231965C>A	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.679C>A	19.37:g.35231965C>A	ENSP00000420727:p.Leu227Ile					ZNF181_ENST00000492450.1_Missense_Mutation_p.L227I|ZNF181_ENST00000459757.2_Missense_Mutation_p.L226I	p.L271I			Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		6	979	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		227					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.811C>A	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	C	6.707	0.499087	0.12762	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.07567	3.18;3.18;3.18	2.89	1.84	0.25277	.	.	.	.	.	T	0.16938	0.0407	L	0.45285	1.41	0.26202	N	0.979429	B;P	0.52842	0.18;0.956	B;D	0.65010	0.048;0.931	T	0.07158	-1.0787	9	0.49607	T	0.09	.	8.3067	0.32047	0.0:0.8734:0.0:0.1266	.	226;227	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	I	271;226;227;226	ENSP00000376065:L271I;ENSP00000420727:L227I;ENSP00000419435:L226I	ENSP00000376065:L271I	L	+	1	0	ZNF181	39923805	0.000000	0.05858	0.063000	0.19743	0.009000	0.06853	-0.965000	0.03829	0.776000	0.33473	0.491000	0.48974	CTT		0.393	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		7	366	7	366	---	---	---	---
LSR	51599	broad.mit.edu	37	19	35749931	35749931	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:35749931G>T	ENST00000361790.3	+	3	841	c.682G>T	c.(682-684)Ggg>Tgg	p.G228W	LSR_ENST00000427250.1_Intron|LSR_ENST00000602122.1_Missense_Mutation_p.G228W|LSR_ENST00000354900.3_Missense_Mutation_p.G228W|LSR_ENST00000360798.3_Missense_Mutation_p.G228W|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000347609.4_Missense_Mutation_p.G191W	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	228	Ig-like V-type.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGACCTCCAGGGGAACAATGA	0.592																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(682-684)Ggg>Tgg		lipolysis stimulated lipoprotein receptor							128.0	93.0	105.0					19																	35749931		2203	4300	6503	SO:0001583	missense	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35749931G>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.682G>T	19.37:g.35749931G>T	ENSP00000354575:p.Gly228Trp					LSR_ENST00000354900.3_Missense_Mutation_p.G228W|LSR_ENST00000347609.4_Missense_Mutation_p.G191W|LSR_ENST00000360798.3_Missense_Mutation_p.G228W|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000427250.1_Intron|LSR_ENST00000361790.3_Missense_Mutation_p.G228W	p.G228W			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	1169	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		228			Ig-like V-type.		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Missense_Mutation	SNP	ENST00000361790.3	37	c.682G>T	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044140	0.75732	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609	D;D;D;D	0.91124	-2.63;-2.46;-2.79;-2.63	4.99	3.96	0.45880	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	M	0.84219	2.685	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999	D	0.94934	0.8085	10	0.87932	D	0	-29.9748	11.1732	0.48584	0.0894:0.0:0.9106:0.0	.	191;228;228;228;228	Q86X29-2;Q86X29-3;A6NDW3;E9PHD4;Q86X29	.;.;.;.;LSR_HUMAN	W	228;228;228;191	ENSP00000354575:G228W;ENSP00000346976:G228W;ENSP00000354034:G228W;ENSP00000262627:G191W	ENSP00000262627:G191W	G	+	1	0	LSR	40441771	1.000000	0.71417	0.625000	0.29200	0.962000	0.63368	8.832000	0.92079	1.341000	0.45600	0.561000	0.74099	GGG		0.592	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		5	113	5	113	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36210766	36210766	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:36210766C>A	ENST00000222270.7	+	3	517	c.517C>A	c.(517-519)Ccc>Acc	p.P173T	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.P173T|KMT2B_ENST00000341701.1_Missense_Mutation_p.P173T	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	173					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGCTCCTACCCCCCCAAAGAC	0.632																																						ENST00000222270.7																			0											c.(517-519)Ccc>Acc		lysine (K)-specific methyltransferase 2B							44.0	52.0	49.0					19																	36210766		1956	4138	6094	SO:0001583	missense	9757							g.chr19:36210766C>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.517C>A	19.37:g.36210766C>A	ENSP00000222270:p.Pro173Thr					KMT2B_ENST00000420124.1_Missense_Mutation_p.P173T|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000341701.1_Missense_Mutation_p.P173T	p.P173T	NM_014727.1	NP_055542.1					3	517	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.517C>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168819	0.57584	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.85484	-1.99;-1.99;0.59	5.06	4.01	0.46588	.	0.176316	0.27500	N	0.019086	T	0.70046	0.3179	N	0.08118	0	0.29144	N	0.878853	B	0.20052	0.041	B	0.19391	0.025	T	0.66480	-0.5913	10	0.87932	D	0	.	9.5529	0.39321	0.0:0.9023:0.0:0.0977	.	173	Q9UMN6	MLL4_HUMAN	T	173	ENSP00000222270:P173T;ENSP00000398837:P173T;ENSP00000345761:P173T	ENSP00000222270:P173T	P	+	1	0	AD000671.1	40902606	0.273000	0.24181	1.000000	0.80357	0.993000	0.82548	0.902000	0.28459	2.632000	0.89209	0.561000	0.74099	CCC		0.632	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		6	138	6	138	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36216191	36216191	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:36216191C>A	ENST00000222270.7	+	11	3599	c.3599C>A	c.(3598-3600)cCc>cAc	p.P1200H	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.P1200H	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1200					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCAGGGGGCCCCCCGATGGTG	0.597																																						ENST00000222270.7																			0											c.(3598-3600)cCc>cAc		lysine (K)-specific methyltransferase 2B							30.0	35.0	34.0					19																	36216191		1958	4126	6084	SO:0001583	missense	9757							g.chr19:36216191C>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3599C>A	19.37:g.36216191C>A	ENSP00000222270:p.Pro1200His					KMT2B_ENST00000420124.1_Missense_Mutation_p.P1200H|KMT2B_ENST00000607650.1_RNA	p.P1200H	NM_014727.1	NP_055542.1					11	3599	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.3599C>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.282578	0.59867	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.90133	-2.62;-2.62	5.54	5.54	0.83059	.	0.000000	0.44483	D	0.000450	D	0.93789	0.8014	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.93577	0.6909	10	0.59425	D	0.04	.	18.4191	0.90582	0.0:1.0:0.0:0.0	.	1200	Q9UMN6	MLL4_HUMAN	H	1200	ENSP00000222270:P1200H;ENSP00000398837:P1200H	ENSP00000222270:P1200H	P	+	2	0	AD000671.1	40908031	0.998000	0.40836	0.676000	0.29932	0.884000	0.51177	7.178000	0.77657	2.884000	0.98904	0.655000	0.94253	CCC		0.597	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		4	50	4	50	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37677768	37677768	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:37677768G>T	ENST00000532828.2	-	5	922	c.671C>A	c.(670-672)cCt>cAt	p.P224H	ZNF585B_ENST00000531805.1_Missense_Mutation_p.P169H|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGTTATAAGGGAAACCTTT	0.393																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(670-672)cCt>cAt		zinc finger protein 585B							115.0	114.0	114.0					19																	37677768		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677768G>T	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.671C>A	19.37:g.37677768G>T	ENSP00000433773:p.Pro224His					ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.P169H|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	p.P224H	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	922	-			224					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.671C>A	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	G	3.884	-0.025372	0.07589	.	.	ENSG00000245680	ENST00000531805;ENST00000532828	T;T	0.15139	2.45;2.45	2.78	0.123	0.14709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.478255	0.15695	N	0.249204	T	0.05364	0.0142	N	0.03050	-0.425	0.09310	N	0.999998	B;B	0.20368	0.044;0.002	B;B	0.24974	0.057;0.002	T	0.31558	-0.9939	10	0.33940	T	0.23	.	1.2372	0.01955	0.1279:0.186:0.3067:0.3794	.	169;224	E9PQH3;Q52M93	.;Z585B_HUMAN	H	169;224	ENSP00000436774:P169H;ENSP00000433773:P224H	ENSP00000436774:P169H	P	-	2	0	ZNF585B	42369608	0.000000	0.05858	0.020000	0.16555	0.854000	0.48673	-5.276000	0.00135	0.461000	0.27071	0.455000	0.32223	CCT		0.393	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		6	237	6	237	---	---	---	---
CATSPERG	57828	broad.mit.edu	37	19	38858158	38858158	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:38858158C>A	ENST00000409235.3	+	24	2895	c.2780C>A	c.(2779-2781)cCc>cAc	p.P927H	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.P887H	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	927					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GTTTTCTACCCCTTCTTCTTG	0.552																																						ENST00000409235.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						c.(2779-2781)cCc>cAc		catsper channel auxiliary subunit gamma							309.0	337.0	328.0					19																	38858158		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38858158C>A	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2780C>A	19.37:g.38858158C>A	ENSP00000386962:p.Pro927His					CATSPERG_ENST00000410018.1_Missense_Mutation_p.P887H|CATSPERG_ENST00000215069.4_3'UTR	p.P927H	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN			24	2895	+			927					A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2780C>A	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337079	0.60963	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.30448	1.56;1.53	3.93	3.93	0.45458	.	0.000000	0.44097	U	0.000486	T	0.51160	0.1658	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.971	T	0.55029	-0.8204	10	0.87932	D	0	-24.2207	11.4417	0.50100	0.0:1.0:0.0:0.0	.	927;887	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	H	887;927;927	ENSP00000387057:P887H;ENSP00000386962:P927H	ENSP00000386962:P927H	P	+	2	0	CATSPERG	43549998	0.999000	0.42202	0.998000	0.56505	0.931000	0.56810	4.632000	0.61311	1.708000	0.51301	0.491000	0.48974	CCC		0.552	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		11	976	11	976	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38881008	38881008	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:38881008G>T	ENST00000338502.4	+	1	169	c.66G>T	c.(64-66)ggG>ggT	p.G22G	SPRED3_ENST00000586301.1_Silent_p.G22G|GGN_ENST00000591809.1_5'Flank|SPRED3_ENST00000587013.1_Intron|GGN_ENST00000334928.6_5'Flank|SPRED3_ENST00000587564.2_3'UTR	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	22	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCCTGTGGGGGGCGGGGGCC	0.716																																						ENST00000338502.4																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(64-66)ggG>ggT		sprouty-related, EVH1 domain containing 3							16.0	18.0	17.0					19																	38881008		1998	4149	6147	SO:0001819	synonymous_variant	399473				multicellular organismal development			g.chr19:38881008G>T		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.66G>T	19.37:g.38881008G>T						SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000587013.1_Intron|SPRED3_ENST00000586301.1_Silent_p.G22G	p.G22G	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		1	169	+	all_cancers(60;3.4e-06)		22			WH1.		Q2MJR1	Silent	SNP	ENST00000338502.4	37	c.66G>T	CCDS42560.1																																																																																				0.716	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		4	45	4	45	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	39039027	39039027	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:39039027C>A	ENST00000359596.3	+	89	12249	c.12249C>A	c.(12247-12249)ccC>ccA	p.P4083P	RYR1_ENST00000355481.4_Silent_p.P4078P|RYR1_ENST00000360985.3_Silent_p.P4078P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4083					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TAACGGATCCCCGTGGCCTCA	0.552																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(12232-12234)ccC>ccA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						140.0	118.0	126.0					19																	39039027		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39039027C>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12249C>A	19.37:g.39039027C>A						RYR1_ENST00000360985.3_Silent_p.P4078P|RYR1_ENST00000359596.3_Silent_p.P4083P	p.P4078P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		88	12365	+	all_cancers(60;7.91e-06)		4083					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.12234C>A	CCDS33011.1																																																																																				0.552	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	189	5	189	---	---	---	---
PLD3	23646	broad.mit.edu	37	19	40880402	40880402	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:40880402C>A	ENST00000409587.1	+	10	1291	c.894C>A	c.(892-894)ccC>ccA	p.P298P	PLD3_ENST00000409419.1_Silent_p.P298P|PLD3_ENST00000409281.1_Silent_p.P298P|PLD3_ENST00000356508.5_Silent_p.P298P|PLD3_ENST00000409735.4_Silent_p.P298P			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	298					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CGCCCCCACCCCTGTGTCCAA	0.597																																						ENST00000409587.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(892-894)ccC>ccA		phospholipase D family, member 3							103.0	94.0	97.0					19																	40880402		2203	4300	6503	SO:0001819	synonymous_variant	23646				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding	g.chr19:40880402C>A	BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.894C>A	19.37:g.40880402C>A						PLD3_ENST00000409281.1_Silent_p.P298P|PLD3_ENST00000409419.1_Silent_p.P298P|PLD3_ENST00000409735.4_Silent_p.P298P|PLD3_ENST00000356508.5_Silent_p.P298P	p.P298P			Q8IV08	PLD3_HUMAN	Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)		10	1291	+			298					Q92853|Q9BW87	Silent	SNP	ENST00000409587.1	37	c.894C>A	CCDS33027.1																																																																																				0.597	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1	NM_012268		5	151	5	151	---	---	---	---
CYP2A7	1549	broad.mit.edu	37	19	41386418	41386418	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:41386418C>A	ENST00000301146.4	-	3	1000	c.459G>T	c.(457-459)tcG>tcT	p.S153S	CYP2A7_ENST00000291764.3_Silent_p.S102S|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	153						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGAGGAAGCCCGACTCCTCCT	0.672																																						ENST00000301146.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(457-459)tcG>tcT		cytochrome P450, family 2, subfamily A, polypeptide 7							50.0	46.0	48.0					19																	41386418		2203	4300	6503	SO:0001819	synonymous_variant	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41386418C>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.459G>T	19.37:g.41386418C>A						CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.S102S	p.S153S	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	1000	-			153					Q13121	Silent	SNP	ENST00000301146.4	37	c.459G>T	CCDS12569.1																																																																																				0.672	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		4	108	4	108	---	---	---	---
CEACAM4	1089	broad.mit.edu	37	19	42132091	42132091	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:42132091G>T	ENST00000221954.2	-	2	418	c.308C>A	c.(307-309)cCc>cAc	p.P103H	CEACAM4_ENST00000600925.1_Missense_Mutation_p.P103H	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	103	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						GGATCCATTGGGGTATACTGT	0.512																																						ENST00000221954.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(307-309)cCc>cAc		carcinoembryonic antigen-related cell adhesion molecule 4							191.0	174.0	180.0					19																	42132091		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132091G>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.308C>A	19.37:g.42132091G>T	ENSP00000221954:p.Pro103His					CEACAM4_ENST00000600925.1_Missense_Mutation_p.P103H	p.P103H	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	418	-			103			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.308C>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	G	4.877	0.163066	0.09287	.	.	ENSG00000105352	ENST00000221954	T	0.01613	4.73	1.76	-3.05	0.05396	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01489	0.0048	L	0.52011	1.625	0.09310	N	1	B;B	0.30068	0.267;0.0	B;B	0.23419	0.046;0.003	T	0.45411	-0.9263	9	0.30854	T	0.27	.	0.5642	0.00684	0.1811:0.2414:0.3337:0.2437	.	103;103	E7EMX3;O75871	.;CEAM4_HUMAN	H	103	ENSP00000221954:P103H	ENSP00000221954:P103H	P	-	2	0	CEACAM4	46823931	0.006000	0.16342	0.000000	0.03702	0.019000	0.09904	-0.506000	0.06359	-0.616000	0.05671	0.205000	0.17691	CCC		0.512	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		6	289	6	289	---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42490070	42490070	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:42490070C>A	ENST00000302102.5	-	6	702	c.552G>T	c.(550-552)aaG>aaT	p.K184N	ATP1A3_ENST00000602133.1_Missense_Mutation_p.K154N|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000545399.1_Missense_Mutation_p.K197N|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K195N	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	184					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)	p.K184K(1)		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						GGTCTCCACCCTTGATCTCCA	0.642																																						ENST00000545399.1																			1	Substitution - coding silent(1)	p.K184K(1)	lung(1)	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						c.(589-591)aaG>aaT		ATPase, Na+/K+ transporting, alpha 3 polypeptide							167.0	146.0	153.0					19																	42490070		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42490070C>A		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.552G>T	19.37:g.42490070C>A	ENSP00000302397:p.Lys184Asn					ATP1A3_ENST00000543770.1_Missense_Mutation_p.K195N|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K154N|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K184N	p.K197N	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN			6	744	-			184					B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.591G>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.343093	0.61073	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	3.75	3.75	0.43078	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.058112	0.64402	D	0.000005	D	0.93559	0.7944	L	0.58354	1.805	0.58432	D	0.999999	P;D;D;P	0.67145	0.896;0.961;0.996;0.924	P;P;D;P	0.71656	0.451;0.723;0.974;0.819	D	0.93102	0.6509	10	0.87932	D	0	.	7.5468	0.27772	0.0:0.8773:0.0:0.1227	.	197;195;184;184	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	N	184;184;197;154;195	ENSP00000302397:K184N;ENSP00000411503:K184N;ENSP00000444688:K197N;ENSP00000437577:K195N	ENSP00000302397:K184N	K	-	3	2	ATP1A3	47181910	0.998000	0.40836	1.000000	0.80357	0.595000	0.36748	0.686000	0.25392	1.833000	0.53350	0.313000	0.20887	AAG		0.642	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		5	175	5	175	---	---	---	---
PSG1	5669	broad.mit.edu	37	19	43383715	43383715	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:43383715G>T	ENST00000436291.2	-	1	135	c.19C>A	c.(19-21)Cct>Act	p.P7T	PSG1_ENST00000403380.3_Missense_Mutation_p.P7T|PSG1_ENST00000595124.1_Missense_Mutation_p.P7T|PSG1_ENST00000595356.1_Missense_Mutation_p.P7T|PSG1_ENST00000244296.2_Missense_Mutation_p.P7T|PSG1_ENST00000312439.6_Missense_Mutation_p.P7T|PSG1_ENST00000601073.1_5'UTR	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	7					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GTGCAGGGAGGGGCTGAGAGG	0.567																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(19-21)Cct>Act		pregnancy specific beta-1-glycoprotein 1							187.0	158.0	168.0					19																	43383715		1510	2707	4217	SO:0001583	missense	5669							g.chr19:43383715G>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.19C>A	19.37:g.43383715G>T	ENSP00000413041:p.Pro7Thr					PSG1_ENST00000312439.6_Missense_Mutation_p.P7T|PSG1_ENST00000436291.2_Missense_Mutation_p.P7T|PSG1_ENST00000595356.1_Missense_Mutation_p.P7T|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.P7T|PSG1_ENST00000595124.1_Missense_Mutation_p.P7T	p.P7T	NM_006905.2	NP_008836.2					1	156	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.19C>A	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	11.58	1.681608	0.29872	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.35236	1.33;5.88;1.32;1.37	1.64	-3.04	0.05412	.	.	.	.	.	T	0.46833	0.1413	M	0.64404	1.975	0.09310	N	1	D;D;D;D;P;D;P;D;D	0.89917	0.994;0.988;1.0;1.0;0.533;0.992;0.941;1.0;0.966	P;P;D;D;B;D;P;D;P	0.91635	0.839;0.883;0.998;0.999;0.076;0.939;0.515;0.996;0.852	T	0.39057	-0.9632	9	0.72032	D	0.01	.	2.0628	0.03596	0.3625:0.0:0.3862:0.2513	.	7;7;7;7;7;7;7;7;7	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	T	7	ENSP00000413041:P7T;ENSP00000385386:P7T;ENSP00000308970:P7T;ENSP00000244296:P7T	ENSP00000244296:P7T	P	-	1	0	PSG1	48075555	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.118000	0.03280	-0.606000	0.05746	0.184000	0.17185	CCT		0.567	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			6	237	6	237	---	---	---	---
ZNF283	284349	broad.mit.edu	37	19	44352689	44352689	+	Missense_Mutation	SNP	A	A	G	rs386809610		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:44352689A>G	ENST00000324461.7	+	7	2233	c.1936A>G	c.(1936-1938)Aga>Gga	p.R646G	ZNF283_ENST00000588797.1_Missense_Mutation_p.R507G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	646			R -> I (in dbSNP:rs10417624).		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)	p.R646G(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGTTCATGAGAGAACTCATAG	0.368																																						ENST00000324461.7																			1	Substitution - Missense(1)	p.R646G(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(4)	8						c.(1936-1938)Aga>Gga		zinc finger protein 283							91.0	97.0	95.0					19																	44352689		1955	4155	6110	SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44352689A>G	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.1936A>G	19.37:g.44352689A>G	ENSP00000327314:p.Arg646Gly					ZNF283_ENST00000588797.1_Missense_Mutation_p.R507G	p.R646G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN			7	2233	+		Prostate(69;0.0352)	646		R -> I (in dbSNP:rs10417624).			B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	SNP	ENST00000324461.7	37	c.1936A>G	CCDS46097.1	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259715	0.39995	.	.	ENSG00000167637	ENST00000324461	T	0.49432	0.78	2.89	1.86	0.25419	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45895	0.1365	M	0.81682	2.555	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.42413	-0.9453	9	0.59425	D	0.04	.	6.1127	0.20110	0.8666:0.0:0.1334:0.0	.	646	Q8N7M2	ZN283_HUMAN	G	646	ENSP00000327314:R646G	ENSP00000327314:R646G	R	+	1	2	ZNF283	49044529	0.003000	0.15002	0.229000	0.23960	0.174000	0.22865	0.276000	0.18716	0.346000	0.23899	0.455000	0.32223	AGA		0.368	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1	NM_181845		5	132	5	132	---	---	---	---
BCAM	4059	broad.mit.edu	37	19	45314562	45314562	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:45314562C>A	ENST00000270233.6	+	2	185	c.163C>A	c.(163-165)Cct>Act	p.P55T	BCAM_ENST00000589651.1_Missense_Mutation_p.P55T	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	55	Ig-like V-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGACTGCACCCCTACGGGAAC	0.592																																						ENST00000589651.1																			0				central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(163-165)Cct>Act		basal cell adhesion molecule (Lutheran blood group)							195.0	176.0	182.0					19																	45314562		2203	4300	6503	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45314562C>A	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.163C>A	19.37:g.45314562C>A	ENSP00000270233:p.Pro55Thr					BCAM_ENST00000270233.6_Missense_Mutation_p.P55T	p.P55T			P50895	BCAM_HUMAN			2	217	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				Ig-like V-type 1.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.163C>A	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	11.40	1.626638	0.28978	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.26660	1.72;1.72	3.64	1.17	0.20885	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.17109	0.0411	L	0.29908	0.895	0.09310	N	1	P	0.41345	0.746	B	0.42916	0.402	T	0.14309	-1.0477	9	0.16420	T	0.52	-9.1417	5.6576	0.17650	0.2277:0.5507:0.2216:0.0	.	55	P50895	BCAM_HUMAN	T	55	ENSP00000270233:P55T;ENSP00000375817:P55T	ENSP00000270233:P55T	P	+	1	0	BCAM	50006402	0.002000	0.14202	0.203000	0.23512	0.124000	0.20399	1.264000	0.33015	0.835000	0.34877	0.305000	0.20034	CCT		0.592	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		6	208	6	208	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911704	45911704	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:45911704G>T	ENST00000309424.3	+	3	966	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W	ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.G162W|ERCC1_ENST00000588738.1_5'Flank|PPP1R13L_ENST00000418234.2_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	160					rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		ACCAGTCACAGGGCCTAGGTC	0.622																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(478-480)Ggg>Tgg		CD3e molecule, epsilon associated protein							50.0	49.0	49.0					19																	45911704		2203	4300	6503	SO:0001583	missense	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911704G>T	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.478G>T	19.37:g.45911704G>T	ENSP00000310966:p.Gly160Trp					ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.G162W|ERCC1_ENST00000300853.3_3'UTR	p.G160W	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	966	+		all_neural(266;0.224)|Ovarian(192;0.231)	160					Q32N11|Q7Z5U2|Q9UPF6	Missense_Mutation	SNP	ENST00000309424.3	37	c.478G>T	CCDS12661.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022181	0.54683	.	.	ENSG00000117877	ENST00000309424	T	0.20200	2.09	4.77	4.77	0.60923	.	0.215871	0.33180	N	0.005199	T	0.42108	0.1188	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.28618	-1.0038	10	0.72032	D	0.01	-35.2663	13.6409	0.62251	0.0:0.0:1.0:0.0	.	162;160	O15446-2;O15446	.;RPA34_HUMAN	W	160	ENSP00000310966:G160W	ENSP00000310966:G160W	G	+	1	0	CD3EAP	50603544	0.751000	0.28327	0.998000	0.56505	0.431000	0.31685	1.976000	0.40579	2.356000	0.79943	0.561000	0.74099	GGG		0.622	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		5	99	5	99	---	---	---	---
TPRX1	284355	broad.mit.edu	37	19	48305095	48305095	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:48305095G>T	ENST00000322175.3	-	2	1328	c.1173C>A	c.(1171-1173)ccC>ccA	p.P391P	TPRX1_ENST00000543508.1_Silent_p.P381P|TPRX1_ENST00000535759.1_Silent_p.P488P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	391						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CCTCCTCTTGGGGCTGAGACC	0.527																																					Esophageal Squamous(123;175 2281 3051 32395)	ENST00000535759.1																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(1462-1464)ccC>ccA		tetra-peptide repeat homeobox 1							97.0	102.0	100.0					19																	48305095		2203	4300	6503	SO:0001819	synonymous_variant	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305095G>T		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1173C>A	19.37:g.48305095G>T						TPRX1_ENST00000543508.1_Silent_p.P381P|TPRX1_ENST00000322175.3_Silent_p.P391P	p.P488P			Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	4	1463	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	391					A5D8Y3|B2RPL5	Silent	SNP	ENST00000322175.3	37	c.1464C>A	CCDS33066.1																																																																																				0.527	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		7	293	7	293	---	---	---	---
SPHK2	56848	broad.mit.edu	37	19	49131475	49131475	+	Silent	SNP	G	G	T	rs531500911		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:49131475G>T	ENST00000245222.4	+	6	1179	c.813G>T	c.(811-813)gtG>gtT	p.V271V	SPHK2_ENST00000598088.1_Silent_p.V271V|SPHK2_ENST00000599748.1_Silent_p.V235V|SPHK2_ENST00000340932.3_Silent_p.V235V|SPHK2_ENST00000599029.1_Silent_p.V235V|SPHK2_ENST00000601712.1_Silent_p.V235V|SPHK2_ENST00000600537.1_Silent_p.V212V|SPHK2_ENST00000443164.1_Silent_p.V333V	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	271	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		AGATGCCTGTGGGCATCCTCC	0.652																																						ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(997-999)gtG>gtT		sphingosine kinase 2							39.0	40.0	40.0					19																	49131475		2203	4300	6503	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49131475G>T	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.813G>T	19.37:g.49131475G>T						SPHK2_ENST00000598088.1_Silent_p.V271V|SPHK2_ENST00000599029.1_Silent_p.V235V|SPHK2_ENST00000599748.1_Silent_p.V235V|SPHK2_ENST00000600537.1_Silent_p.V212V|SPHK2_ENST00000245222.4_Silent_p.V271V|SPHK2_ENST00000340932.3_Silent_p.V235V|SPHK2_ENST00000601712.1_Silent_p.V235V	p.V333V			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	4	1704	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	271					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.999G>T	CCDS12727.1																																																																																				0.652	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			4	79	4	79	---	---	---	---
ALDH16A1	126133	broad.mit.edu	37	19	49967984	49967984	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:49967984C>A	ENST00000293350.4	+	12	1696	c.1533C>A	c.(1531-1533)ccC>ccA	p.P511P	CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000455361.2_Silent_p.P460P|ALDH16A1_ENST00000433981.2_Silent_p.P346P|ALDH16A1_ENST00000540132.1_Silent_p.P348P	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	511						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TCGCTGTTCCCTCAACCCTGC	0.617																																						ENST00000293350.4																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(1531-1533)ccC>ccA		aldehyde dehydrogenase 16 family, member A1							122.0	129.0	127.0					19																	49967984		2203	4300	6503	SO:0001819	synonymous_variant	126133						oxidoreductase activity|protein binding	g.chr19:49967984C>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1533C>A	19.37:g.49967984C>A						ALDH16A1_ENST00000540132.1_Silent_p.P348P|CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Silent_p.P346P|ALDH16A1_ENST00000455361.2_Silent_p.P460P	p.P511P	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	12	1696	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	511					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	c.1533C>A	CCDS12766.1																																																																																				0.617	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		6	273	6	273	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52620075	52620075	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:52620075G>T	ENST00000600228.1	-	4	603	c.342C>A	c.(340-342)ccC>ccA	p.P114P	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGTTTTCATGGGGCACTGGCA	0.343																																						ENST00000600228.1																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(340-342)ccC>ccA		zinc finger protein 616							208.0	187.0	194.0					19																	52620075		2202	4300	6502	SO:0001819	synonymous_variant	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52620075G>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.342C>A	19.37:g.52620075G>T						ZNF616_ENST00000330123.5_3'UTR	p.P114P	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	603	-			114					B3KRV1|Q0P658|Q658V7	Silent	SNP	ENST00000600228.1	37	c.342C>A	CCDS33090.1																																																																																				0.343	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		6	351	6	351	---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659287	52659287	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:52659287C>A	ENST00000322146.8	-	5	2170	c.1649G>T	c.(1648-1650)gGg>gTg	p.G550V	CTC-471J1.8_ENST00000594362.1_RNA|ZNF836_ENST00000597252.1_Missense_Mutation_p.G550V	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGGTTGCTCCCCAGTATGAAT	0.373																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1648-1650)gGg>gTg		zinc finger protein 836							139.0	149.0	146.0					19																	52659287		2060	4234	6294	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659287C>A	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1649G>T	19.37:g.52659287C>A	ENSP00000325038:p.Gly550Val					ZNF836_ENST00000597252.1_Missense_Mutation_p.G550V|CTC-471J1.8_ENST00000594362.1_RNA	p.G550V	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN			5	2170	-			550						Missense_Mutation	SNP	ENST00000322146.8	37	c.1649G>T	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157030	0.38119	.	.	ENSG00000196267	ENST00000322146;ENST00000396443	T	0.23552	1.9	2.09	1.02	0.19986	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49729	0.1574	M	0.85542	2.76	0.32855	D	0.507122	D	0.89917	1.0	D	0.97110	1.0	T	0.60969	-0.7157	9	0.87932	D	0	.	7.9491	0.30003	0.0:0.8476:0.0:0.1524	.	550	Q6ZNA1	ZN836_HUMAN	V	550;124	ENSP00000325038:G550V	ENSP00000325038:G550V	G	-	2	0	ZNF836	57351099	0.000000	0.05858	0.035000	0.18076	0.005000	0.04900	0.032000	0.13732	1.152000	0.42452	0.484000	0.47621	GGG		0.373	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		8	418	8	418	---	---	---	---
ZNF701	55762	broad.mit.edu	37	19	53085779	53085779	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:53085779C>A	ENST00000540331.1	+	5	890	c.665C>A	c.(664-666)cCc>cAc	p.P222H	ZNF701_ENST00000391785.3_Missense_Mutation_p.P156H|ZNF701_ENST00000301093.2_Missense_Mutation_p.P222H|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	222					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(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATATTTCACCCCGAAGGGAAA	0.418																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(664-666)cCc>cAc		zinc finger protein 701							87.0	86.0	86.0					19																	53085779		2203	4300	6503	SO:0001583	missense	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53085779C>A	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.665C>A	19.37:g.53085779C>A	ENSP00000444339:p.Pro222His					ZNF701_ENST00000391785.3_Missense_Mutation_p.P156H|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000301093.2_Missense_Mutation_p.P222H	p.P222H	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	5	890	+			156					A2RRM8|B9EGF2|F5GZM6|Q66K42	Missense_Mutation	SNP	ENST00000540331.1	37	c.665C>A	CCDS54311.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.476893	0.26511	.	.	ENSG00000167562	ENST00000391785;ENST00000301093;ENST00000540331	T;T;T	0.05025	3.51;3.53;3.53	1.81	0.467	0.16721	.	.	.	.	.	T	0.06188	0.0160	L	0.27053	0.805	0.09310	N	1	B;P	0.50943	0.025;0.94	B;P	0.46975	0.033;0.533	T	0.39663	-0.9603	9	0.52906	T	0.07	.	6.8466	0.23992	0.2717:0.7283:0.0:0.0	.	222;156	F5GZM6;Q9NV72	.;ZN701_HUMAN	H	156;222;222	ENSP00000375662:P156H;ENSP00000301093:P222H;ENSP00000444339:P222H	ENSP00000301093:P222H	P	+	2	0	ZNF701	57777591	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-3.096000	0.00606	1.001000	0.39076	0.306000	0.20318	CCC		0.418	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		6	225	6	225	---	---	---	---
VN1R2	317701	broad.mit.edu	37	19	53762616	53762616	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:53762616C>A	ENST00000341702.3	+	1	1072	c.988C>A	c.(988-990)Ctt>Att	p.L330I	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	330					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATGTTACGCCCTTTCCTTCAT	0.443																																						ENST00000341702.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31						c.(988-990)Ctt>Att		vomeronasal 1 receptor 2							273.0	237.0	249.0					19																	53762616		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762616C>A	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.988C>A	19.37:g.53762616C>A	ENSP00000351244:p.Leu330Ile					VN1R2_ENST00000598458.1_Intron	p.L330I	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1072	+			330					A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.988C>A	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.422520	0.25639	.	.	ENSG00000196131	ENST00000341702	T	0.37235	1.21	2.93	-2.45	0.06481	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.38427	0.1040	L	0.41356	1.27	0.09310	N	1	D	0.54601	0.967	P	0.58391	0.838	T	0.30387	-0.9980	9	0.52906	T	0.07	.	5.7857	0.18333	0.4711:0.4284:0.0:0.1005	.	330	Q8NFZ6	VN1R2_HUMAN	I	330	ENSP00000351244:L330I	ENSP00000351244:L330I	L	+	1	0	VN1R2	58454428	0.005000	0.15991	0.001000	0.08648	0.008000	0.06430	0.425000	0.21346	-0.311000	0.08754	-1.404000	0.01136	CTT		0.443	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		7	379	7	379	---	---	---	---
MIR520A	574467	broad.mit.edu	37	19	54194198	54194198	+	RNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:54194198C>A	ENST00000384862.1	+	0	64				MIR1283-1_ENST00000408494.1_RNA	NR_030189.1				microRNA 520a																		AAGTGCTTCCCTTTGGACTGT	0.458																																						ENST00000384862.1																			0																				144.0	134.0	137.0					19																	54194198		1568	3582	5150			574467							g.chr19:54194198C>A			19q13.42	2011-09-12		2008-12-18	ENSG00000207594	ENSG00000207594		"""ncRNAs / Micro RNAs"""	32099	non-coding RNA	RNA, micro				MIRN520A			Standard	NR_030189		Approved	hsa-mir-520a	uc021uzs.1				19.37:g.54194198C>A								NR_030189.1						0	64	+									RNA	SNP	ENST00000384862.1	37																																																																																						0.458	MIR520A-201	KNOWN	basic	miRNA	miRNA		NR_030189		5	199	5	199	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54676750	54676750	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:54676750G>T	ENST00000376591.4	-	1	194	c.63C>A	c.(61-63)ccC>ccA	p.P21P	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_Silent_p.P21P	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	21					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGCCTCCCGGGGGGCCAGCC	0.637																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(61-63)ccC>ccA		transmembrane channel-like 4							85.0	100.0	95.0					19																	54676750		2203	4300	6503	SO:0001819	synonymous_variant	147798					integral to membrane		g.chr19:54676750G>T	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.63C>A	19.37:g.54676750G>T						TMC4_ENST00000301187.4_Silent_p.P21P	p.P21P	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN			1	194	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		21					Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	ENST00000376591.4	37	c.63C>A	CCDS46174.1																																																																																				0.637	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			7	292	7	292	---	---	---	---
LILRA1	11024	broad.mit.edu	37	19	55106604	55106604	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55106604C>A	ENST00000251372.3	+	5	580	c.398C>A	c.(397-399)cCt>cAt	p.P133H	LILRA1_ENST00000453777.1_Missense_Mutation_p.P133H|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	133	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTACCCAGCCCTGTGGTGACC	0.547																																						ENST00000453777.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(397-399)cCt>cAt		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							130.0	119.0	122.0					19																	55106604		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55106604C>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.398C>A	19.37:g.55106604C>A	ENSP00000251372:p.Pro133His					LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.P133H|LILRB1_ENST00000448689.1_Intron	p.P133H	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	5	568	+			133			Ig-like C2-type 2.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.398C>A	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848857	0.32699	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.03580	3.88;3.88	2.24	-0.829	0.10796	Immunoglobulin-like fold (1);	0.258713	0.27673	N	0.018326	T	0.16685	0.0401	M	0.92317	3.295	0.19775	N	0.99996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.03249	-1.1056	10	0.72032	D	0.01	.	3.9394	0.09319	0.2702:0.4632:0.2666:0.0	.	133;133	O75019-2;O75019	.;LIRA1_HUMAN	H	133	ENSP00000251372:P133H;ENSP00000413715:P133H	ENSP00000251372:P133H	P	+	2	0	LILRA1	59798416	0.000000	0.05858	0.038000	0.18304	0.020000	0.10135	-0.999000	0.03697	0.201000	0.20466	0.194000	0.17425	CCT		0.547	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		5	181	5	181	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55331383	55331383	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55331383G>T	ENST00000391728.4	+	4	604	c.571G>T	c.(571-573)Ggg>Tgg	p.G191W	KIR3DL1_ENST00000326542.7_Missense_Mutation_p.G191W|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.G96W|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.G191W|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.G191W	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	191	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TGCCCTTGCAGGGACCTACAG	0.552																																						ENST00000391728.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(571-573)Ggg>Tgg		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							239.0	203.0	216.0					19																	55331383		2186	4162	6348	SO:0001583	missense	3811							g.chr19:55331383G>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.571G>T	19.37:g.55331383G>T	ENSP00000375608:p.Gly191Trp					KIR3DL1_ENST00000326542.7_Missense_Mutation_p.G191W|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.G191W|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.G191W|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.G96W	p.G191W	NM_013289.2	NP_037421.2				GBM - Glioblastoma multiforme(193;0.0192)	4	604	+								O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.571G>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	11.57	1.678412	0.29783	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.01613	4.73;4.73;4.73;4.73;4.73;4.73	1.44	1.44	0.22558	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.35291	U	0.003305	T	0.09379	0.0231	M	0.88310	2.945	0.09310	N	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.996	T	0.02009	-1.1230	10	0.87932	D	0	.	6.3394	0.21314	0.0:0.0:1.0:0.0	.	191;96;191;191	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	W	191;191;191;169;191;191;96	ENSP00000384528:G191W;ENSP00000443350:G191W;ENSP00000442355:G191W;ENSP00000375608:G191W;ENSP00000326868:G191W;ENSP00000350901:G96W	ENSP00000326868:G191W	G	+	1	0	KIR3DL1	60023195	0.119000	0.22226	0.005000	0.12908	0.039000	0.13416	1.161000	0.31773	1.138000	0.42230	0.184000	0.17185	GGG		0.552	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289		7	510	7	510	---	---	---	---
EPS8L1	54869	broad.mit.edu	37	19	55589469	55589469	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55589469C>A	ENST00000201647.6	+	3	87	c.31C>A	c.(31-33)Cca>Aca	p.P11T	EPS8L1_ENST00000588359.1_5'Flank|EPS8L1_ENST00000245618.5_5'Flank|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	11					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AGAAGCTGCCCCAAAGCCAAG	0.572																																					Ovarian(149;255 1863 3636 27051 29647)	ENST00000201647.6																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12						c.(31-33)Cca>Aca		EPS8-like 1							64.0	58.0	60.0					19																	55589469		2203	4300	6503	SO:0001583	missense	54869					cytoplasm		g.chr19:55589469C>A	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.31C>A	19.37:g.55589469C>A	ENSP00000201647:p.Pro11Thr					EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000586329.1_Intron	p.P11T	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	3	87	+			11					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.31C>A	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	C	9.433	1.086153	0.20390	.	.	ENSG00000131037	ENST00000201647	T	0.04119	3.7	3.98	3.98	0.46160	.	0.187727	0.33834	N	0.004507	T	0.04452	0.0122	N	0.19112	0.55	0.80722	D	1	P	0.52316	0.952	B	0.43445	0.42	T	0.51849	-0.8653	10	0.51188	T	0.08	-8.8492	11.9628	0.53017	0.0:1.0:0.0:0.0	.	11	Q8TE68	ES8L1_HUMAN	T	11	ENSP00000201647:P11T	ENSP00000201647:P11T	P	+	1	0	EPS8L1	60281281	1.000000	0.71417	0.992000	0.48379	0.400000	0.30750	3.441000	0.52893	1.956000	0.56807	0.561000	0.74099	CCA		0.572	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1	NM_017729		6	88	6	88	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55805464	55805464	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:55805464C>A	ENST00000309383.1	+	5	815	c.538C>A	c.(538-540)Ctg>Atg	p.L180M	BRSK1_ENST00000585418.1_Missense_Mutation_p.L180M|BRSK1_ENST00000590333.1_Missense_Mutation_p.L196M	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CATGGCGTCCCTGCAGGTGGG	0.607																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(538-540)Ctg>Atg		BR serine/threonine kinase 1							145.0	155.0	152.0					19																	55805464		2203	4300	6503	SO:0001583	missense	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55805464C>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.538C>A	19.37:g.55805464C>A	ENSP00000310649:p.Leu180Met					BRSK1_ENST00000590333.1_Missense_Mutation_p.L196M|BRSK1_ENST00000585418.1_Missense_Mutation_p.L180M	p.L180M	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	5	815	+		Renal(1328;0.245)	180			Protein kinase.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	c.538C>A	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	20.5	4.007082	0.75046	.	.	ENSG00000160469	ENST00000309383	T	0.66638	-0.22	4.79	2.6	0.31112	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	0.56097	D	0.000021	T	0.70613	0.3244	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71537	-0.4563	10	0.56958	D	0.05	.	11.0912	0.48117	0.0:0.8309:0.0:0.1691	.	180;196	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	M	180	ENSP00000310649:L180M	ENSP00000310649:L180M	L	+	1	2	BRSK1	60497276	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	3.418000	0.52721	1.147000	0.42369	-0.258000	0.10820	CTG		0.607	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		7	362	7	362	---	---	---	---
NLRP9	338321	broad.mit.edu	37	19	56243925	56243925	+	Missense_Mutation	SNP	C	C	A	rs75470507		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:56243925C>A	ENST00000332836.2	-	2	1299	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	424	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ACATCACGCCCTCAGACTCAG	0.473																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(1270-1272)gaG>gaT		NLR family, pyrin domain containing 9							97.0	98.0	98.0					19																	56243925		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56243925C>A	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1272G>T	19.37:g.56243925C>A	ENSP00000331857:p.Glu424Asp						p.E424D	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1299	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	424			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1272G>T	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.857780	0.00558	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.84730	-1.89	2.56	-5.13	0.02884	.	.	.	.	.	T	0.52805	0.1757	N	0.01209	-0.955	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54728	-0.8250	9	0.02654	T	1	.	6.9428	0.24502	0.6619:0.1487:0.1894:0.0	.	424	Q7RTR0	NALP9_HUMAN	D	424	ENSP00000331857:E424D	ENSP00000331857:E424D	E	-	3	2	NLRP9	60935737	0.007000	0.16637	0.000000	0.03702	0.009000	0.06853	1.672000	0.37523	-1.329000	0.02258	-0.280000	0.10049	GAG		0.473	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		6	290	6	290	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56482023	56482023	+	Missense_Mutation	SNP	G	G	T	rs530323728		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:56482023G>T	ENST00000291971.3	+	6	2566	c.2495G>T	c.(2494-2496)gGg>gTg	p.G832V	NLRP8_ENST00000590542.1_Missense_Mutation_p.G832V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	832					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GAGAACTGTGGGGCGTATTAC	0.478																																						ENST00000291971.3																			0				breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(2494-2496)gGg>gTg		NLR family, pyrin domain containing 8							133.0	141.0	138.0					19																	56482023		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56482023G>T	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2495G>T	19.37:g.56482023G>T	ENSP00000291971:p.Gly832Val					NLRP8_ENST00000590542.1_Missense_Mutation_p.G832V	p.G832V	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	6	2566	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	832					Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.2495G>T	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	6.512	0.462600	0.12402	.	.	ENSG00000179709	ENST00000291971	T	0.62105	0.05	1.93	-1.87	0.07737	.	.	.	.	.	T	0.71821	0.3385	M	0.82193	2.58	0.09310	N	1	P;D	0.69078	0.784;0.997	B;D	0.64506	0.141;0.926	T	0.60622	-0.7227	9	0.87932	D	0	.	2.1667	0.03839	0.2176:0.0:0.3338:0.4486	.	832;832	Q86W28-2;Q86W28	.;NALP8_HUMAN	V	832	ENSP00000291971:G832V	ENSP00000291971:G832V	G	+	2	0	NLRP8	61173835	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.679000	0.05203	-0.374000	0.07967	0.514000	0.50259	GGG		0.478	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		6	307	6	307	---	---	---	---
ZNF304	57343	broad.mit.edu	37	19	57867524	57867524	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:57867524C>A	ENST00000282286.5	+	3	460	c.287C>A	c.(286-288)cCa>cAa	p.P96Q	ZNF304_ENST00000598744.1_Missense_Mutation_p.P54Q|ZNF304_ENST00000443917.2_Missense_Mutation_p.P143Q|ZNF304_ENST00000391705.3_Missense_Mutation_p.P96Q			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	96					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)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ATGTGTGACCCACTCTTGAAA	0.502																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(286-288)cCa>cAa		zinc finger protein 304							110.0	96.0	101.0					19																	57867524		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57867524C>A	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.287C>A	19.37:g.57867524C>A	ENSP00000282286:p.Pro96Gln					ZNF304_ENST00000282286.5_Missense_Mutation_p.P96Q|ZNF304_ENST00000598744.1_Missense_Mutation_p.P54Q|ZNF304_ENST00000443917.2_Missense_Mutation_p.P143Q	p.P96Q	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	571	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	96						Missense_Mutation	SNP	ENST00000282286.5	37	c.287C>A	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950869	0.34471	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.27402	3.14;3.14;1.67	3.53	1.37	0.22104	Zinc finger, C2H2-like (1);Krueppel-associated box (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.30417	0.0764	L	0.53249	1.67	0.09310	N	1	P;P	0.50272	0.718;0.933	B;P	0.48030	0.316;0.564	T	0.16571	-1.0398	9	0.54805	T	0.06	.	3.0212	0.06076	0.2169:0.5548:0.0:0.2284	.	96;143	Q9HCX3;E7EQD3	ZN304_HUMAN;.	Q	96;96;143	ENSP00000282286:P96Q;ENSP00000375586:P96Q;ENSP00000401642:P143Q	ENSP00000282286:P96Q	P	+	2	0	ZNF304	62559336	0.000000	0.05858	0.000000	0.03702	0.987000	0.75469	0.177000	0.16801	0.483000	0.27608	0.563000	0.77884	CCA		0.502	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			4	93	4	93	---	---	---	---
ZNF304	57343	broad.mit.edu	37	19	57867922	57867922	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:57867922G>T	ENST00000282286.5	+	3	858	c.685G>T	c.(685-687)Ggg>Tgg	p.G229W	ZNF304_ENST00000598744.1_Missense_Mutation_p.G187W|ZNF304_ENST00000443917.2_Missense_Mutation_p.G276W|ZNF304_ENST00000391705.3_Missense_Mutation_p.G229W			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	229					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)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CGGTGATGAAGGGAAAGCCTT	0.493																																						ENST00000391705.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26						c.(685-687)Ggg>Tgg		zinc finger protein 304							100.0	86.0	91.0					19																	57867922		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57867922G>T	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.685G>T	19.37:g.57867922G>T	ENSP00000282286:p.Gly229Trp					ZNF304_ENST00000282286.5_Missense_Mutation_p.G229W|ZNF304_ENST00000598744.1_Missense_Mutation_p.G187W|ZNF304_ENST00000443917.2_Missense_Mutation_p.G276W	p.G229W	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	4	969	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	229						Missense_Mutation	SNP	ENST00000282286.5	37	c.685G>T	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	g	14.16	2.451831	0.43531	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.23754	1.89;1.89;1.89	3.49	-0.0119	0.13991	.	.	.	.	.	T	0.50684	0.1630	M	0.91663	3.23	0.09310	N	1	D;D	0.65815	0.995;0.995	D;D	0.69654	0.944;0.965	T	0.33854	-0.9852	9	0.87932	D	0	.	4.5956	0.12327	0.0904:0.1512:0.6024:0.1559	.	229;276	Q9HCX3;E7EQD3	ZN304_HUMAN;.	W	229;229;276	ENSP00000282286:G229W;ENSP00000375586:G229W;ENSP00000401642:G276W	ENSP00000282286:G229W	G	+	1	0	ZNF304	62559734	0.012000	0.17670	0.000000	0.03702	0.005000	0.04900	1.443000	0.35057	0.102000	0.17638	0.454000	0.30748	GGG		0.493	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			5	182	5	182	---	---	---	---
ZNF587	84914	broad.mit.edu	37	19	58370392	58370392	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:58370392C>A	ENST00000339656.5	+	3	794	c.612C>A	c.(610-612)ccC>ccA	p.P204P	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000423137.1_Silent_p.P203P|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Silent_p.P161P|ZNF814_ENST00000596604.1_Intron	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ATGGCCCACCCTTTCAGGAGG	0.463																																					Pancreas(59;641 1233 1885 20055 50741)	ENST00000339656.5																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15						c.(610-612)ccC>ccA		zinc finger protein 587							134.0	123.0	127.0					19																	58370392		2198	4296	6494	SO:0001819	synonymous_variant	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58370392C>A	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.612C>A	19.37:g.58370392C>A						ZNF814_ENST00000597832.1_Intron|ZNF587_ENST00000423137.1_Silent_p.P203P|ZNF587_ENST00000419854.1_Silent_p.P161P|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	p.P204P	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	794	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	204					A0AV72|G3V0H5|Q6ZMK8	Silent	SNP	ENST00000339656.5	37	c.612C>A	CCDS12964.1																																																																																				0.463	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		6	333	6	333	---	---	---	---
ZNF256	10172	broad.mit.edu	37	19	58453683	58453683	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:58453683C>A	ENST00000282308.3	-	3	689	c.493G>T	c.(493-495)Ggg>Tgg	p.G165W	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	165					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		AAGGGCTTCCCAGATACTTCA	0.468																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(493-495)Ggg>Tgg		zinc finger protein 256							156.0	144.0	148.0					19																	58453683		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58453683C>A	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.493G>T	19.37:g.58453683C>A	ENSP00000282308:p.Gly165Trp					ZNF256_ENST00000598928.1_3'UTR	p.G165W	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	689	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	165					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.493G>T	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	13.57	2.276754	0.40294	.	.	ENSG00000152454	ENST00000282308	T	0.07327	3.2	2.85	0.678	0.17969	.	.	.	.	.	T	0.20700	0.0498	M	0.63843	1.955	0.09310	N	1	D	0.71674	0.998	D	0.71656	0.974	T	0.05886	-1.0858	9	0.87932	D	0	.	7.186	0.25799	0.0:0.7209:0.1737:0.1054	.	165	Q9Y2P7	ZN256_HUMAN	W	165	ENSP00000282308:G165W	ENSP00000282308:G165W	G	-	1	0	ZNF256	63145495	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-1.099000	0.03343	0.270000	0.21984	0.460000	0.39030	GGG		0.468	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			5	180	5	180	---	---	---	---
DEFB128	245939	broad.mit.edu	37	20	168756	168756	+	Missense_Mutation	SNP	C	C	A	rs184108308		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:168756C>A	ENST00000334391.4	-	2	110	c.53G>T	c.(52-54)gGg>gTg	p.G18V		NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	defensin, beta 128	18					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GAGTCTTGCCCCGTCTGTGCA	0.428																																						ENST00000334391.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(52-54)gGg>gTg		defensin, beta 128							170.0	163.0	165.0					20																	168756		2203	4300	6503	SO:0001583	missense	245939				defense response to bacterium	extracellular region		g.chr20:168756C>A	AF525930	CCDS33430.1	20p13	2011-03-29			ENSG00000185982	ENSG00000185982		"""Defensins, beta"""	18106	protein-coding gene	gene with protein product	"""defensin, beta 28"""					11854508, 16033865	Standard	NM_001037732		Approved	DEFB-28	uc002wcz.1	Q7Z7B8	OTTHUMG00000043057	ENST00000334391.4:c.53G>T	20.37:g.168756C>A	ENSP00000335382:p.Gly18Val						p.G18V	NM_001037732.1	NP_001032821.1	Q7Z7B8	DB128_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	110	-		all_cancers(10;0.00499)|Lung NSC(37;0.227)	18					B2RU29	Missense_Mutation	SNP	ENST00000334391.4	37	c.53G>T	CCDS33430.1	.	.	.	.	.	.	.	.	.	.	c	11.74	1.728642	0.30593	.	.	ENSG00000185982	ENST00000334391	T	0.18502	2.21	4.23	-2.53	0.06326	.	2.086430	0.02146	N	0.057557	T	0.09730	0.0239	.	.	.	0.09310	N	0.999999	B	0.18310	0.027	B	0.13407	0.009	T	0.21348	-1.0248	9	0.38643	T	0.18	-0.0821	0.8373	0.01142	0.2488:0.2324:0.3235:0.1952	.	18	Q7Z7B8	DB128_HUMAN	V	18	ENSP00000335382:G18V	ENSP00000335382:G18V	G	-	2	0	DEFB128	116756	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.249000	0.08842	-0.436000	0.07254	0.651000	0.88453	GGG		0.428	DEFB128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101361.2	NM_001037732		6	324	6	324	---	---	---	---
SIRPG	55423	broad.mit.edu	37	20	1616989	1616989	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:1616989G>T	ENST00000303415.3	-	3	657	c.593C>A	c.(592-594)cCc>cAc	p.P198H	SIRPG_ENST00000381583.2_Missense_Mutation_p.P198H|SIRPG_ENST00000216927.4_Missense_Mutation_p.P198H|RP11-77C3.3_ENST00000437384.1_RNA|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381580.1_Missense_Mutation_p.P165H	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	198	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTGTCCTGTGGGGTCCACGTT	0.567																																						ENST00000381580.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						c.(493-495)cCc>cAc		signal-regulatory protein gamma							186.0	163.0	171.0					20																	1616989		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1616989G>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.593C>A	20.37:g.1616989G>T	ENSP00000305529:p.Pro198His					RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.P198H|SIRPG_ENST00000216927.4_Missense_Mutation_p.P198H|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.P198H	p.P165H			Q9P1W8	SIRPG_HUMAN			3	673	-			198			Ig-like C1-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.494C>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	12.07	1.827366	0.32329	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.00628	6.11;6.11;6.11;6.11	2.09	2.09	0.27110	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.224693	0.31519	N	0.007516	T	0.03178	0.0093	M	0.88181	2.935	0.09310	N	1	P;D	0.89917	0.895;1.0	P;D	0.78314	0.563;0.991	T	0.12682	-1.0538	10	0.51188	T	0.08	.	7.6109	0.28129	0.0:0.0:1.0:0.0	.	198;198	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	H	165;198;198;198	ENSP00000370992:P165H;ENSP00000305529:P198H;ENSP00000370995:P198H;ENSP00000216927:P198H	ENSP00000216927:P198H	P	-	2	0	SIRPG	1564989	0.041000	0.20044	0.001000	0.08648	0.001000	0.01503	2.328000	0.43867	1.148000	0.42385	0.404000	0.27445	CCC		0.567	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		5	151	5	151	---	---	---	---
GPCPD1	56261	broad.mit.edu	37	20	5528362	5528362	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:5528362C>A	ENST00000379019.4	-	20	2176	c.1964G>T	c.(1963-1965)gGg>gTg	p.G655V	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	655					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)	p.G655V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATCAGACTCCCCACACAAAGA	0.488																																						ENST00000379019.4																			1	Substitution - Missense(1)	p.G655V(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						c.(1963-1965)gGg>gTg		glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)							171.0	153.0	159.0					20																	5528362		2203	4300	6503	SO:0001583	missense	56261				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity	g.chr20:5528362C>A		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1964G>T	20.37:g.5528362C>A	ENSP00000368305:p.Gly655Val					GPCPD1_ENST00000481038.1_5'UTR	p.G655V	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN			20	2176	-			655					D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	37	c.1964G>T	CCDS13090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	1.110|1.110	-0.658350|-0.658350	0.03454|0.03454	.|.	.|.	ENSG00000125772|ENSG00000125772	ENST00000378992;ENST00000379019|ENST00000418646	T|.	0.40476|.	1.03|.	5.43|5.43	2.11|2.11	0.27256|0.27256	.|.	0.695263|.	0.13480|.	N|.	0.384723|.	T|T	0.17534|0.17534	0.0421|0.0421	N|N	0.02539|0.02539	-0.55|-0.55	0.46416|0.46416	D|D	0.999031|0.999031	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.03641|0.03641	-1.1017|-1.1017	10|5	0.22109|.	T|.	0.4|.	-3.0986|-3.0986	3.3222|3.3222	0.07054|0.07054	0.4371:0.2759:0.0:0.287|0.4371:0.2759:0.0:0.287	.|.	655|.	Q9NPB8|.	GPCP1_HUMAN|.	V|C	272;655|246	ENSP00000368305:G655V|.	ENSP00000368277:G272V|.	G|W	-|-	2|3	0|0	GPCPD1|GPCPD1	5476362|5476362	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.610000|0.610000	0.37248|0.37248	0.986000|0.986000	0.29590|0.29590	0.620000|0.620000	0.30215|0.30215	0.650000|0.650000	0.86243|0.86243	GGG|TGG		0.488	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593		7	280	7	280	---	---	---	---
PLCB1	23236	broad.mit.edu	37	20	8862392	8862392	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:8862392C>A	ENST00000338037.6	+	32	3574	c.3547C>A	c.(3547-3549)Cct>Act	p.P1183T	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1183					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CGGTTCTGCCCCTCTCTCCCT	0.488																																						ENST00000338037.6																			0				NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						c.(3547-3549)Cct>Act		phospholipase C, beta 1 (phosphoinositide-specific)							171.0	179.0	176.0					20																	8862392		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8862392C>A	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3547C>A	20.37:g.8862392C>A	ENSP00000338185:p.Pro1183Thr					PLCB1_ENST00000378641.3_3'UTR	p.P1183T	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN			32	3574	+			1183					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.3547C>A	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	C	7.121	0.578001	0.13686	.	.	ENSG00000182621	ENST00000338037;ENST00000441163	T	0.18174	2.23	5.77	4.64	0.57946	.	0.272984	0.36303	N	0.002668	T	0.06325	0.0163	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.27157	-1.0082	10	0.02654	T	1	.	6.9179	0.24369	0.1306:0.6651:0.1272:0.0771	.	1183	Q9NQ66	PLCB1_HUMAN	T	1183;1103	ENSP00000338185:P1183T	ENSP00000338185:P1183T	P	+	1	0	PLCB1	8810392	0.974000	0.33945	0.998000	0.56505	0.992000	0.81027	0.492000	0.22435	2.729000	0.93468	0.655000	0.94253	CCT		0.488	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3			6	276	6	276	---	---	---	---
MKKS	8195	broad.mit.edu	37	20	10393194	10393194	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:10393194G>T	ENST00000347364.3	-	3	1731	c.969C>A	c.(967-969)ccC>ccA	p.P323P	MKKS_ENST00000399054.2_Silent_p.P323P	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	323	Substrate-binding apical domain.				artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TTTTAGTCAGGGGTTCCATCA	0.363																																					Melanoma(79;1979 2212 6640)	ENST00000347364.3																			0				kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						c.(967-969)ccC>ccA		McKusick-Kaufman syndrome							100.0	99.0	100.0					20																	10393194		2203	4300	6503	SO:0001819	synonymous_variant	8195				brain morphogenesis|cerebral cortex development|convergent extension involved in gastrulation|detection of mechanical stimulus involved in sensory perception of sound|fat cell differentiation|flagellum assembly|gonad development|heart looping|hippocampus development|intracellular transport|melanosome transport|photoreceptor cell maintenance|pigment granule aggregation in cell center|protein folding|regulation of cilium beat frequency involved in ciliary motility|sensory perception of smell|social behavior|spermatid development|striatum development	cytosol|microtubule organizing center|motile cilium	ATP binding|unfolded protein binding	g.chr20:10393194G>T	AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.969C>A	20.37:g.10393194G>T						MKKS_ENST00000399054.2_Silent_p.P323P	p.P323P	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN			3	1731	-						Substrate-binding apical domain.		A8K7B0|D3DW18	Silent	SNP	ENST00000347364.3	37	c.969C>A	CCDS13111.1																																																																																				0.363	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077991.3			6	362	6	362	---	---	---	---
JAG1	182	broad.mit.edu	37	20	10620399	10620399	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:10620399G>T	ENST00000254958.5	-	26	3919	c.3404C>A	c.(3403-3405)cCc>cAc	p.P1135H	JAG1_ENST00000423891.2_Missense_Mutation_p.P976H	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1135					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATCCTTGATGGGGACCGTGTT	0.478									Alagille Syndrome																													ENST00000254958.5																			0				biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						c.(3403-3405)cCc>cAc		jagged 1							138.0	135.0	136.0					20																	10620399		2203	4300	6503	SO:0001583	missense	182	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10620399G>T	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.3404C>A	20.37:g.10620399G>T	ENSP00000254958:p.Pro1135His					JAG1_ENST00000423891.2_Missense_Mutation_p.P976H	p.P1135H	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN			26	3919	-			1135					A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.3404C>A	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144839	0.57044	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.85861	-2.02;-2.04	5.52	5.52	0.82312	.	0.050475	0.85682	D	0.000000	T	0.80644	0.4662	N	0.08118	0	0.80722	D	1	P	0.51240	0.943	P	0.49683	0.619	D	0.84549	0.0643	10	0.66056	D	0.02	.	19.8041	0.96521	0.0:0.0:1.0:0.0	.	1135	P78504	JAG1_HUMAN	H	1135;976	ENSP00000254958:P1135H;ENSP00000389519:P976H	ENSP00000254958:P1135H	P	-	2	0	JAG1	10568399	1.000000	0.71417	0.846000	0.33378	0.977000	0.68977	9.420000	0.97426	2.756000	0.94617	0.563000	0.77884	CCC		0.478	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_000214		5	163	5	163	---	---	---	---
NAA20	51126	broad.mit.edu	37	20	19998659	19998659	+	Intron	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:19998659C>A	ENST00000334982.4	+	1	334				NAA20_ENST00000484480.1_Intron|NAA20_ENST00000398602.2_De_novo_Start_InFrame|NAA20_ENST00000310450.4_Intron	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit							cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						CACTGCGTCCCCTGCAGCAGA	0.517																																						ENST00000398602.2																			0				endometrium(3)|lung(2)|prostate(1)	6								N(alpha)-acetyltransferase 20, NatB catalytic subunit							225.0	223.0	224.0					20																	19998659		2106	4234	6340	SO:0001627	intron_variant	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:19998659C>A	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.53+566C>A	20.37:g.19998659C>A						NAA20_ENST00000484480.1_Intron|NAA20_ENST00000334982.4_Intron|NAA20_ENST00000310450.4_Intron		NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN			0	626	+								A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Translation_Start_Site	SNP	ENST00000334982.4	37		CCDS13141.1																																																																																				0.517	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100		7	333	7	333	---	---	---	---
ZNF337	26152	broad.mit.edu	37	20	25666253	25666253	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:25666253C>A	ENST00000376436.1	-	3	739	c.200G>T	c.(199-201)gGg>gTg	p.G67V	ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.G67V|ZNF337_ENST00000538750.1_Intron			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	67	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGCACTTCCCCTTGCTCTAG	0.582																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(199-201)gGg>gTg		zinc finger protein 337							145.0	147.0	147.0					20																	25666253		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25666253C>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.200G>T	20.37:g.25666253C>A	ENSP00000365619:p.Gly67Val					ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000252979.5_Missense_Mutation_p.G67V|ZNF337_ENST00000538750.1_Intron	p.G67V							3	739	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.200G>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	14.22	2.469345	0.43839	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412	T;T	0.01015	5.44;5.44	1.85	1.85	0.25348	Krueppel-associated box (3);	.	.	.	.	T	0.03477	0.0100	M	0.71920	2.185	0.29455	N	0.858163	D	0.69078	0.997	P	0.62491	0.903	T	0.16394	-1.0404	9	0.66056	D	0.02	.	8.9989	0.36069	0.0:1.0:0.0:0.0	.	67	Q9Y3M9	ZN337_HUMAN	V	67	ENSP00000365619:G67V;ENSP00000252979:G67V	ENSP00000252979:G67V	G	-	2	0	ZNF337	25614253	0.000000	0.05858	0.010000	0.14722	0.521000	0.34408	0.114000	0.15520	0.850000	0.35239	0.461000	0.40582	GGG		0.582	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			6	350	6	350	---	---	---	---
DLGAP4	22839	broad.mit.edu	37	20	35071155	35071155	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:35071155C>A	ENST00000373907.2	+	5	1581	c.1382C>A	c.(1381-1383)cCc>cAc	p.P461H	DLGAP4_ENST00000401952.2_Missense_Mutation_p.P461H|DLGAP4_ENST00000373913.3_Missense_Mutation_p.P461H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P461H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	461					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TCCCTGATCCCCCAGTTGTTT	0.582																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1381-1383)cCc>cAc		discs, large (Drosophila) homolog-associated protein 4							629.0	592.0	605.0					20																	35071155		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35071155C>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1382C>A	20.37:g.35071155C>A	ENSP00000363014:p.Pro461His					DLGAP4_ENST00000373907.2_Missense_Mutation_p.P461H|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P461H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P461H	p.P461H			Q9Y2H0	DLGP4_HUMAN			6	1862	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	461					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.1382C>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.162984	0.78226	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.17691	2.26;2.26;2.76;2.76	5.33	5.33	0.75918	.	0.209202	0.33199	N	0.005180	T	0.17066	0.0410	N	0.08118	0	0.40674	D	0.982242	D	0.54207	0.965	P	0.53313	0.723	T	0.12243	-1.0555	10	0.51188	T	0.08	.	15.73	0.77794	0.0:1.0:0.0:0.0	.	461	Q9Y2H0-1	.	H	461	ENSP00000363023:P461H;ENSP00000384954:P461H;ENSP00000363014:P461H;ENSP00000341633:P461H	ENSP00000341633:P461H	P	+	2	0	DLGAP4	34504569	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.680000	0.61656	2.488000	0.83962	0.455000	0.32223	CCC		0.582	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		17	1554	17	1554	---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35627245	35627245	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:35627245G>T	ENST00000373664.3	-	22	3190	c.3124C>A	c.(3124-3126)Cct>Act	p.P1042T		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	1042					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CGTTTGGCAGGGGATTCTGCA	0.398																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(3124-3126)Cct>Act		retinoblastoma-like 1 (p107)							239.0	197.0	211.0					20																	35627245		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35627245G>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.3124C>A	20.37:g.35627245G>T	ENSP00000362768:p.Pro1042Thr						p.P1042T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			22	3190	-		Myeloproliferative disorder(115;0.00878)	1042					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.3124C>A	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352691	0.61293	.	.	ENSG00000080839	ENST00000373664	D	0.86865	-2.18	4.94	4.94	0.65067	Rb C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92935	0.7752	M	0.80746	2.51	0.80722	D	1	D	0.60575	0.988	P	0.61722	0.893	D	0.93280	0.6659	10	0.54805	T	0.06	-13.0256	18.3628	0.90380	0.0:0.0:1.0:0.0	.	1042	P28749	RBL1_HUMAN	T	1042	ENSP00000362768:P1042T	ENSP00000362768:P1042T	P	-	1	0	RBL1	35060659	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	7.788000	0.85771	2.559000	0.86315	0.591000	0.81541	CCT		0.398	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		7	204	7	204	---	---	---	---
RBL1	5933	broad.mit.edu	37	20	35668629	35668629	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:35668629G>T	ENST00000373664.3	-	14	1896	c.1830C>A	c.(1828-1830)ccC>ccA	p.P610P	RBL1_ENST00000344359.3_Silent_p.P610P	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	610	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTGGCATCAGGGGAAGATGTC	0.403																																						ENST00000373664.3																			0				NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42						c.(1828-1830)ccC>ccA		retinoblastoma-like 1 (p107)							135.0	124.0	128.0					20																	35668629		2203	4300	6503	SO:0001819	synonymous_variant	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35668629G>T	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1830C>A	20.37:g.35668629G>T						RBL1_ENST00000344359.3_Silent_p.P610P	p.P610P	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN			14	1896	-		Myeloproliferative disorder(115;0.00878)	610			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Silent	SNP	ENST00000373664.3	37	c.1830C>A	CCDS13289.1																																																																																				0.403	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		6	249	6	249	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37121612	37121612	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:37121612C>A	ENST00000262879.6	+	3	510	c.226C>A	c.(226-228)Ctt>Att	p.L76I	RALGAPB_ENST00000537204.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000397040.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.L76I			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	76					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGGACTGACCCTTCCATTGGA	0.353																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(226-228)Ctt>Att		Ral GTPase activating protein, beta subunit (non-catalytic)							181.0	182.0	181.0					20																	37121612		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37121612C>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.226C>A	20.37:g.37121612C>A	ENSP00000262879:p.Leu76Ile					RALGAPB_ENST00000397040.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000537204.1_Missense_Mutation_p.L76I|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.L76I	p.L76I			Q86X10	RLGPB_HUMAN			3	510	+			76					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.226C>A	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260681	0.95368	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000537204;ENST00000397040	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	D;D;D;D	0.77557	0.99;0.99;0.99;0.99	D	0.83641	0.0150	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	76;76;76;76	B4E2E8;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	I	76	.	ENSP00000262879:L76I	L	+	1	0	RALGAPB	36555026	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.070000	0.71220	2.941000	0.99782	0.655000	0.94253	CTT		0.353	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		6	363	6	363	---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39830761	39830761	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:39830761G>T	ENST00000309060.3	-	4	3211	c.2796C>A	c.(2794-2796)ccC>ccA	p.P932P	ZHX3_ENST00000540170.1_Silent_p.P932P|ZHX3_ENST00000432768.2_Silent_p.P932P|ZHX3_ENST00000560361.1_Silent_p.P932P|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Silent_p.P932P|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	932					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAGGGACACGGGGCTCCCACG	0.597																																						ENST00000309060.3																			0				endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2794-2796)ccC>ccA		zinc fingers and homeoboxes 3							92.0	84.0	87.0					20																	39830761		2203	4300	6503	SO:0001819	synonymous_variant	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39830761G>T	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.2796C>A	20.37:g.39830761G>T						ZHX3_ENST00000560361.1_Silent_p.P932P|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000540170.1_Silent_p.P932P|ZHX3_ENST00000432768.2_Silent_p.P932P|ZHX3_ENST00000559234.1_Silent_p.P932P	p.P932P			Q9H4I2	ZHX3_HUMAN			4	3211	-		Myeloproliferative disorder(115;0.00425)	932					E1P5W5|F5H820|O43145|Q6NUJ7	Silent	SNP	ENST00000309060.3	37	c.2796C>A	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	G	3.024	-0.201218	0.06219	.	.	ENSG00000174306	ENST00000421422	T	0.09538	2.97	6.02	-5.25	0.02781	.	0.510922	0.20501	N	0.091082	T	0.08935	0.0221	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32666	-0.9898	7	0.45353	T	0.12	-8.1547	0.5928	0.00731	0.3498:0.1777:0.1265:0.3459	.	.	.	.	T	641	ENSP00000405421:P641T	ENSP00000405421:P641T	P	-	1	0	ZHX3	39264175	.	.	0.004000	0.12327	0.950000	0.60333	.	.	-1.044000	0.03254	0.655000	0.94253	CCG		0.597	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	NM_015035		5	150	5	150	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40049243	40049243	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:40049243G>T	ENST00000373233.3	-	31	6209	c.6032C>A	c.(6031-6033)cCc>cAc	p.P2011H		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2011					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				AGGATATGTGGGGAAAACGTT	0.418																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(6031-6033)cCc>cAc		chromodomain helicase DNA binding protein 6							118.0	109.0	112.0					20																	40049243		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049243G>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6032C>A	20.37:g.40049243G>T	ENSP00000362330:p.Pro2011His						p.P2011H	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			31	6209	-		Myeloproliferative disorder(115;0.00425)	2011					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6032C>A	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	7.268	0.606535	0.14002	.	.	ENSG00000124177	ENST00000373233	D	0.85556	-2.0	6.07	3.07	0.35406	.	0.436913	0.21602	N	0.071926	T	0.75503	0.3858	L	0.36672	1.1	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.63359	-0.6655	10	0.45353	T	0.12	-1.2575	6.198	0.20559	0.0703:0.1338:0.6566:0.1393	.	2011	Q8TD26	CHD6_HUMAN	H	2011	ENSP00000362330:P2011H	ENSP00000362330:P2011H	P	-	2	0	CHD6	39482657	0.298000	0.24417	0.033000	0.17914	0.518000	0.34316	2.414000	0.44627	0.440000	0.26502	0.655000	0.94253	CCC		0.418	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			5	185	5	185	---	---	---	---
PABPC1L	80336	broad.mit.edu	37	20	43545423	43545423	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:43545423G>T	ENST00000217073.2	+	3	414	c.414G>T	c.(412-414)cgG>cgT	p.R138R	PABPC1L_ENST00000255136.3_Silent_p.R138R|PABPC1L_ENST00000217074.4_Silent_p.R138R|PABPC1L_ENST00000537323.1_Silent_p.R138R			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	138	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						ATGGCTCCCGGGGTTTCGGCT	0.557																																						ENST00000255136.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(412-414)cgG>cgT		poly(A) binding protein, cytoplasmic 1-like							152.0	137.0	142.0					20																	43545423		1568	3582	5150	SO:0001819	synonymous_variant	80336						nucleotide binding|RNA binding	g.chr20:43545423G>T	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.414G>T	20.37:g.43545423G>T						PABPC1L_ENST00000217073.2_Silent_p.R138R|PABPC1L_ENST00000537323.1_Silent_p.R138R|PABPC1L_ENST00000217074.4_Silent_p.R138R	p.R138R	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN			3	496	+			138			RRM 2.		Q4VY17	Silent	SNP	ENST00000217073.2	37	c.414G>T	CCDS42878.1																																																																																				0.557	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2			7	286	7	286	---	---	---	---
PLTP	5360	broad.mit.edu	37	20	44540149	44540149	+	5'UTR	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:44540149C>A	ENST00000477313.1	-	0	537				PLTP_ENST00000372420.1_5'Flank|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000542937.1_Start_Codon_SNP_p.M1I|PLTP_ENST00000372431.3_Intron|PLTP_ENST00000420868.2_Intron			P55058	PLTP_HUMAN	phospholipid transfer protein						lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CGCTTAAACCCATTCCTTGGA	0.587																																						ENST00000542937.1																			0				endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21						c.(1-3)atG>atT		phospholipid transfer protein																																				SO:0001623	5_prime_UTR_variant	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44540149C>A	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.-58G>T	20.37:g.44540149C>A						PLTP_ENST00000420868.2_Intron|PLTP_ENST00000477313.1_5'UTR|PLTP_ENST00000372431.3_Intron|PLTP_ENST00000354050.4_Intron	p.M1I			P55058	PLTP_HUMAN			1	537	-		Myeloproliferative disorder(115;0.0122)	0					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Translation_Start_Site	SNP	ENST00000477313.1	37	c.3G>T	CCDS13386.1	.	.	.	.	.	.	.	.	.	.	C	4.769	0.142934	0.09083	.	.	ENSG00000100979	ENST00000542937	T	0.07216	3.21	4.27	3.33	0.38152	.	.	.	.	.	T	0.05410	0.0143	.	.	.	0.37619	D	0.921237	B	0.02656	0.0	B	0.01281	0.0	T	0.33471	-0.9867	7	.	.	.	.	8.0351	0.30488	0.0:0.8879:0.0:0.1121	.	1	B3KUE5	.	I	1	ENSP00000440296:M1I	.	M	-	3	0	PLTP	43973556	0.000000	0.05858	0.141000	0.22245	0.281000	0.26958	0.082000	0.14847	1.148000	0.42385	0.563000	0.77884	ATG		0.587	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227		3	25	3	25	---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46262785	46262785	+	Intron	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:46262785C>A	ENST00000371998.3	+	10	1155				NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371997.3_Missense_Mutation_p.P330T|NCOA3_ENST00000341724.6_Missense_Mutation_p.P330T			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3						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						GATATTTTCCCCAACAGCTTA	0.403																																						ENST00000341724.6																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(988-990)Cca>Aca		nuclear receptor coactivator 3							108.0	102.0	104.0					20																	46262785		2203	4300	6503	SO:0001627	intron_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46262785C>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.965-7C>A	20.37:g.46262785C>A						NCOA3_ENST00000372004.3_Intron|NCOA3_ENST00000371998.3_Intron|NCOA3_ENST00000371997.3_Missense_Mutation_p.P330T	p.P330T			Q9Y6Q9	NCOA3_HUMAN			10	1249	+			321					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.988C>A	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.529993	0.27387	.	.	ENSG00000124151	ENST00000341724;ENST00000371997	T;T	0.01947	4.54;4.55	5.12	0.828	0.18841	.	.	.	.	.	T	0.01800	0.0057	N	0.14661	0.345	0.09310	N	1	B	0.23249	0.082	B	0.18871	0.023	T	0.46176	-0.9210	9	0.87932	D	0	.	9.5944	0.39565	0.0:0.6085:0.0:0.3915	.	330	Q9Y6Q9-3	.	T	330	ENSP00000342123:P330T;ENSP00000361065:P330T	ENSP00000342123:P330T	P	+	1	0	NCOA3	45696192	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	0.294000	0.19047	0.133000	0.18654	-0.982000	0.02568	CCA		0.403	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		6	259	6	259	---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50245576	50245576	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:50245576C>A	ENST00000338821.5	-	16	1968	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	ATP9A_ENST00000402822.1_Missense_Mutation_p.K447N|ATP9A_ENST00000311637.5_Missense_Mutation_p.K432N	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	568					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CATCTGCTCCCTTCATGTAAA	0.488																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1702-1704)aaG>aaT		ATPase, class II, type 9A							230.0	183.0	199.0					20																	50245576		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50245576C>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.1704G>T	20.37:g.50245576C>A	ENSP00000342481:p.Lys568Asn					ATP9A_ENST00000402822.1_Missense_Mutation_p.K447N|ATP9A_ENST00000311637.5_Missense_Mutation_p.K432N	p.K568N	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			16	1968	-			568					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.1704G>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.477113	0.63849	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.85861	-2.04;-2.04;-2.04	5.08	5.08	0.68730	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.058306	0.64402	D	0.000001	D	0.95310	0.8478	H	0.99487	4.59	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.77557	0.978;0.99	D	0.95643	0.8700	10	0.87932	D	0	-35.5118	9.3059	0.37874	0.0:0.8392:0.0:0.1608	.	447;568	O75110-2;O75110	.;ATP9A_HUMAN	N	432;568;447	ENSP00000309086:K432N;ENSP00000342481:K568N;ENSP00000385875:K447N	ENSP00000309086:K432N	K	-	3	2	ATP9A	49678983	0.998000	0.40836	1.000000	0.80357	0.911000	0.54048	0.677000	0.25262	2.335000	0.79485	0.563000	0.77884	AAG		0.488	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		5	255	5	255	---	---	---	---
APCDD1L	164284	broad.mit.edu	37	20	57036205	57036205	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr20:57036205C>A	ENST00000371149.3	-	4	1377	c.1147G>T	c.(1147-1149)Ggg>Tgg	p.G383W	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.G394W	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	383						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)			GACCAGGCCCCCGCACCCCCA	0.632																																						ENST00000371149.3																			0				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18						c.(1147-1149)Ggg>Tgg		adenomatosis polyposis coli down-regulated 1-like							50.0	56.0	54.0					20																	57036205		2203	4299	6502	SO:0001583	missense	164284					integral to membrane		g.chr20:57036205C>A	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.1147G>T	20.37:g.57036205C>A	ENSP00000360191:p.Gly383Trp					APCDD1L_ENST00000439429.1_Missense_Mutation_p.G394W|APCDD1L_ENST00000491015.1_5'UTR	p.G383W	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)		4	1377	-	Lung NSC(12;0.000856)|all_lung(29;0.0025)		383						Missense_Mutation	SNP	ENST00000371149.3	37	c.1147G>T	CCDS13467.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119440	0.56505	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.17213	2.29;2.29	4.35	4.35	0.52113	.	0.059585	0.64402	D	0.000003	T	0.44829	0.1312	M	0.85630	2.765	0.47276	D	0.999377	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.51671	-0.8676	10	0.87932	D	0	-30.4547	12.4846	0.55866	0.0:0.9153:0.0:0.0847	.	394;383	F5H6V6;Q8NCL9	.;APCDL_HUMAN	W	383;394	ENSP00000360191:G383W;ENSP00000413261:G394W	ENSP00000360191:G383W	G	-	1	0	APCDD1L	56469611	0.976000	0.34144	0.711000	0.30485	0.524000	0.34500	3.365000	0.52335	1.992000	0.58205	0.557000	0.71058	GGG		0.632	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000079881.2	NM_153360		5	111	5	111	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19716360	19716360	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:19716360G>T	ENST00000284885.3	-	11	1222	c.1189C>A	c.(1189-1191)Cca>Aca	p.P397T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	397	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGTCCAGTTGGGGTAGAAATG	0.393																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(1189-1191)Cca>Aca		transmembrane protease, serine 15							75.0	79.0	78.0					21																	19716360		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19716360G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1189C>A	21.37:g.19716360G>T	ENSP00000284885:p.Pro397Thr						p.P397T	NM_002772.2	NP_002763	P98073	ENTK_HUMAN			11	1222	-			397			MAM.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.1189C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511056	0.64522	.	.	ENSG00000154646	ENST00000284885	T	0.01981	4.52	5.27	5.27	0.74061	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.14313	0.0346	M	0.84683	2.71	0.48452	D	0.999654	D	0.76494	0.999	D	0.70716	0.97	T	0.00130	-1.2014	9	.	.	.	.	16.4081	0.83697	0.0:0.0:1.0:0.0	.	397	P98073	ENTK_HUMAN	T	397	ENSP00000284885:P397T	.	P	-	1	0	TMPRSS15	18638231	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	4.964000	0.63701	2.633000	0.89246	0.460000	0.39030	CCA		0.393	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		6	215	6	215	---	---	---	---
KRTAP11-1	337880	broad.mit.edu	37	21	32253560	32253560	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:32253560G>T	ENST00000332378.4	-	1	314	c.284C>A	c.(283-285)cCc>cAc	p.P95H		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	95						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.P95H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AGTTGAGCAGGGGTTGGAAAT	0.572																																						ENST00000332378.4																			1	Substitution - Missense(1)	p.P95H(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						c.(283-285)cCc>cAc		keratin associated protein 11-1							85.0	83.0	84.0					21																	32253560		2203	4300	6503	SO:0001583	missense	337880					keratin filament	structural molecule activity	g.chr21:32253560G>T	AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.284C>A	21.37:g.32253560G>T	ENSP00000330720:p.Pro95His						p.P95H	NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN			1	314	-			95					A1L4I8	Missense_Mutation	SNP	ENST00000332378.4	37	c.284C>A	CCDS13608.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135079	0.56828	.	.	ENSG00000182591	ENST00000332378	T	0.04654	3.58	5.4	5.4	0.78164	.	0.922491	0.09256	N	0.827275	T	0.29524	0.0736	M	0.87547	2.89	0.40130	D	0.976708	D	0.89917	1.0	D	0.79108	0.992	T	0.00724	-1.1593	10	0.62326	D	0.03	-19.5167	17.0969	0.86637	0.0:0.0:1.0:0.0	.	95	Q8IUC1	KR111_HUMAN	H	95	ENSP00000330720:P95H	ENSP00000330720:P95H	P	-	2	0	KRTAP11-1	31175431	1.000000	0.71417	0.879000	0.34478	0.534000	0.34807	4.048000	0.57390	2.722000	0.93159	0.650000	0.86243	CCC		0.572	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128225.1			4	71	4	71	---	---	---	---
SON	6651	broad.mit.edu	37	21	34922453	34922453	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:34922453C>A	ENST00000356577.4	+	3	1391	c.916C>A	c.(916-918)Ctt>Att	p.L306I	SON_ENST00000300278.4_Missense_Mutation_p.L306I|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.L306I|SON_ENST00000290239.6_Missense_Mutation_p.L306I	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	306					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTCAGAAACCCTTGTGGTATC	0.463											OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(916-918)Ctt>Att		SON DNA binding protein							72.0	70.0	71.0					21																	34922453		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34922453C>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.916C>A	21.37:g.34922453C>A	ENSP00000348984:p.Leu306Ile		OREG0003564	type=REGULATORY REGION|Gene=AK074269|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	851	SON_ENST00000381679.4_Missense_Mutation_p.L306I|SON_ENST00000300278.4_Missense_Mutation_p.L306I|SON_ENST00000290239.6_Missense_Mutation_p.L306I|SON_ENST00000381692.2_Intron	p.L306I	NM_138927.1	NP_620305	P18583	SON_HUMAN			3	1391	+			306					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.916C>A	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869737	0.33069	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.13089	2.79;2.79;2.79;2.62	5.54	1.0	0.19881	.	0.830232	0.10642	N	0.650892	T	0.11110	0.0271	N	0.24115	0.695	0.09310	N	1	D;D;P	0.57257	0.964;0.979;0.919	B;P;B	0.50109	0.428;0.631;0.255	T	0.21793	-1.0235	10	0.30854	T	0.27	.	3.6828	0.08317	0.0:0.476:0.1855:0.3385	.	306;306;306	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	I	306	ENSP00000348984:L306I;ENSP00000290239:L306I;ENSP00000300278:L306I;ENSP00000371095:L306I	ENSP00000290239:L306I	L	+	1	0	SON	33844323	0.002000	0.14202	0.473000	0.27253	0.997000	0.91878	-0.000000	0.12993	0.366000	0.24427	0.561000	0.74099	CTT		0.463	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		4	139	4	139	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35247673	35247673	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:35247673C>A	ENST00000381318.3	+	34	4477	c.4189C>A	c.(4189-4191)Cct>Act	p.P1397T	ITSN1_ENST00000381285.4_Missense_Mutation_p.P1397T|ITSN1_ENST00000437442.2_Intron|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.P1392T|ITSN1_ENST00000399326.3_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1397	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAAAACACCCCTGAAAACCA	0.577																																						ENST00000381318.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(4189-4191)Cct>Act		intersectin 1 (SH3 domain protein)							82.0	74.0	77.0					21																	35247673		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35247673C>A	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.4189C>A	21.37:g.35247673C>A	ENSP00000370719:p.Pro1397Thr					AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.P1392T|ITSN1_ENST00000381285.4_Missense_Mutation_p.P1397T|ITSN1_ENST00000399326.3_3'UTR	p.P1397T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN			34	4477	+			1397			DH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.4189C>A	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004407	0.74932	.	.	ENSG00000205726	ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000415023	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.59	5.59	0.84812	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	M	0.86651	2.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.73248	-0.4043	10	0.87932	D	0	.	19.5863	0.95490	0.0:1.0:0.0:0.0	.	1392;1397	A8CTX8;Q15811	.;ITSN1_HUMAN	T	1397;1397;1326;1392;4	ENSP00000370719:P1397T;ENSP00000370685:P1397T;ENSP00000382301:P1392T;ENSP00000409800:P4T	ENSP00000370685:P1397T	P	+	1	0	ITSN1	34169543	0.997000	0.39634	0.988000	0.46212	0.915000	0.54546	3.686000	0.54685	2.621000	0.88768	0.655000	0.94253	CCT		0.577	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		5	106	5	106	---	---	---	---
SLC5A3	6526	broad.mit.edu	37	21	35467811	35467811	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:35467811G>T	ENST00000381151.3	+	2	826	c.314G>T	c.(313-315)gGg>gTg	p.G105V	SLC5A3_ENST00000608209.1_Missense_Mutation_p.G105V|MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	105					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATCCGGTCAGGGGTATATACC	0.453																																						ENST00000608209.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(313-315)gGg>gTg		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							184.0	180.0	181.0					21																	35467811		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35467811G>T		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.314G>T	21.37:g.35467811G>T	ENSP00000370543:p.Gly105Val					SLC5A3_ENST00000381151.3_Missense_Mutation_p.G105V|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron	p.G105V	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	826	+								O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.314G>T	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.088655	0.55968	.	.	ENSG00000198743	ENST00000381151	D	0.91124	-2.79	5.92	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.96784	0.8950	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97962	1.0338	10	0.87932	D	0	.	15.9157	0.79517	0.0:0.1355:0.8645:0.0	.	105	P53794	SC5A3_HUMAN	V	105	ENSP00000370543:G105V	ENSP00000370543:G105V	G	+	2	0	SLC5A3	34389681	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.858000	0.99539	1.495000	0.48549	0.609000	0.83330	GGG		0.453	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			13	421	13	421	---	---	---	---
SLC5A3	6526	broad.mit.edu	37	21	35468305	35468305	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:35468305C>A	ENST00000381151.3	+	2	1320	c.808C>A	c.(808-810)Cca>Aca	p.P270T	SLC5A3_ENST00000608209.1_Missense_Mutation_p.P270T|MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	270					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGGCAGACCCCAGCTTCAGT	0.483																																						ENST00000608209.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						c.(808-810)Cca>Aca		solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							99.0	94.0	96.0					21																	35468305		2203	4300	6503	SO:0001583	missense	6526					integral to plasma membrane	myo-inositol:sodium symporter activity	g.chr21:35468305C>A		CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.808C>A	21.37:g.35468305C>A	ENSP00000370543:p.Pro270Thr					SLC5A3_ENST00000381151.3_Missense_Mutation_p.P270T|AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron	p.P270T	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN			2	1320	+								O43489	Missense_Mutation	SNP	ENST00000381151.3	37	c.808C>A	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211246	0.58343	.	.	ENSG00000198743	ENST00000381151	D	0.87650	-2.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.87529	0.6200	L	0.53617	1.68	0.58432	D	0.999999	P	0.45240	0.854	P	0.44772	0.46	D	0.87847	0.2655	10	0.52906	T	0.07	.	18.663	0.91478	0.0:1.0:0.0:0.0	.	270	P53794	SC5A3_HUMAN	T	270	ENSP00000370543:P270T	ENSP00000370543:P270T	P	+	1	0	SLC5A3	34390175	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	7.818000	0.86416	2.699000	0.92147	0.609000	0.83330	CCA		0.483	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1			6	199	6	199	---	---	---	---
DSCR10	259234	broad.mit.edu	37	21	39580507	39580507	+	lincRNA	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:39580507C>A	ENST00000432141.1	+	0	629					NR_027695.1		P59022	DSC10_HUMAN	Down syndrome critical region gene 10 (non-protein coding)																		CAAGCTGTCCCCGTGTGTATG	0.483																																						ENST00000432141.1																			0																				340.0	315.0	323.0					21																	39580507		2203	4300	6503			259234							g.chr21:39580507C>A	AB066291		21q22.13	2012-10-16	2011-02-24		ENSG00000233316	ENSG00000233316		"""Long non-coding RNAs"""	16302	non-coding RNA	RNA, long non-coding			"""Down syndrome critical region gene 10"""			12168953	Standard	NR_027695		Approved		uc010gnt.2	P59022	OTTHUMG00000090611		21.37:g.39580507C>A								NR_027695.1						0	629	+								Q52LN2	RNA	SNP	ENST00000432141.1	37																																																																																						0.483	DSCR10-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000207199.1	NR_027695.1		10	718	10	718	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43541262	43541262	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:43541262G>T	ENST00000408910.2	+	16	2755	c.2755G>T	c.(2755-2757)Ggg>Tgg	p.G919W	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1047W|UMODL1_ENST00000400427.1_Missense_Mutation_p.G975W|UMODL1_ENST00000400424.2_Missense_Mutation_p.G847W	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	919	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						AAACACCCTCGGGTCTTTCAC	0.498																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400424.2																			0				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						c.(2539-2541)Ggg>Tgg		uromodulin-like 1							120.0	123.0	122.0					21																	43541262		1891	4114	6005	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43541262G>T		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.2755G>T	21.37:g.43541262G>T	ENSP00000386147:p.Gly919Trp					UMODL1_ENST00000408910.2_Missense_Mutation_p.G919W|UMODL1_ENST00000400427.1_Missense_Mutation_p.G975W|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1047W	p.G847W	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN			16	2935	+						SEA 2.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2539G>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075531	0.36662	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	D;D;D;D	0.99563	-6.17;-6.17;-6.17;-6.17	3.87	3.87	0.44632	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.45867	D	0.000325	D	0.99687	0.9882	H	0.94771	3.58	0.28300	N	0.923132	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.985	D	0.96513	0.9380	9	.	.	.	-20.3246	13.6932	0.62559	0.0:0.0:1.0:0.0	.	1047;919	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	W	975;847;1047;919	ENSP00000383279:G975W;ENSP00000383276:G847W;ENSP00000386126:G1047W;ENSP00000386147:G919W	.	G	+	1	0	UMODL1	42414331	0.999000	0.42202	0.201000	0.23476	0.249000	0.25844	5.039000	0.64185	2.471000	0.83476	0.449000	0.29647	GGG		0.498	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	225	5	225	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43543034	43543034	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:43543034C>A	ENST00000408910.2	+	17	2921	c.2921C>A	c.(2920-2922)cCc>cAc	p.P974H	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.P1102H|UMODL1_ENST00000400427.1_Missense_Mutation_p.P1030H|UMODL1_ENST00000400424.2_Missense_Mutation_p.P902H	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	974					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						GGCACCAGCCCCACCCCCCAA	0.632																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	ENST00000400424.2																			0				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						c.(2704-2706)cCc>cAc		uromodulin-like 1							48.0	53.0	51.0					21																	43543034		2054	4202	6256	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43543034C>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.2921C>A	21.37:g.43543034C>A	ENSP00000386147:p.Pro974His					UMODL1_ENST00000408910.2_Missense_Mutation_p.P974H|UMODL1_ENST00000400427.1_Missense_Mutation_p.P1030H|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.P1102H	p.P902H	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN			17	3101	+						EGF-like 3; calcium-binding (Potential).		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.2705C>A	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665188	0.29604	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.73152	-0.71;-0.72;-0.71;-0.71	2.93	-0.00552	0.14017	.	1.303970	0.05746	N	0.602271	T	0.61350	0.2340	N	0.24115	0.695	0.09310	N	1	D;P	0.55385	0.971;0.883	P;B	0.50490	0.642;0.438	T	0.51505	-0.8697	9	.	.	.	-2.2309	3.8143	0.08809	0.1903:0.5886:0.0:0.2211	.	1102;974	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	H	1030;902;1102;974	ENSP00000383279:P1030H;ENSP00000383276:P902H;ENSP00000386126:P1102H;ENSP00000386147:P974H	.	P	+	2	0	UMODL1	42416103	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.654000	0.05354	-0.012000	0.14223	0.297000	0.19635	CCC		0.632	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			5	58	5	58	---	---	---	---
ADARB1	104	broad.mit.edu	37	21	46642109	46642109	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:46642109C>A	ENST00000360697.3	+	10	2238	c.2223C>A	c.(2221-2223)ccC>ccA	p.P741P	ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000389863.4_Intron|ADARB1_ENST00000539173.1_Silent_p.P741P|ADARB1_ENST00000348831.4_Silent_p.P701P			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	741					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CACTCACGCCCTGACCCGGGC	0.652																																						ENST00000539173.1																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17						c.(2221-2223)ccC>ccA		adenosine deaminase, RNA-specific, B1							24.0	21.0	22.0					21																	46642109		2200	4298	6498	SO:0001819	synonymous_variant	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46642109C>A	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.2223C>A	21.37:g.46642109C>A						ADARB1_ENST00000360697.3_Silent_p.P741P|ADARB1_ENST00000389863.4_Intron|ADARB1_ENST00000348831.4_Silent_p.P701P|ADARB1_ENST00000437626.1_3'UTR	p.P741P	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN		Colorectal(79;0.115)	12	2658	+			741					A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Silent	SNP	ENST00000360697.3	37	c.2223C>A	CCDS33589.1																																																																																				0.652	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		4	27	4	27	---	---	---	---
LSS	4047	broad.mit.edu	37	21	47615609	47615609	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:47615609C>A	ENST00000397728.3	-	19	1876	c.1798G>T	c.(1798-1800)Ggg>Tgg	p.G600W	LSS_ENST00000522411.1_Missense_Mutation_p.G589W|LSS_ENST00000356396.4_Missense_Mutation_p.G600W|LSS_ENST00000457828.2_Missense_Mutation_p.G520W|AP001468.1_ENST00000594486.1_5'Flank	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	600					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TAGGTCTGCCCCATACAGGCG	0.577																																					Pancreas(114;955 2313 34923 50507)	ENST00000397728.3																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21						c.(1798-1800)Ggg>Tgg		lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)							127.0	109.0	115.0					21																	47615609		2203	4300	6503	SO:0001583	missense	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47615609C>A	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1798G>T	21.37:g.47615609C>A	ENSP00000380837:p.Gly600Trp					LSS_ENST00000522411.1_Missense_Mutation_p.G589W|LSS_ENST00000356396.4_Missense_Mutation_p.G600W|LSS_ENST00000457828.2_Missense_Mutation_p.G520W	p.G600W	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN			19	1876	-	Breast(49;0.214)		600					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	ENST00000397728.3	37	c.1798G>T	CCDS13733.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351284	0.61183	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.61	4.67	0.58626	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.095198	0.64402	D	0.000001	T	0.77491	0.4138	H	0.98295	4.195	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.86107	0.1560	10	0.87932	D	0	.	15.0033	0.71492	0.0:0.7783:0.2217:0.0	.	589;600	E9PEI9;P48449	.;ERG7_HUMAN	W	600;520;600;589	ENSP00000348762:G600W;ENSP00000409191:G520W;ENSP00000380837:G600W;ENSP00000429133:G589W	ENSP00000348762:G600W	G	-	1	0	LSS	46440037	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	4.656000	0.61483	2.633000	0.89246	0.655000	0.94253	GGG		0.577	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			5	121	5	121	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47957170	47957170	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr21:47957170G>T	ENST00000417564.2	+	14	1697	c.1676G>T	c.(1675-1677)aGg>aTg	p.R559M	Metazoa_SRP_ENST00000607098.1_RNA|DIP2A_ENST00000318711.7_Missense_Mutation_p.R560M|DIP2A_ENST00000466639.1_Missense_Mutation_p.R516M|DIP2A_ENST00000435722.3_Missense_Mutation_p.R559M|DIP2A_ENST00000427143.2_Missense_Mutation_p.R495M|DIP2A_ENST00000400274.1_Missense_Mutation_p.R555M|DIP2A_ENST00000457905.3_Missense_Mutation_p.R559M			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	559					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GATTTCAAAAGGGATGCTGGT	0.458																																						ENST00000318711.7																			0				cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1678-1680)aGg>aTg		DIP2 disco-interacting protein 2 homolog A (Drosophila)							298.0	305.0	303.0					21																	47957170		2113	4236	6349	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47957170G>T	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1676G>T	21.37:g.47957170G>T	ENSP00000392066:p.Arg559Met					DIP2A_ENST00000417564.2_Missense_Mutation_p.R559M|DIP2A_ENST00000427143.2_Missense_Mutation_p.R495M|DIP2A_ENST00000457905.3_Missense_Mutation_p.R559M|DIP2A_ENST00000435722.3_Missense_Mutation_p.R559M|DIP2A_ENST00000400274.1_Missense_Mutation_p.R555M|DIP2A_ENST00000466639.1_Missense_Mutation_p.R516M	p.R560M	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	14	1862	+	Breast(49;0.0933)		559					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.1679G>T	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679913	0.88542	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.44	5.44	0.79542	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.69780	0.3149	M	0.85542	2.76	0.80722	D	1	D;D;D;D;D;P	0.89917	0.984;0.998;1.0;0.985;0.998;0.903	D;D;D;D;D;P	0.91635	0.95;0.98;0.999;0.934;0.967;0.557	T	0.74447	-0.3662	10	0.66056	D	0.02	-30.4344	18.2394	0.89961	0.0:0.0:1.0:0.0	.	560;495;516;559;559;559	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	M	555;495;560;516;559;516;559;559	ENSP00000383133:R555M;ENSP00000400528:R495M;ENSP00000323633:R560M;ENSP00000393434:R559M;ENSP00000430249:R516M;ENSP00000415089:R559M;ENSP00000392066:R559M	ENSP00000323633:R560M	R	+	2	0	DIP2A	46781598	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.616000	0.46376	2.554000	0.86153	0.591000	0.81541	AGG		0.458	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		7	514	7	514	---	---	---	---
MRPL40	64976	broad.mit.edu	37	22	19423373	19423373	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:19423373C>A	ENST00000333130.3	+	4	1162	c.509C>A	c.(508-510)cCc>cAc	p.P170H	HIRA_ENST00000541063.1_Intron|HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000443660.1_3'UTR	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	170					anatomical structure morphogenesis (GO:0009653)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					AACCTGTTCCCCTTTGAGAAG	0.542																																						ENST00000333130.3																			0				endometrium(1)|upper_aerodigestive_tract(1)	2						c.(508-510)cCc>cAc		mitochondrial ribosomal protein L40							143.0	128.0	133.0					22																	19423373		2203	4300	6503	SO:0001583	missense	64976				anatomical structure morphogenesis	mitochondrial ribosome|nucleus		g.chr22:19423373C>A	AB051624	CCDS13760.1	22q11.2	2012-09-13	2002-11-13		ENSG00000185608	ENSG00000185608		"""Mitochondrial ribosomal proteins / large subunits"""	14491	protein-coding gene	gene with protein product		605089	"""nuclear localization signal deleted in velocardiofacial syndrome"""	NLVCF		9790763, 11543634	Standard	NM_003776		Approved	MRP-L22	uc002zpg.3	Q9NQ50	OTTHUMG00000150136	ENST00000333130.3:c.509C>A	22.37:g.19423373C>A	ENSP00000333401:p.Pro170His					HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron	p.P170H	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN			4	1162	+	Colorectal(54;0.0993)		170					B3KVZ7|O95134	Missense_Mutation	SNP	ENST00000333130.3	37	c.509C>A	CCDS13760.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265961	0.80358	.	.	ENSG00000185608	ENST00000333130	T	0.81415	-1.49	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.91925	0.7443	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93013	0.6433	10	0.87932	D	0	-17.8039	19.2614	0.93970	0.0:1.0:0.0:0.0	.	170	Q9NQ50	RM40_HUMAN	H	170	ENSP00000333401:P170H	ENSP00000333401:P170H	P	+	2	0	MRPL40	17803373	1.000000	0.71417	0.999000	0.59377	0.548000	0.35241	7.064000	0.76721	2.769000	0.95229	0.655000	0.94253	CCC		0.542	MRPL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316491.2	NM_003776		4	80	4	80	---	---	---	---
CDC45	8318	broad.mit.edu	37	22	19504130	19504130	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:19504130G>T	ENST00000407835.1	+	17	1777	c.1521G>T	c.(1519-1521)gtG>gtT	p.V507V	CDC45_ENST00000404724.3_Silent_p.V461V|CDC45_ENST00000263201.1_Silent_p.V507V|CDC45_ENST00000437685.2_Silent_p.V539V			O75419	CDC45_HUMAN	cell division cycle 45	507					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGACCGTGGTGGGCATCCCCC	0.612																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(1519-1521)gtG>gtT		cell division cycle 45							62.0	64.0	63.0					22																	19504130		2203	4300	6503	SO:0001819	synonymous_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|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	centrosome|nucleoplasm	protein binding	g.chr22:19504130G>T	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.1521G>T	22.37:g.19504130G>T						CDC45_ENST00000437685.2_Silent_p.V539V|CDC45_ENST00000404724.3_Silent_p.V461V|CDC45_ENST00000263201.1_Silent_p.V507V	p.V507V			O75419	CDC45_HUMAN			17	1777	+			507					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.1521G>T	CCDS13762.1																																																																																				0.612	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		4	60	4	60	---	---	---	---
IGLV2-11	28816	broad.mit.edu	37	22	23135371	23135371	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:23135371G>T	ENST00000390314.2	+	0	275				D86998.1_ENST00000385098.1_RNA					immunoglobulin lambda variable 2-11																		CGGCCCTCAGGGGTCCCTGAT	0.537																																						ENST00000390314.2																			0																				225.0	216.0	218.0					22																	23135371		1890	4118	6008			28816							g.chr22:23135371G>T	Z73657		22q11.2	2012-02-08			ENSG00000211668	ENSG00000211668		"""Immunoglobulins / IGL locus"""	5887	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151236		22.37:g.23135371G>T														0	275	+									RNA	SNP	ENST00000390314.2	37																																																																																						0.537	IGLV2-11-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321841.1	NG_000002		8	511	8	511	---	---	---	---
IGLV2-8	28817	broad.mit.edu	37	22	23165662	23165662	+	RNA	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:23165662G>T	ENST00000390317.2	+	0	395				MIR650_ENST00000385101.1_RNA					immunoglobulin lambda variable 2-8																		CGGCCCTCAGGGGTCCCTGAT	0.552																																						ENST00000390317.2																			0																				207.0	203.0	204.0					22																	23165662		1875	4089	5964			28817							g.chr22:23165662G>T	X97462		22q11.2	2012-02-08			ENSG00000211671	ENSG00000278196		"""Immunoglobulins / IGL locus"""	5895	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151240		22.37:g.23165662G>T														0	395	+									RNA	SNP	ENST00000390317.2	37																																																																																						0.552	IGLV2-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321845.1	NG_000002		8	458	8	458	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26688975	26688975	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:26688975C>A	ENST00000248933.6	+	2	793	c.698C>A	c.(697-699)cCc>cAc	p.P233H	SEZ6L_ENST00000360929.3_Missense_Mutation_p.P233H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000529632.2_Missense_Mutation_p.P233H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P233H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P233H			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	233					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGGAGGCCCCCCAGGAGGAC	0.632																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(697-699)cCc>cAc		seizure related 6 homolog (mouse)-like							33.0	35.0	35.0					22																	26688975		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26688975C>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.698C>A	22.37:g.26688975C>A	ENSP00000248933:p.Pro233His					SEZ6L_ENST00000403121.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P233H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P6H|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P233H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P233H|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P233H	p.P233H	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN			2	894	+			233					A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.698C>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853971	0.51270	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.29917	1.86;1.99;2.04;1.88;1.62;1.55;1.78	4.73	3.71	0.42584	.	1.239710	0.06037	N	0.654145	T	0.27384	0.0672	N	0.08118	0	0.35387	D	0.790415	D;P;B;D;D;P;P	0.64830	0.97;0.927;0.07;0.963;0.994;0.856;0.856	P;P;B;P;P;B;B	0.52856	0.498;0.498;0.112;0.621;0.711;0.417;0.417	T	0.16424	-1.0403	10	0.15499	T	0.54	.	12.4202	0.55516	0.0:0.9176:0.0:0.0824	.	233;233;6;233;233;233;233	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	H	233;233;233;233;233;6;6	ENSP00000384772:P233H;ENSP00000437037:P233H;ENSP00000354185:P233H;ENSP00000248933:P233H;ENSP00000342661:P233H;ENSP00000384838:P6H;ENSP00000384733:P6H	ENSP00000248933:P233H	P	+	2	0	SEZ6L	25018975	0.068000	0.21057	0.001000	0.08648	0.018000	0.09664	4.610000	0.61155	1.116000	0.41820	0.508000	0.49915	CCC		0.632	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			4	73	4	73	---	---	---	---
SRRD	402055	broad.mit.edu	37	22	26884425	26884425	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:26884425C>A	ENST00000215917.7	+	4	594	c.580C>A	c.(580-582)Ctt>Att	p.L194I		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	194					rhythmic process (GO:0048511)			p.L194I(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTTAACACCCTTGGTGTGAC	0.458																																						ENST00000215917.7																			1	Substitution - Missense(1)	p.L194I(1)	lung(1)	endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(580-582)Ctt>Att		SRR1 domain containing							159.0	158.0	158.0					22																	26884425		1918	4127	6045	SO:0001583	missense	402055				rhythmic process			g.chr22:26884425C>A	BC066962	CCDS42995.1	22q12.1	2008-10-31			ENSG00000100104	ENSG00000100104			33910	protein-coding gene	gene with protein product	"""hepatocellular carcinoma complicating hemochromatosis"""	602254					Standard	NM_001013694		Approved	HC/HCC, SRR1L	uc010gve.3	Q9UH36	OTTHUMG00000150885	ENST00000215917.7:c.580C>A	22.37:g.26884425C>A	ENSP00000215917:p.Leu194Ile						p.L194I	NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN			4	594	+								Q6NXP8	Missense_Mutation	SNP	ENST00000215917.7	37	c.580C>A	CCDS42995.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445135	0.83993	.	.	ENSG00000100104	ENST00000215917	T	0.58210	0.35	5.26	4.23	0.50019	Sensitivity To Red Light Reduced-like, SRR1 (1);	0.069112	0.64402	D	0.000014	T	0.69233	0.3088	M	0.76574	2.34	0.49213	D	0.999764	D;D	0.69078	0.997;0.997	D;D	0.71870	0.975;0.975	T	0.69815	-0.5043	10	0.48119	T	0.1	-22.7721	13.085	0.59135	0.0:0.9206:0.0:0.0794	.	194;187	Q9UH36;B4DF37	SRR1L_HUMAN;.	I	194	ENSP00000215917:L194I	ENSP00000215917:L194I	L	+	1	0	SRRD	25214425	0.976000	0.34144	0.445000	0.26908	0.235000	0.25334	2.423000	0.44705	2.734000	0.93682	0.655000	0.94253	CTT		0.458	SRRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320423.2	NM_001013694		6	307	6	307	---	---	---	---
CRYBA4	1413	broad.mit.edu	37	22	27021546	27021546	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:27021546C>A	ENST00000354760.3	+	4	295	c.260C>A	c.(259-261)cCc>cAc	p.P87H	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	87	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						ACGGCCTACCCCGCCGAGAGG	0.632																																						ENST00000354760.3																			0				large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.(259-261)cCc>cAc		crystallin, beta A4							113.0	115.0	114.0					22																	27021546		2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27021546C>A		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.260C>A	22.37:g.27021546C>A	ENSP00000346805:p.Pro87His					CRYBA4_ENST00000466315.1_3'UTR	p.P87H	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN			4	295	+			87			Beta/gamma crystallin 'Greek key' 2.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.260C>A	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	C	0.736	-0.778078	0.02929	.	.	ENSG00000196431	ENST00000354760	T	0.75704	-0.96	4.43	3.35	0.38373	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.113351	0.64402	D	0.000016	T	0.31136	0.0787	N	0.00096	-2.155	0.40220	D	0.977726	B	0.02656	0.0	B	0.06405	0.002	T	0.37820	-0.9689	10	0.23891	T	0.37	.	8.9977	0.36063	0.3317:0.6683:0.0:0.0	.	87	P53673	CRBA4_HUMAN	H	87	ENSP00000346805:P87H	ENSP00000346805:P87H	P	+	2	0	CRYBA4	25351546	0.997000	0.39634	0.928000	0.36995	0.006000	0.05464	3.632000	0.54287	2.304000	0.77564	0.561000	0.74099	CCC		0.632	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886		7	202	7	202	---	---	---	---
THOC5	8563	broad.mit.edu	37	22	29907141	29907141	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:29907141C>A	ENST00000490103.1	-	19	2064	c.1942G>T	c.(1942-1944)Ggg>Tgg	p.G648W	THOC5_ENST00000397871.1_Missense_Mutation_p.G648W|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397873.2_Missense_Mutation_p.G648W|THOC5_ENST00000397872.1_Missense_Mutation_p.G648W	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	648					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCTTGGGCCCCTCCACACTG	0.587																																						ENST00000490103.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1942-1944)Ggg>Tgg		THO complex 5							112.0	103.0	106.0					22																	29907141		2203	4300	6503	SO:0001583	missense	8563				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding	g.chr22:29907141C>A	AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1942G>T	22.37:g.29907141C>A	ENSP00000420306:p.Gly648Trp					THOC5_ENST00000397871.1_Missense_Mutation_p.G648W|THOC5_ENST00000397872.1_Missense_Mutation_p.G648W|THOC5_ENST00000397873.2_Missense_Mutation_p.G648W	p.G648W	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN			19	2064	-			648					O60839|Q9UPZ5	Missense_Mutation	SNP	ENST00000490103.1	37	c.1942G>T	CCDS13859.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148862	0.94645	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.53238	0.1784	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.48422	-0.9037	10	0.87932	D	0	-32.6814	20.4549	0.99139	0.0:1.0:0.0:0.0	.	648	Q13769	THOC5_HUMAN	W	648	ENSP00000420306:G648W;ENSP00000380970:G648W;ENSP00000380969:G648W;ENSP00000380971:G648W	ENSP00000380969:G648W	G	-	1	0	THOC5	28237141	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.598000	0.82745	2.937000	0.99478	0.650000	0.86243	GGG		0.587	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322097.1	NM_003678		5	175	5	175	---	---	---	---
NF2	4771	broad.mit.edu	37	22	30057273	30057273	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:30057273C>A	ENST00000338641.4	+	8	1196	c.755C>A	c.(754-756)cCc>cAc	p.P252H	NF2_ENST00000334961.7_Missense_Mutation_p.P169H|NF2_ENST00000361452.4_Missense_Mutation_p.P211H|NF2_ENST00000353887.4_Missense_Mutation_p.P169H|NF2_ENST00000361166.4_Missense_Mutation_p.P252H|NF2_ENST00000403435.1_Missense_Mutation_p.P252H|NF2_ENST00000347330.5_Missense_Mutation_p.P93H|NF2_ENST00000413209.2_Intron|NF2_ENST00000361676.4_Missense_Mutation_p.P210H|NF2_ENST00000397789.3_Missense_Mutation_p.P252H|NF2_ENST00000403999.3_Missense_Mutation_p.P252H	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	252	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.R249fs*8(1)|p.D245fs*31(1)|p.N226_E270del(1)|p.L232_P257del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AGACTGACCCCCAAGATCTCC	0.498			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													ENST00000338641.4			yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	"""D, Mis, N, F, S, O"""	neurofibromatosis type 2 gene			O		"""meningioma, acoustic neuroma"""	"""meningioma, acoustic neuroma, renal """		7	Unknown(3)|Deletion - In frame(2)|Complex - frameshift(1)|Deletion - Frameshift(1)	p.?(3)|p.R249fs*8(1)|p.D245fs*31(1)|p.N226_E270del(1)|p.L232_P257del(1)	soft_tissue(3)|meninges(1)|large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						c.(754-756)cCc>cAc		neurofibromin 2 (merlin)							126.0	118.0	120.0					22																	30057273		2203	4300	6503	SO:0001583	missense	4771	Neurofibromatosis, type 2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30057273C>A	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.755C>A	22.37:g.30057273C>A	ENSP00000344666:p.Pro252His					NF2_ENST00000347330.5_Missense_Mutation_p.P93H|NF2_ENST00000403999.3_Missense_Mutation_p.P252H|NF2_ENST00000361676.4_Missense_Mutation_p.P210H|NF2_ENST00000334961.7_Missense_Mutation_p.P169H|NF2_ENST00000397789.3_Missense_Mutation_p.P252H|NF2_ENST00000403435.1_Missense_Mutation_p.P252H|NF2_ENST00000361452.4_Missense_Mutation_p.P211H|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Missense_Mutation_p.P169H|NF2_ENST00000361166.4_Missense_Mutation_p.P252H	p.P252H	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN			8	1196	+			252			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	c.755C>A	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311100	0.95629	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.81	5.81	0.92471	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.049797	0.85682	D	0.000000	D	0.93239	0.7846	M	0.82716	2.605	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.994;0.998;0.997	D	0.92671	0.6150	9	.	.	.	.	20.0795	0.97766	0.0:1.0:0.0:0.0	.	211;252;252;210;169;252	P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;MERL_HUMAN;.;.;.;.	H	93;252;252;211;252;252;169;169;252;210;252	ENSP00000335160:P93H;ENSP00000344666:P252H;ENSP00000384029:P252H;ENSP00000354897:P211H;ENSP00000384797:P252H;ENSP00000335652:P169H;ENSP00000340626:P169H;ENSP00000380891:P252H;ENSP00000355183:P210H;ENSP00000354529:P252H	.	P	+	2	0	NF2	28387273	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.814000	0.86154	2.747000	0.94245	0.650000	0.86243	CCC		0.498	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268		5	182	5	182	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30412587	30412587	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:30412587G>T	ENST00000401950.2	+	15	1916	c.1574G>T	c.(1573-1575)gGg>gTg	p.G525V	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.G389V|MTMR3_ENST00000406629.1_Missense_Mutation_p.G525V|MTMR3_ENST00000351488.3_Missense_Mutation_p.G525V|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000333027.3_Missense_Mutation_p.G525V	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	525	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAGGAGAGAGGGGAAAAGCAT	0.478																																						ENST00000333027.3																			0				breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17						c.(1573-1575)gGg>gTg		myotubularin related protein 3							262.0	218.0	233.0					22																	30412587		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30412587G>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1574G>T	22.37:g.30412587G>T	ENSP00000384651:p.Gly525Val					CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.G525V|MTMR3_ENST00000401950.2_Missense_Mutation_p.G525V|MTMR3_ENST00000323630.5_Missense_Mutation_p.G389V|MTMR3_ENST00000406629.1_Missense_Mutation_p.G525V	p.G525V	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		15	1902	+			525			Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.1574G>T	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266416	0.40095	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46;-2.46	5.91	5.91	0.95273	Myotubularin phosphatase domain (1);	0.166180	0.53938	D	0.000049	T	0.68943	0.3056	N	0.00298	-1.69	0.80722	D	1	B;B;B	0.31790	0.34;0.016;0.34	B;B;B	0.33799	0.17;0.014;0.17	T	0.73714	-0.3896	10	0.13470	T	0.59	.	19.2777	0.94039	0.0:0.0:1.0:0.0	.	525;525;525	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	V	525;525;389;525;525	ENSP00000384651:G525V;ENSP00000331649:G525V;ENSP00000318070:G389V;ENSP00000307271:G525V;ENSP00000384077:G525V	ENSP00000318070:G389V	G	+	2	0	MTMR3	28742587	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	3.302000	0.51849	2.794000	0.96219	0.655000	0.94253	GGG		0.478	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		7	315	7	315	---	---	---	---
RBFOX2	23543	broad.mit.edu	37	22	36177715	36177715	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:36177715G>T	ENST00000438146.2	-	4	540	c.541C>A	c.(541-543)Ccg>Acg	p.P181T	RBFOX2_ENST00000359369.4_Missense_Mutation_p.P90T|RBFOX2_ENST00000449924.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000414461.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000405409.2_Missense_Mutation_p.P111T|RBFOX2_ENST00000262829.7_Missense_Mutation_p.P110T|RBFOX2_ENST00000397303.2_Missense_Mutation_p.P91T|RBFOX2_ENST00000416721.2_Missense_Mutation_p.P110T	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	120	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						AGCCGTTTCGGGGTAGATTTA	0.458																																						ENST00000405409.2																			0				endometrium(4)|large_intestine(7)|lung(7)	18						c.(331-333)Ccg>Acg		RNA binding protein, fox-1 homolog (C. elegans) 2							162.0	168.0	166.0					22																	36177715		2203	4300	6503	SO:0001583	missense	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36177715G>T	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.541C>A	22.37:g.36177715G>T	ENSP00000413035:p.Pro181Thr					RBFOX2_ENST00000449924.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000262829.7_Missense_Mutation_p.P110T|RBFOX2_ENST00000359369.4_Missense_Mutation_p.P90T|RBFOX2_ENST00000438146.2_Missense_Mutation_p.P181T|RBFOX2_ENST00000397303.2_Missense_Mutation_p.P91T|RBFOX2_ENST00000416721.2_Missense_Mutation_p.P110T|RBFOX2_ENST00000414461.2_Missense_Mutation_p.P110T	p.P111T	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN			3	699	-			120					A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	c.331C>A	CCDS43013.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063484	0.93898	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983;ENST00000397305	T;T;T;T;T;T;T;T;T;T	0.73789	1.34;1.34;1.34;1.34;1.34;1.34;1.34;1.34;-0.78;1.01	5.63	5.63	0.86233	Nucleotide-binding, alpha-beta plait (1);	0.051584	0.85682	D	0.000000	D	0.86008	0.5830	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.999;0.999;0.999;0.998;0.998;0.999;1.0;0.999;0.998	D	0.86710	0.1935	10	0.87932	D	0	.	19.6891	0.95991	0.0:0.0:1.0:0.0	.	90;120;180;181;110;110;111;110;110;91	B0QYY4;O43251;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;RFOX2_HUMAN;.;.;.;.;.;.;.;.	T	111;120;110;110;110;91;90;110;181;133;90	ENSP00000384944:P111T;ENSP00000407855:P110T;ENSP00000391670:P110T;ENSP00000262829:P110T;ENSP00000380470:P91T;ENSP00000352328:P90T;ENSP00000405651:P110T;ENSP00000413035:P181T;ENSP00000386177:P133T;ENSP00000380472:P90T	ENSP00000262829:P110T	P	-	1	0	RBFOX2	34507661	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.224000	0.95209	2.641000	0.89580	0.650000	0.86243	CCG		0.458	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3			6	344	6	344	---	---	---	---
GGA1	26088	broad.mit.edu	37	22	38010280	38010280	+	Splice_Site	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:38010280G>T	ENST00000343632.4	+	2	513	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	GGA1_ENST00000414350.3_Splice_Site_p.G43W|GGA1_ENST00000381756.5_Splice_Site_p.G43W|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000337437.4_Splice_Site_p.G43W|GGA1_ENST00000405147.3_Splice_Site_p.G43W|GGA1_ENST00000325180.8_Splice_Site_p.G43W	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	43	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G43R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGACTTTGAGGGGTAGGTGGC	0.592																																						ENST00000343632.4																			1	Substitution - Missense(1)	p.G43R(1)	kidney(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(127-129)Ggg>Tgg		golgi-associated, gamma adaptin ear containing, ARF binding protein 1							79.0	67.0	71.0					22																	38010280		2203	4300	6503	SO:0001630	splice_region_variant	26088				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding	g.chr22:38010280G>T	AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.128+1G>T	22.37:g.38010280G>T						GGA1_ENST00000414350.3_Splice_Site_p.G43W|GGA1_ENST00000325180.8_Splice_Site_p.G43W|GGA1_ENST00000381756.5_Splice_Site_p.G43W|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000405147.3_Splice_Site_p.G43W|GGA1_ENST00000337437.4_Splice_Site_p.G43W	p.G43W	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN			2	513	+	Melanoma(58;0.0574)		43			VHS.		A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Splice_Site	SNP	ENST00000343632.4	37	c.127G>T	CCDS13951.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467719	0.84533	.	.	ENSG00000100083	ENST00000414350;ENST00000343632;ENST00000381756;ENST00000405147;ENST00000325180;ENST00000337437;ENST00000449944	T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83	4.41	4.41	0.53225	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.85682	D	0.000000	T	0.57257	0.2041	M	0.89478	3.035	0.80722	D	1	D;D;D;P	0.69078	0.986;0.997;0.991;0.473	D;D;D;B	0.69479	0.928;0.952;0.964;0.263	T	0.68526	-0.5385	10	0.87932	D	0	-33.5231	17.1826	0.86858	0.0:0.0:1.0:0.0	.	43;43;43;43	Q6IC75;Q86YA9;Q9UJY5;Q8NCS6	.;.;GGA1_HUMAN;.	W	43;43;43;43;43;43;35	ENSP00000414387:G43W;ENSP00000341344:G43W;ENSP00000371175:G43W;ENSP00000384030:G43W;ENSP00000321288:G43W;ENSP00000338647:G43W;ENSP00000390416:G35W	ENSP00000321288:G43W	G	+	1	0	GGA1	36340226	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	9.399000	0.97285	2.287000	0.76781	0.462000	0.41574	GGG		0.592	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075873.3	NM_013365	Missense_Mutation	4	56	4	56	---	---	---	---
EIF3L	51386	broad.mit.edu	37	22	38258978	38258978	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:38258978G>T	ENST00000412331.2	+	6	1020	c.438G>T	c.(436-438)ggG>ggT	p.G146G	EIF3L_ENST00000406934.1_Silent_p.G48G|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTTACAGGGGGGACCTTCCT	0.378																																						ENST00000412331.2																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(436-438)ggG>ggT		eukaryotic translation initiation factor 3, subunit L							89.0	89.0	89.0					22																	38258978		2203	4300	6503	SO:0001819	synonymous_variant	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38258978G>T	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.438G>T	22.37:g.38258978G>T						EIF3L_ENST00000406934.1_Silent_p.G48G|EIF3L_ENST00000381683.6_Intron|EIF3L_ENST00000476955.1_Intron	p.G146G	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN			6	1020	+			146						Silent	SNP	ENST00000412331.2	37	c.438G>T	CCDS13960.1																																																																																				0.378	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		6	218	6	218	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41527561	41527561	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:41527561C>A	ENST00000263253.7	+	6	2671	c.1452C>A	c.(1450-1452)ccC>ccA	p.P484P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	484					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CGACACAACCCCAGGTGCAAG	0.498			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(1450-1452)ccC>ccA		E1A binding protein p300							85.0	83.0	83.0					22																	41527561		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41527561C>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1452C>A	22.37:g.41527561C>A							p.P484P	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			6	2671	+			484					B1AKC2	Silent	SNP	ENST00000263253.7	37	c.1452C>A	CCDS14010.1																																																																																				0.498	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		5	138	5	138	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41551078	41551078	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:41551078C>A	ENST00000263253.7	+	17	4441	c.3222C>A	c.(3220-3222)ccC>ccA	p.P1074P		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1074	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATCCCTTCCCTTTCGTCAAC	0.383			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(3220-3222)ccC>ccA		E1A binding protein p300							246.0	236.0	240.0					22																	41551078		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41551078C>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3222C>A	22.37:g.41551078C>A							p.P1074P	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			17	4441	+			1074			Bromo.		B1AKC2	Silent	SNP	ENST00000263253.7	37	c.3222C>A	CCDS14010.1																																																																																				0.383	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		8	566	8	566	---	---	---	---
L3MBTL2	83746	broad.mit.edu	37	22	41605896	41605896	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:41605896C>A	ENST00000216237.5	+	2	379	c.221C>A	c.(220-222)cCt>cAt	p.P74H	L3MBTL2_ENST00000489136.1_3'UTR|RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	74					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGCTCAGCCCTGGGACTCCT	0.567																																						ENST00000216237.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(220-222)cCt>cAt		l(3)mbt-like 2 (Drosophila)							113.0	111.0	112.0					22																	41605896		2203	4300	6503	SO:0001583	missense	83746				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding	g.chr22:41605896C>A	AJ305226	CCDS14011.1	22q13.31-q13.33	2008-06-11			ENSG00000100395	ENSG00000100395			18594	protein-coding gene	gene with protein product		611865				11682070	Standard	NM_031488		Approved	H-l(3)mbt-l, DKFZP761I141, dJ756G23.3	uc003azo.3	Q969R5	OTTHUMG00000150942	ENST00000216237.5:c.221C>A	22.37:g.41605896C>A	ENSP00000216237:p.Pro74His					RP4-756G23.5_ENST00000451176.1_RNA|RP4-756G23.5_ENST00000441316.1_RNA|L3MBTL2_ENST00000489136.1_3'UTR	p.P74H	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN			2	379	+			74					Q8TEN1|Q96SC4|Q9BQI2|Q9UGS4	Missense_Mutation	SNP	ENST00000216237.5	37	c.221C>A	CCDS14011.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.106137	0.56291	.	.	ENSG00000100395	ENST00000216237;ENST00000449635	T	0.18810	2.19	5.08	5.08	0.68730	.	0.633204	0.16102	N	0.229505	T	0.16938	0.0407	N	0.24115	0.695	0.22511	N	0.999035	B	0.09022	0.002	B	0.04013	0.001	T	0.11397	-1.0589	10	0.22109	T	0.4	.	18.0691	0.89400	0.0:1.0:0.0:0.0	.	74	Q969R5	LMBL2_HUMAN	H	74;66	ENSP00000216237:P74H	ENSP00000216237:P74H	P	+	2	0	L3MBTL2	39935842	0.664000	0.27457	1.000000	0.80357	0.957000	0.61999	3.840000	0.55843	2.364000	0.80123	0.637000	0.83480	CCT		0.567	L3MBTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320613.1	NM_031488		5	180	5	180	---	---	---	---
POLDIP3	84271	broad.mit.edu	37	22	42998805	42998805	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:42998805G>T	ENST00000252115.5	-	2	525	c.421C>A	c.(421-423)Cct>Act	p.P141T	POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Missense_Mutation_p.P141T|POLDIP3_ENST00000451060.2_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.P141T	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	141					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						TTCAGAGCAGGGGTCACTGTC	0.532																																					Ovarian(52;967 1128 5875 19997 42537)	ENST00000252115.5																			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						c.(421-423)Cct>Act		polymerase (DNA-directed), delta interacting protein 3							84.0	92.0	89.0					22																	42998805		2203	4300	6503	SO:0001583	missense	84271				positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr22:42998805G>T		CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"""RNA binding motif (RRM) containing"""	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.421C>A	22.37:g.42998805G>T	ENSP00000252115:p.Pro141Thr					POLDIP3_ENST00000451060.2_5'UTR|POLDIP3_ENST00000348657.2_Missense_Mutation_p.P141T|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Missense_Mutation_p.P141T	p.P141T	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN			2	525	-			141					A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Missense_Mutation	SNP	ENST00000252115.5	37	c.421C>A	CCDS14038.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911002	0.72983	.	.	ENSG00000100227	ENST00000348657;ENST00000252115;ENST00000415122;ENST00000339677;ENST00000452567	.	.	.	6.08	6.08	0.98989	.	0.110978	0.64402	D	0.000006	T	0.66877	0.2834	L	0.47716	1.5	0.80722	D	1	P;P;D;D;P	0.69078	0.941;0.941;0.997;0.98;0.941	B;B;P;P;B	0.61132	0.421;0.421;0.884;0.713;0.421	T	0.67692	-0.5605	9	0.72032	D	0.01	-2.928	13.8168	0.63297	0.0695:0.0:0.9305:0.0	.	141;137;141;141;141	B4E0L0;Q96DI9;Q6R954;Q9BY77-2;Q9BY77	.;.;.;.;PDIP3_HUMAN	T	141	.	ENSP00000252115:P141T	P	-	1	0	POLDIP3	41328749	1.000000	0.71417	0.864000	0.33941	0.801000	0.45260	6.144000	0.71762	2.894000	0.99253	0.591000	0.81541	CCT		0.532	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320433.1	NM_032311		6	186	6	186	---	---	---	---
EFCAB6	64800	broad.mit.edu	37	22	44178084	44178084	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:44178084G>T	ENST00000262726.7	-	3	368	c.115C>A	c.(115-117)Cca>Aca	p.P39T	EFCAB6_ENST00000358439.4_Silent_p.P3P|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000356087.4_Silent_p.P3P	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	39					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AACTTATTTGGGGAACCATTC	0.358																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(115-117)Cca>Aca		EF-hand calcium binding domain 6							192.0	180.0	184.0					22																	44178084		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44178084G>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.115C>A	22.37:g.44178084G>T	ENSP00000262726:p.Pro39Thr					EFCAB6_ENST00000358439.4_Silent_p.P3P|EFCAB6_ENST00000396231.2_Intron|EFCAB6_ENST00000356087.4_Silent_p.P3P	p.P39T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			3	368	-		Ovarian(80;0.0247)|all_neural(38;0.025)	39					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.115C>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	G	9.571	1.121023	0.20877	.	.	ENSG00000186976	ENST00000262726	T	0.13089	2.62	4.47	3.44	0.39384	.	0.372175	0.19816	N	0.105430	T	0.06462	0.0166	N	0.08118	0	0.20403	N	0.999909	B;B	0.32160	0.358;0.244	B;B	0.29716	0.106;0.049	T	0.37244	-0.9714	10	0.20046	T	0.44	-4.8168	10.615	0.45445	0.0:0.1946:0.8054:0.0	.	39;39	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	T	39	ENSP00000262726:P39T	ENSP00000262726:P39T	P	-	1	0	EFCAB6	42509417	0.637000	0.27216	0.005000	0.12908	0.121000	0.20230	2.132000	0.42083	1.217000	0.43442	0.655000	0.94253	CCA		0.358	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		8	267	8	267	---	---	---	---
TRMU	55687	broad.mit.edu	37	22	46733731	46733731	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:46733731G>T	ENST00000290846.4	+	2	478	c.138G>T	c.(136-138)ggG>ggT	p.G46G	TRMU_ENST00000424260.2_Silent_p.G11G|TRMU_ENST00000381019.3_Silent_p.G46G	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	46					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		ATGAACATGGGGTCTGTACTG	0.453																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(136-138)ggG>ggT		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							157.0	129.0	139.0					22																	46733731		2203	4300	6503	SO:0001819	synonymous_variant	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46733731G>T	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.138G>T	22.37:g.46733731G>T						TRMU_ENST00000424260.2_Silent_p.G11G|TRMU_ENST00000381019.3_Silent_p.G46G	p.G46G	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	2	478	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	46					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Silent	SNP	ENST00000290846.4	37	c.138G>T	CCDS14075.1																																																																																				0.453	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		5	170	5	170	---	---	---	---
KLHDC7B	113730	broad.mit.edu	37	22	50987604	50987604	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr22:50987604C>A	ENST00000395676.2	+	1	1143	c.1009C>A	c.(1009-1011)Cag>Aag	p.Q337K	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	337										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCCTGACCCAGGTGCCCGA	0.697																																						ENST00000395676.2																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(1009-1011)Cag>Aag		kelch domain containing 7B							42.0	53.0	49.0					22																	50987604		2053	4104	6157	SO:0001583	missense	113730							g.chr22:50987604C>A	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1009C>A	22.37:g.50987604C>A	ENSP00000379034:p.Gln337Lys						p.Q337K	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	1	1143	+		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	337						Missense_Mutation	SNP	ENST00000395676.2	37	c.1009C>A	CCDS14097.2	.	.	.	.	.	.	.	.	.	.	C	5.354	0.250595	0.10130	.	.	ENSG00000130487	ENST00000395676	T	0.65916	-0.18	5.03	-0.0988	0.13627	Kelch-type beta propeller (1);	1.051690	0.07633	U	0.929004	T	0.55273	0.1910	L	0.60455	1.87	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.44112	-0.9349	10	0.07990	T	0.79	.	12.998	0.58660	0.5455:0.4545:0.0:0.0	.	337	Q96G42	KLD7B_HUMAN	K	337	ENSP00000379034:Q337K	ENSP00000379034:Q337K	Q	+	1	0	KLHDC7B	49334470	0.000000	0.05858	0.024000	0.17045	0.877000	0.50540	0.035000	0.13797	0.128000	0.18479	0.313000	0.20887	CAG		0.697	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317089.2	NM_138433		5	187	5	187	---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	307979	307979	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:307979G>T	ENST00000390665.3	-	4	725	c.707C>A	c.(706-708)cCc>cAc	p.P236H		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	236					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCAAGAAGGGGACAAAGTC	0.617																																						ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(706-708)cCc>cAc		protein phosphatase 2, regulatory subunit B'', beta							176.0	197.0	190.0					X																	307979		2091	4183	6274	SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:307979G>T	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.707C>A	X.37:g.307979G>T	ENSP00000375080:p.Pro236His						p.P236H	NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN			4	725	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	236					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.707C>A	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448880	0.26074	.	.	ENSG00000167393	ENST00000390665	T	0.28895	1.59	2.14	1.19	0.21007	.	0.000000	0.85682	U	0.000000	T	0.58652	0.2137	M	0.93638	3.44	0.22446	N	0.999098	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.94	T	0.50118	-0.8865	10	0.87932	D	0	.	7.9535	0.30029	0.1444:0.0:0.8555:0.0	.	75;236	B4DE79;Q9Y5P8	.;P2R3B_HUMAN	H	236	ENSP00000375080:P236H	ENSP00000375080:P236H	P	-	2	0	PPP2R3B	227979	1.000000	0.71417	0.771000	0.31576	0.092000	0.18411	7.166000	0.77553	0.663000	0.31027	0.174000	0.16983	CCC		0.617	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		5	139	5	139	---	---	---	---
BMX	660	broad.mit.edu	37	X	15534241	15534241	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:15534241G>T	ENST00000357607.2	+	5	520	c.332G>T	c.(331-333)aGg>aTg	p.R111M	BMX_ENST00000342014.6_Missense_Mutation_p.R111M|BMX_ENST00000348343.6_Missense_Mutation_p.R111M|BMX_ENST00000463891.1_3'UTR			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	111	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TCAGAGATAAGGGGTAACCCC	0.478																																						ENST00000357607.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30						c.(331-333)aGg>aTg		BMX non-receptor tyrosine kinase							140.0	127.0	132.0					X																	15534241		2203	4300	6503	SO:0001583	missense	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15534241G>T	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.332G>T	X.37:g.15534241G>T	ENSP00000350224:p.Arg111Met					BMX_ENST00000342014.6_Missense_Mutation_p.R111M|BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Missense_Mutation_p.R111M	p.R111M			P51813	BMX_HUMAN			5	520	+	Hepatocellular(33;0.183)		111			PH.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.332G>T	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470736	0.63625	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	D;D;D	0.94000	-3.33;-3.33;-3.33	5.24	1.28	0.21552	Pleckstrin homology-type (1);Pleckstrin homology domain (2);Zinc finger, Btk motif (1);	0.296303	0.30428	N	0.009658	D	0.94175	0.8131	M	0.65975	2.015	0.33092	D	0.538014	D	0.61080	0.989	D	0.63113	0.911	D	0.93227	0.6614	10	0.87932	D	0	.	6.6608	0.23012	0.4433:0.0:0.5567:0.0	.	111	P51813	BMX_HUMAN	M	111	ENSP00000350224:R111M;ENSP00000308774:R111M;ENSP00000340082:R111M	ENSP00000340082:R111M	R	+	2	0	BMX	15444162	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.541000	0.36126	0.375000	0.24679	0.600000	0.82982	AGG		0.478	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1	NM_001721		5	159	5	159	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19031991	19031991	+	Silent	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:19031991G>T	ENST00000379869.3	-	16	1075	c.912C>A	c.(910-912)ccC>ccA	p.P304P	GPR64_ENST00000356606.4_Silent_p.P290P|GPR64_ENST00000379873.2_Silent_p.P304P|GPR64_ENST00000354791.3_Silent_p.P288P|GPR64_ENST00000357991.3_Silent_p.P301P|GPR64_ENST00000360279.4_Silent_p.P282P|GPR64_ENST00000379876.1_Silent_p.P280P|GPR64_ENST00000379878.3_Silent_p.P288P|GPR64_ENST00000340581.3_Silent_p.P274P|GPR64_ENST00000357544.3_Silent_p.P274P	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	304					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTGAAGGCTGGGGTGAAAGGG	0.557																																						ENST00000354791.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(862-864)ccC>ccA		G protein-coupled receptor 64							122.0	116.0	118.0					X																	19031991		2203	4300	6503	SO:0001819	synonymous_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19031991G>T	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.912C>A	X.37:g.19031991G>T						GPR64_ENST00000360279.4_Silent_p.P282P|GPR64_ENST00000340581.3_Silent_p.P274P|GPR64_ENST00000379876.1_Silent_p.P280P|GPR64_ENST00000379869.3_Silent_p.P304P|GPR64_ENST00000357544.3_Silent_p.P274P|GPR64_ENST00000356606.4_Silent_p.P290P|GPR64_ENST00000379873.2_Silent_p.P304P|GPR64_ENST00000379878.3_Silent_p.P288P|GPR64_ENST00000357991.3_Silent_p.P301P	p.P288P			Q8IZP9	GPR64_HUMAN			15	1105	-	Hepatocellular(33;0.183)		304					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	ENST00000379869.3	37	c.864C>A	CCDS43923.1																																																																																				0.557	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			4	84	4	84	---	---	---	---
RPS6KA3	6197	broad.mit.edu	37	X	20185708	20185708	+	Splice_Site	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:20185708C>A	ENST00000379565.3	-	17	1808	c.1601G>T	c.(1600-1602)gGg>gTg	p.G534V	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Splice_Site_p.G506V|RPS6KA3_ENST00000379548.4_Splice_Site_p.G504V|RPS6KA3_ENST00000540702.1_Splice_Site_p.G505V	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	534	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	AAGACTTACCCCTTGTGCGTG	0.343																																						ENST00000379565.3																			0				breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.(1600-1602)gGg>gTg		ribosomal protein S6 kinase, 90kDa, polypeptide 3							163.0	162.0	162.0					X																	20185708		2203	4300	6503	SO:0001630	splice_region_variant	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20185708C>A	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1602+1G>T	X.37:g.20185708C>A						RPS6KA3_ENST00000379548.4_Splice_Site_p.G504V|RPS6KA3_ENST00000540702.1_Splice_Site_p.G505V|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Splice_Site_p.G506V	p.G534V	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN			17	1808	-			534			Protein kinase 2.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Splice_Site	SNP	ENST00000379565.3	37	c.1601G>T	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744015	0.89663	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054454	0.64402	D	0.000001	T	0.80166	0.4573	H	0.96460	3.825	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	D;D;D;D	0.87578	0.992;0.995;0.998;0.997	D	0.86538	0.1826	10	0.87932	D	0	.	18.9908	0.92791	0.0:1.0:0.0:0.0	.	505;504;506;534	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	V	534;506;504;505	ENSP00000368884:G534V;ENSP00000440220:G506V;ENSP00000368865:G504V;ENSP00000444837:G505V	ENSP00000368865:G504V	G	-	2	0	RPS6KA3	20095629	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.818000	0.86416	2.434000	0.82447	0.513000	0.50165	GGG		0.343	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	Missense_Mutation	6	239	6	239	---	---	---	---
PHEX	5251	broad.mit.edu	37	X	22132642	22132642	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:22132642C>A	ENST00000379374.4	+	11	1805	c.1240C>A	c.(1240-1242)Ctc>Atc	p.L414I	PHEX_ENST00000537599.1_Missense_Mutation_p.L414I|PHEX_ENST00000418858.3_Missense_Mutation_p.L117I|PHEX_ENST00000535894.1_Missense_Mutation_p.L317I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	414					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGAAAGTGCCCTCCCTTATGT	0.403																																						ENST00000379374.4																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1240-1242)Ctc>Atc		phosphate regulating endopeptidase homolog, X-linked							169.0	143.0	152.0					X																	22132642		2203	4300	6503	SO:0001583	missense	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22132642C>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1240C>A	X.37:g.22132642C>A	ENSP00000368682:p.Leu414Ile					PHEX_ENST00000535894.1_Missense_Mutation_p.L317I|PHEX_ENST00000418858.3_Missense_Mutation_p.L117I|PHEX_ENST00000537599.1_Missense_Mutation_p.L414I	p.L414I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN			11	1805	+			414					O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	c.1240C>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746234	0.69418	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.44	5.44	0.79542	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.061033	0.64402	D	0.000003	D	0.82440	0.5037	L	0.48642	1.525	0.53688	D	0.999977	B;B	0.33940	0.379;0.433	B;B	0.29524	0.063;0.103	T	0.83035	-0.0160	10	0.59425	D	0.04	.	13.3424	0.60553	0.1576:0.8424:0.0:0.0	.	414;414	F5GXU4;P78562	.;PHEX_HUMAN	I	414;414;317;117	ENSP00000368682:L414I;ENSP00000440362:L414I;ENSP00000439418:L317I;ENSP00000443531:L117I	ENSP00000368682:L414I	L	+	1	0	PHEX	22042563	0.998000	0.40836	0.998000	0.56505	0.996000	0.88848	3.813000	0.55636	2.275000	0.75901	0.513000	0.50165	CTC		0.403	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		5	122	5	122	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29972728	29972728	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:29972728C>A	ENST00000378993.1	+	10	1964	c.1291C>A	c.(1291-1293)Ctt>Att	p.L431I	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L431I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	431	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.L431I(4)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACGTTTTGCCCTTGAAATCCT	0.348																																						ENST00000378993.1																			4	Substitution - Missense(4)	p.L431I(4)	lung(4)	biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1291-1293)Ctt>Att		interleukin 1 receptor accessory protein-like 1							105.0	90.0	95.0					X																	29972728		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29972728C>A	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1291C>A	X.37:g.29972728C>A	ENSP00000368278:p.Leu431Ile					IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.L431I	p.L431I	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN			10	1964	+			431			TIR.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1291C>A	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080424	0.94050	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.08720	3.06;3.06	5.81	5.81	0.92471	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.058607	0.64402	D	0.000001	T	0.30665	0.0772	M	0.72576	2.205	0.58432	D	0.999998	D	0.63880	0.993	D	0.85130	0.997	T	0.00473	-1.1718	9	.	.	.	.	19.0725	0.93145	0.0:1.0:0.0:0.0	.	431	Q9NZN1	IRPL1_HUMAN	I	431	ENSP00000368278:L431I;ENSP00000305200:L431I	.	L	+	1	0	IL1RAPL1	29882649	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.787000	0.69013	2.453000	0.82957	0.594000	0.82650	CTT		0.348	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		5	115	5	115	---	---	---	---
BTK	695	broad.mit.edu	37	X	100613415	100613415	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:100613415C>A	ENST00000308731.7	-	12	1148	c.985G>T	c.(985-987)Ggg>Tgg	p.G329W	BTK_ENST00000372880.1_Missense_Mutation_p.G329W	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	329	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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						CGTATCACCCCTTGAGGGTCC	0.473									Agammaglobulinemia, X-linked																													ENST00000308731.7																			0				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						c.(985-987)Ggg>Tgg		Bruton agammaglobulinemia tyrosine kinase							139.0	120.0	126.0					X																	100613415		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:100613415C>A	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.985G>T	X.37:g.100613415C>A	ENSP00000308176:p.Gly329Trp					BTK_ENST00000372880.1_Missense_Mutation_p.G329W	p.G329W	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN			12	1148	-			329			SH2.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.985G>T	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682155	0.68042	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.94184	-3.37;-3.37	6.06	6.06	0.98353	SH2 motif (4);	0.048987	0.85682	D	0.000000	D	0.97845	0.9292	H	0.94385	3.53	0.58432	D	0.999997	D;D;D	0.89917	0.998;0.997;1.0	D;D;D	0.91635	0.989;0.986;0.999	D	0.98479	1.0604	10	0.72032	D	0.01	.	19.1109	0.93315	0.0:1.0:0.0:0.0	.	329;329;329	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	W	329	ENSP00000361971:G329W;ENSP00000308176:G329W	ENSP00000308176:G329W	G	-	1	0	BTK	100500071	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.583000	0.74053	2.562000	0.86427	0.600000	0.82982	GGG		0.473	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		4	111	4	111	---	---	---	---
ARMCX2	9823	broad.mit.edu	37	X	100911778	100911778	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:100911778C>A	ENST00000328766.5	-	5	1250	c.797G>T	c.(796-798)gGg>gTg	p.G266V	ARMCX2_ENST00000356824.4_Missense_Mutation_p.G266V|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G266V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	266	Ala-rich.					integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CGGTATAGCCCCAGTGTGAGC	0.587																																						ENST00000328766.5																			0				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						c.(796-798)gGg>gTg		armadillo repeat containing, X-linked 2							99.0	97.0	98.0					X																	100911778		2203	4300	6503	SO:0001583	missense	9823					integral to membrane	binding	g.chrX:100911778C>A	AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.797G>T	X.37:g.100911778C>A	ENSP00000331662:p.Gly266Val					ARMCX2_ENST00000356824.4_Missense_Mutation_p.G266V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.G266V	p.G266V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN			5	1250	-			266			Ala-rich.		O60267|Q5H9D9	Missense_Mutation	SNP	ENST00000328766.5	37	c.797G>T	CCDS14490.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.699649	0.30142	.	.	ENSG00000184867	ENST00000328766;ENST00000330154;ENST00000356824	T;T;T	0.55234	0.53;0.53;0.53	4.47	3.51	0.40186	.	0.000000	0.40554	N	0.001078	T	0.53045	0.1772	N	0.19112	0.55	0.58432	D	0.999996	D	0.76494	0.999	D	0.71184	0.972	T	0.50742	-0.8792	10	0.36615	T	0.2	-9.527	10.8814	0.46939	0.0:0.8109:0.1891:0.0	.	266	Q7L311	ARMX2_HUMAN	V	266	ENSP00000331662:G266V;ENSP00000328631:G266V;ENSP00000349281:G266V	ENSP00000331662:G266V	G	-	2	0	ARMCX2	100798434	0.975000	0.34042	1.000000	0.80357	0.258000	0.26162	2.903000	0.48711	2.155000	0.67459	0.422000	0.28245	GGG		0.587	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057586.1	NM_014782		5	144	5	144	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494932	110494932	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:110494932C>A	ENST00000324068.1	-	6	905	c.738G>T	c.(736-738)tgG>tgT	p.W246C	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	246	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TCAGCAGACCCCAATCAGTTT	0.453																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(736-738)tgG>tgT		calpain 6							262.0	253.0	256.0					X																	110494932		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494932C>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.738G>T	X.37:g.110494932C>A	ENSP00000317214:p.Trp246Cys					CAPN6_ENST00000541758.1_5'UTR	p.W246C	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			6	905	-			246			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.738G>T	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	0.331	-0.956215	0.02267	.	.	ENSG00000077274	ENST00000324068	D	0.86865	-2.18	6.17	6.17	0.99709	Peptidase C2, calpain, catalytic domain (3);	0.216317	0.50627	D	0.000103	T	0.64929	0.2643	N	0.00450	-1.49	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.65421	-0.6172	10	0.26408	T	0.33	.	14.5573	0.68109	0.1459:0.8541:0.0:0.0	.	246	Q9Y6Q1	CAN6_HUMAN	C	246	ENSP00000317214:W246C	ENSP00000317214:W246C	W	-	3	0	CAPN6	110381588	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.194000	0.42668	2.618000	0.88619	0.600000	0.82982	TGG		0.453	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			7	426	7	426	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111025269	111025269	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:111025269G>T	ENST00000262839.2	-	8	2912	c.1994C>A	c.(1993-1995)cCc>cAc	p.P665H		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	665					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTGGGGCTGGGGATGATGTT	0.488																																						ENST00000262839.2																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1993-1995)cCc>cAc		transient receptor potential cation channel, subfamily C, member 5							141.0	132.0	135.0					X																	111025269		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111025269G>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1994C>A	X.37:g.111025269G>T	ENSP00000262839:p.Pro665His						p.P665H	NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN			8	2912	-			665					B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1994C>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726357	0.89298	.	.	ENSG00000072315	ENST00000262839	D	0.83075	-1.68	5.92	5.92	0.95590	.	0.054689	0.85682	D	0.000000	D	0.92808	0.7713	M	0.89904	3.07	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.67231	0.945;0.95	D	0.93803	0.7103	10	0.87932	D	0	-13.4842	19.2591	0.93961	0.0:0.0:1.0:0.0	.	666;665	Q59G51;Q9UL62	.;TRPC5_HUMAN	H	665	ENSP00000262839:P665H	ENSP00000262839:P665H	P	-	2	0	TRPC5	110911925	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	9.814000	0.99346	2.501000	0.84356	0.594000	0.82650	CCC		0.488	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		5	148	5	148	---	---	---	---
ACTRT1	139741	broad.mit.edu	37	X	127185484	127185484	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:127185484C>A	ENST00000371124.3	-	1	898	c.702G>T	c.(700-702)cgG>cgT	p.R234R		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	234						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GGACCTCTCCCCGGCTCTTGC	0.512																																						ENST00000371124.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						c.(700-702)cgG>cgT		actin-related protein T1							129.0	120.0	123.0					X																	127185484		2203	4300	6503	SO:0001819	synonymous_variant	139741					cytoplasm|cytoskeleton		g.chrX:127185484C>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.702G>T	X.37:g.127185484C>A							p.R234R	NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN			1	898	-			234					Q6X7C1|Q96L10	Silent	SNP	ENST00000371124.3	37	c.702G>T	CCDS14611.1																																																																																				0.512	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		5	166	5	166	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129159054	129159054	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:129159054C>A	ENST00000218147.7	+	7	3975	c.3778C>A	c.(3778-3780)Ccc>Acc	p.P1260T	BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1260T|BCORL1_ENST00000540052.1_Missense_Mutation_p.P1260T			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1260					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGAGGTAACCCCCACCCCAGC	0.577																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(3778-3780)Ccc>Acc		BCL6 corepressor-like 1							117.0	111.0	113.0					X																	129159054		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129159054C>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3778C>A	X.37:g.129159054C>A	ENSP00000218147:p.Pro1260Thr					BCORL1_ENST00000218147.7_Missense_Mutation_p.P1260T|BCORL1_ENST00000303743.5_Missense_Mutation_p.P1260T|BCORL1_ENST00000359304.2_Intron	p.P1260T	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN			6	3822	+			1260					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.3778C>A	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	C	7.874	0.728742	0.15507	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000540052;ENST00000456822	T;T;T;T	0.40756	1.02;1.39;1.02;1.46	5.84	4.02	0.46733	.	0.225617	0.22886	N	0.054449	T	0.21674	0.0522	N	0.08118	0	0.09310	N	1	P;P	0.52842	0.744;0.956	B;B	0.44224	0.359;0.444	T	0.03608	-1.1020	10	0.34782	T	0.22	-11.238	5.1308	0.14909	0.0:0.4897:0.3425:0.1678	.	1260;1260	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	T	1260;1260;1260;860	ENSP00000218147:P1260T;ENSP00000307541:P1260T;ENSP00000437775:P1260T;ENSP00000399483:P860T	ENSP00000218147:P1260T	P	+	1	0	BCORL1	128986735	0.008000	0.16893	0.028000	0.17463	0.210000	0.24377	1.563000	0.36364	1.167000	0.42706	0.600000	0.82982	CCC		0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		5	120	5	120	---	---	---	---
OR13H1	347468	broad.mit.edu	37	X	130678846	130678846	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:130678846C>A	ENST00000338616.3	+	1	897	c.799C>A	c.(799-801)Cct>Act	p.P267T		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					CAAGTCCTACCCTGACCAGGA	0.453																																						ENST00000338616.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(799-801)Cct>Act		olfactory receptor, family 13, subfamily H, member 1							119.0	110.0	113.0					X																	130678846		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678846C>A		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.799C>A	X.37:g.130678846C>A	ENSP00000340748:p.Pro267Thr						p.P267T	NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN			1	897	+	Acute lymphoblastic leukemia(192;0.000636)		267					B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.799C>A	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.481521	0.01027	.	.	ENSG00000171054	ENST00000338616	T	0.00207	8.55	4.87	-4.52	0.03472	GPCR, rhodopsin-like superfamily (1);	0.731381	0.11337	U	0.574489	T	0.00073	0.0002	N	0.17631	0.505	0.09310	N	1	B	0.29212	0.237	B	0.31101	0.124	T	0.10730	-1.0617	10	0.21540	T	0.41	.	1.248	0.01976	0.333:0.1402:0.1086:0.4182	.	267	Q8NG92	O13H1_HUMAN	T	267	ENSP00000340748:P267T	ENSP00000340748:P267T	P	+	1	0	OR13H1	130506527	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-3.185000	0.00567	-1.156000	0.02818	-0.232000	0.12228	CCT		0.453	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			5	186	5	186	---	---	---	---
ZIC3	7547	broad.mit.edu	37	X	136652080	136652080	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:136652080C>A	ENST00000287538.5	+	3	1805	c.1255C>A	c.(1255-1257)Cct>Act	p.P419T	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Intron	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	419					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGATTCCTCCCCTGCTGCCAG	0.403																																						ENST00000287538.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37						c.(1255-1257)Cct>Act		Zic family member 3							89.0	87.0	88.0					X																	136652080		2203	4300	6503	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136652080C>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.1255C>A	X.37:g.136652080C>A	ENSP00000287538:p.Pro419Thr					ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Intron	p.P419T	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN			3	1805	+	Acute lymphoblastic leukemia(192;0.000127)		419					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.1255C>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410573	0.42715	.	.	ENSG00000156925	ENST00000287538	T	0.15256	2.44	5.97	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.15089	0.0364	L	0.38175	1.15	0.80722	D	1	P	0.39809	0.689	B	0.36378	0.223	T	0.01734	-1.1285	10	0.59425	D	0.04	.	13.3782	0.60752	0.0:0.9232:0.0:0.0768	.	419	O60481	ZIC3_HUMAN	T	419	ENSP00000287538:P419T	ENSP00000287538:P419T	P	+	1	0	ZIC3	136479746	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.459000	0.80802	1.270000	0.44297	0.600000	0.82982	CCT		0.403	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			5	156	5	156	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140985097	140985097	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:140985097C>A	ENST00000298296.1	+	7	1553	c.1553C>A	c.(1552-1554)cCc>cAc	p.P518H	MAGEC3_ENST00000536088.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P140H	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	518	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GATATGGACCCCGACAACCAC	0.448																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1552-1554)cCc>cAc		melanoma antigen family C, 3							157.0	152.0	154.0					X																	140985097		2203	4300	6503	SO:0001583	missense	139081							g.chrX:140985097C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1553C>A	X.37:g.140985097C>A	ENSP00000298296:p.Pro518His					MAGEC3_ENST00000536088.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000544766.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P220H|MAGEC3_ENST00000443323.2_Missense_Mutation_p.P140H	p.P518H	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			7	1553	+	Acute lymphoblastic leukemia(192;6.56e-05)		518			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.1553C>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	c	10.26	1.302008	0.23736	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.05319	3.46;3.46;3.46;3.46;3.46	1.25	0.313	0.15842	.	.	.	.	.	T	0.22859	0.0552	M	0.88775	2.98	0.09310	N	1	P;D	0.76494	0.941;0.999	P;D	0.81914	0.8;0.995	T	0.08310	-1.0728	9	0.87932	D	0	.	3.2219	0.06719	0.0:0.683:0.0:0.317	.	518;220	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	H	518;220;140;220;220	ENSP00000298296:P518H;ENSP00000441107:P220H;ENSP00000438254:P140H;ENSP00000440444:P220H;ENSP00000386566:P220H	ENSP00000298296:P518H	P	+	2	0	MAGEC3	140812763	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.434000	0.06939	0.029000	0.15352	0.284000	0.19432	CCC		0.448	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		5	188	5	188	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	147733627	147733627	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:147733627G>T	ENST00000370460.2	+	2	634	c.155G>T	c.(154-156)gGg>gTg	p.G52V	AFF2_ENST00000370457.5_Missense_Mutation_p.G52V|AFF2_ENST00000370458.1_Missense_Mutation_p.G52V|AFF2_ENST00000342251.3_Missense_Mutation_p.G52V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	52					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GATCTTTTTGGGGAGCCATAC	0.368																																						ENST00000370460.2																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(154-156)gGg>gTg		AF4/FMR2 family, member 2							171.0	161.0	164.0					X																	147733627		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:147733627G>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.155G>T	X.37:g.147733627G>T	ENSP00000359489:p.Gly52Val					AFF2_ENST00000370458.1_Missense_Mutation_p.G52V|AFF2_ENST00000370457.5_Missense_Mutation_p.G52V|AFF2_ENST00000342251.3_Missense_Mutation_p.G52V	p.G52V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN			2	634	+	Acute lymphoblastic leukemia(192;6.56e-05)		52					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.155G>T	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188873	0.78789	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19	5.62	5.62	0.85841	.	0.137318	0.46145	D	0.000307	T	0.74527	0.3728	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D	0.77557	0.976;0.976;0.976;0.982;0.99;0.98	T	0.76567	-0.2912	10	0.72032	D	0.01	.	18.6599	0.91469	0.0:0.0:1.0:0.0	.	52;52;52;52;52;52	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	V	52	ENSP00000359489:G52V;ENSP00000359486:G52V;ENSP00000345459:G52V;ENSP00000359487:G52V	ENSP00000345459:G52V	G	+	2	0	AFF2	147541319	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.409000	0.80053	2.350000	0.79820	0.594000	0.82650	GGG		0.368	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		5	182	5	182	---	---	---	---
MAGEA11	4110	broad.mit.edu	37	X	148798186	148798186	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:148798186G>T	ENST00000355220.5	+	5	1142	c.1040G>T	c.(1039-1041)aGg>aTg	p.R347M	MAGEA11_ENST00000333104.4_Missense_Mutation_p.R318M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	347	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TATGCTGGAAGGGAGCACTTC	0.537																																						ENST00000355220.5																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(1039-1041)aGg>aTg		melanoma antigen family A, 11							152.0	152.0	152.0					X																	148798186		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798186G>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1040G>T	X.37:g.148798186G>T	ENSP00000347358:p.Arg347Met					MAGEA11_ENST00000333104.4_Missense_Mutation_p.R318M	p.R347M	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN			5	1142	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		347			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.1040G>T	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	4.289	0.052750	0.08291	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.05258	3.47;3.47	0.909	-0.0176	0.13967	.	.	.	.	.	T	0.08447	0.0210	M	0.73372	2.23	0.09310	N	1	B;B	0.29188	0.198;0.236	B;B	0.34590	0.117;0.186	T	0.36016	-0.9765	8	.	.	.	.	3.0751	0.06243	0.3494:0.0:0.6506:0.0	.	318;347	G5E962;P43364	.;MAGAB_HUMAN	M	318;347	ENSP00000328177:R318M;ENSP00000347358:R347M	.	R	+	2	0	MAGEA11	148576219	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-1.236000	0.02925	-0.082000	0.12640	0.377000	0.23210	AGG		0.537	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		7	251	7	251	---	---	---	---
CNGA2	1260	broad.mit.edu	37	X	150909341	150909341	+	Silent	SNP	C	C	A			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:150909341C>A	ENST00000329903.4	+	4	483	c.450C>A	c.(448-450)ccC>ccA	p.P150P		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	150					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCATGCCCGTCCTTTACA	0.557																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(448-450)ccC>ccA		cyclic nucleotide gated channel alpha 2							178.0	153.0	161.0					X																	150909341		2203	4300	6503	SO:0001819	synonymous_variant	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150909341C>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.450C>A	X.37:g.150909341C>A							p.P150P	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			4	483	+	Acute lymphoblastic leukemia(192;6.56e-05)		150					A0AVD0	Silent	SNP	ENST00000329903.4	37	c.450C>A	CCDS14701.1																																																																																				0.557	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		4	168	4	168	---	---	---	---
