#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KRTAP3-3	85293	broad.mit.edu	37	17	39150283	39150283	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:39150283C>G	ENST00000391586.1	-	1	102	c.67G>C	c.(67-69)Gac>Cac	p.D23H		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	23	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGATTTGTCAGAGGAGCAG	0.582																																						ENST00000391586.1																			0				lung(2)|prostate(2)	4						c.(67-69)Gac>Cac		keratin associated protein 3-3							90.0	90.0	90.0					17																	39150283		2203	4296	6499	SO:0001583	missense	85293					keratin filament	structural molecule activity	g.chr17:39150283C>G	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"""Keratin associated proteins"""	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.67G>C	17.37:g.39150283C>G	ENSP00000375428:p.Asp23His						p.D23H	NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN			1	102	-		Breast(137;0.00043)	23			3 X 5 AA repeats of C-C-X(3).		Q52LP0|Q6NTD4	Missense_Mutation	SNP	ENST00000391586.1	37	c.67G>C	CCDS32643.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342901	0.41498	.	.	ENSG00000212899	ENST00000391586	T	0.34472	1.36	5.62	5.62	0.85841	.	0.095279	0.45606	D	0.000351	T	0.58991	0.2161	.	.	.	0.43448	D	0.995631	D	0.63880	0.993	D	0.64877	0.93	T	0.62181	-0.6908	9	0.87932	D	0	.	15.232	0.73398	0.0:1.0:0.0:0.0	.	23	Q9BYR6	KRA33_HUMAN	H	23	ENSP00000375428:D23H	ENSP00000375428:D23H	D	-	1	0	KRTAP3-3	36403809	0.987000	0.35691	0.614000	0.29051	0.005000	0.04900	3.511000	0.53400	2.652000	0.90054	0.650000	0.86243	GAC		0.582	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1			9	156	0	0	0	0.335167	0	9	156				
RUNX2	860	broad.mit.edu	37	6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(211-213)Cag>Gag		runt-related transcription factor 2							6.0	10.0	9.0					6																	45390482		1279	2789	4068	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390482C>G	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.211C>G	6.37:g.45390482C>G	ENSP00000360493:p.Gln71Glu					RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E	p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	569	+			71			Poly-Gln.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.211C>G	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.985548	0.35036	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	3.45	3.45	0.39498	.	1.972660	0.03402	N	0.203449	T	0.19248	0.0462	N	0.14661	0.345	0.27094	N	0.962779	B;B;B	0.23806	0.033;0.055;0.091	B;B;B	0.20384	0.029;0.013;0.029	T	0.13818	-1.0495	10	0.02654	T	1	.	14.8379	0.70197	0.0:1.0:0.0:0.0	.	139;71;57	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	E	71;139;139;71;71;57;57	ENSP00000420707:Q71E;ENSP00000319087:Q139E;ENSP00000446290:Q139E;ENSP00000360493:Q71E;ENSP00000360491:Q71E;ENSP00000352514:Q57E;ENSP00000360486:Q57E	ENSP00000319087:Q139E	Q	+	1	0	RUNX2	45498460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.268000	0.33062	1.622000	0.50330	0.407000	0.27541	CAG		0.716	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		3	8	0	0	0	0.115264	0	3	8				
KCTD7	154881	broad.mit.edu	37	7	66103989	66103989	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:66103989C>T	ENST00000275532.3	+	4	824	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	KCTD7_ENST00000443322.1_Missense_Mutation_p.R214W	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	214					cell death (GO:0008219)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCGATTTGAGCGGAGTGAGAG	0.567																																						ENST00000275532.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						c.(640-642)Cgg>Tgg		potassium channel tetramerization domain containing 7							131.0	112.0	119.0					7																	66103989		2203	4300	6503	SO:0001583	missense	154881					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr7:66103989C>T	AK056631	CCDS5534.1, CCDS55117.1	7q11.21	2014-09-17	2013-06-20		ENSG00000243335	ENSG00000243335			21957	protein-coding gene	gene with protein product		611725	"""potassium channel tetramerisation domain containing 7"""			12477932	Standard	NM_001167961		Approved	FLJ32069, EPM3, CLN14	uc003tve.3	Q96MP8	OTTHUMG00000129543	ENST00000275532.3:c.640C>T	7.37:g.66103989C>T	ENSP00000275532:p.Arg214Trp					KCTD7_ENST00000443322.1_Missense_Mutation_p.R214W	p.R214W	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN			4	824	+			214					A4D2M4|Q8IVR0	Missense_Mutation	SNP	ENST00000275532.3	37	c.640C>T	CCDS5534.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739238	0.69304	.	.	ENSG00000243335	ENST00000275532;ENST00000443322	T;T	0.78707	-1.2;-1.2	5.56	4.66	0.58398	.	.	.	.	.	T	0.81479	0.4831	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.79885	-0.1614	9	0.35671	T	0.21	.	12.901	0.58125	0.409:0.591:0.0:0.0	.	214	Q96MP8	KCTD7_HUMAN	W	214	ENSP00000275532:R214W;ENSP00000411624:R214W	ENSP00000275532:R214W	R	+	1	2	KCTD7	65741424	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	2.641000	0.46587	1.294000	0.44707	0.591000	0.81541	CGG		0.567	KCTD7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251733.2	NM_153033		4	126	0	0	0	0.184627	0	4	126				
ZNF423	23090	broad.mit.edu	37	16	49669907	49669907	+	Silent	SNP	C	C	T	rs117592972	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr16:49669907C>T	ENST00000561648.1	-	4	3209	c.3156G>A	c.(3154-3156)gcG>gcA	p.A1052A	ZNF423_ENST00000562871.1_Silent_p.A992A|ZNF423_ENST00000567169.1_Silent_p.A935A|ZNF423_ENST00000562520.1_Silent_p.A992A|ZNF423_ENST00000262383.2_Silent_p.A1052A|ZNF423_ENST00000563137.2_Silent_p.A992A|ZNF423_ENST00000535559.1_Silent_p.A935A	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1052					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGGGGAGGACGCCGCTGAGC	0.602													C|||	9	0.00179712	0.0	0.0	5008	,	,		16583	0.0089		0.0	False		,,,				2504	0.0					ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3154-3156)gcG>gcA		zinc finger protein 423		C		2,4396	4.2+/-10.8	0,2,2197	42.0	40.0	41.0		3156	-10.2	0.0	16	dbSNP_132	41	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous	ZNF423	NM_015069.2		0,7,6492	TT,TC,CC		0.0581,0.0455,0.0539		1052/1285	49669907	7,12991	2199	4300	6499	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669907C>T	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3156G>A	16.37:g.49669907C>T						ZNF423_ENST00000567169.1_Silent_p.A935A|ZNF423_ENST00000262383.2_Silent_p.A1052A|ZNF423_ENST00000535559.1_Silent_p.A935A|ZNF423_ENST00000562520.1_Silent_p.A992A|ZNF423_ENST00000563137.2_Silent_p.A992A|ZNF423_ENST00000562871.1_Silent_p.A992A	p.A1052A	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3209	-		all_cancers(37;0.0155)	1052					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.3156G>A	CCDS32445.1																																																																																				0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		4	17	0	0	0	0.150653	0	4	17				
CENPP	401541	broad.mit.edu	37	9	95375385	95375385	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:95375385C>T	ENST00000375587.3	+	8	1336	c.821C>T	c.(820-822)gCt>gTt	p.A274V	IPPK_ENST00000486841.1_5'Flank|CENPP_ENST00000375579.3_Missense_Mutation_p.A101V|CENPP_ENST00000375576.1_Missense_Mutation_p.A88V	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	274					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						ATCGAAGCTGCTCTGGAAAGC	0.473																																						ENST00000375587.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						c.(820-822)gCt>gTt		centromere protein P							121.0	120.0	121.0					9																	95375385		2203	4300	6503	SO:0001583	missense	401541				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr9:95375385C>T	AK091247	CCDS35063.1, CCDS69618.1	9q22.31	2013-11-05			ENSG00000188312	ENSG00000188312			32933	protein-coding gene	gene with protein product		611505				16622419, 16622420	Standard	NM_001286969		Approved	RP11-19J3.3, CENP-P	uc004arz.3	Q6IPU0	OTTHUMG00000020228	ENST00000375587.3:c.821C>T	9.37:g.95375385C>T	ENSP00000364737:p.Ala274Val					CENPP_ENST00000375576.1_Missense_Mutation_p.A88V|CENPP_ENST00000375579.3_Missense_Mutation_p.A101V	p.A274V	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN			8	1336	+			274					B3KRA5|B3KS17|Q5T9F8|Q5T9F9	Missense_Mutation	SNP	ENST00000375587.3	37	c.821C>T	CCDS35063.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887578	0.52014	.	.	ENSG00000188312	ENST00000375587;ENST00000402724;ENST00000375579;ENST00000375576	.	.	.	5.13	5.13	0.70059	.	0.474204	0.20246	N	0.096181	T	0.61751	0.2372	L	0.43923	1.385	0.34390	D	0.694036	P;P	0.41420	0.749;0.749	P;P	0.48368	0.575;0.575	T	0.73329	-0.4017	9	0.72032	D	0.01	-3.2087	17.151	0.86778	0.0:1.0:0.0:0.0	.	101;274	B3KRA5;Q6IPU0	.;CENPP_HUMAN	V	274;233;101;88	.	ENSP00000364726:A88V	A	+	2	0	CENPP	94415206	0.172000	0.23043	0.673000	0.29887	0.141000	0.21300	5.253000	0.65452	2.555000	0.86185	0.462000	0.41574	GCT		0.473	CENPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053098.1	NM_001012267		46	102	0	0	0	0.870114	0	46	102				
NCF4	4689	broad.mit.edu	37	22	37271705	37271705	+	Missense_Mutation	SNP	G	G	A	rs376569226		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr22:37271705G>A	ENST00000248899.6	+	8	822	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	NCF4_ENST00000397147.4_Missense_Mutation_p.R213Q	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	213	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GGCACTGTCCGGGGAGCCACG	0.602																																						ENST00000397147.4																			0				cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						c.(637-639)cGg>cAg		neutrophil cytosolic factor 4, 40kDa		G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	53.0	49.0	50.0		638,638	-0.1	0.7	22		50	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	NCF4	NM_000631.4,NM_013416.3	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	213/340,213/349	37271705	1,13005	2203	4300	6503	SO:0001583	missense	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37271705G>A	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.638G>A	22.37:g.37271705G>A	ENSP00000248899:p.Arg213Gln					NCF4_ENST00000248899.6_Missense_Mutation_p.R213Q	p.R213Q	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN			8	822	+			213			SH3.		A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	c.638G>A	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.325191	0.41197	0.0	1.16E-4	ENSG00000100365	ENST00000447071;ENST00000248899;ENST00000397147	T;T;T	0.30182	1.54;1.54;1.54	4.45	-0.116	0.13555	Src homology-3 domain (4);	0.863409	0.10416	N	0.677245	T	0.17492	0.0420	L	0.31664	0.95	0.09310	N	1	B;B	0.29936	0.262;0.006	B;B	0.22753	0.041;0.019	T	0.21586	-1.0241	10	0.26408	T	0.33	-11.9775	6.2058	0.20602	0.681:0.0:0.319:0.0	.	213;213	A8K4F9;Q15080	.;NCF4_HUMAN	Q	110;213;213	ENSP00000414958:R110Q;ENSP00000248899:R213Q;ENSP00000380334:R213Q	ENSP00000248899:R213Q	R	+	2	0	NCF4	35601651	0.049000	0.20398	0.726000	0.30738	0.975000	0.68041	0.648000	0.24828	0.236000	0.21180	0.650000	0.86243	CGG		0.602	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		5	89	0	0	0	0.248553	0	5	89				
SLITRK1	114798	broad.mit.edu	37	13	84454931	84454931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:84454931G>A	ENST00000377084.2	-	1	1597	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	238	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGACCACTCGGCCGATCAGG	0.522																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(712-714)Cga>Tga		SLIT and NTRK-like family, member 1							57.0	59.0	58.0					13																	84454931		2203	4300	6503	SO:0001587	stop_gained	114798					integral to membrane		g.chr13:84454931G>A	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.712C>T	13.37:g.84454931G>A	ENSP00000366288:p.Arg238*						p.R238*	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	1597	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	238			LRRCT 1.		Q5U5I6|Q96SF9	Nonsense_Mutation	SNP	ENST00000377084.2	37	c.712C>T	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	42	9.797387	0.99267	.	.	ENSG00000178235	ENST00000377084	.	.	.	4.71	2.94	0.34122	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-2.7743	11.6944	0.51536	0.0:0.0:0.4091:0.5909	.	.	.	.	X	238	.	ENSP00000366288:R238X	R	-	1	2	SLITRK1	83352932	0.546000	0.26457	0.995000	0.50966	0.912000	0.54170	0.257000	0.18369	0.571000	0.29365	-0.324000	0.08512	CGA		0.522	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		11	68	0	0	0	0.457914	0	11	68				
SYNDIG1	79953	broad.mit.edu	37	20	24524045	24524045	+	Silent	SNP	C	C	T	rs554961572	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:24524045C>T	ENST00000376862.3	+	2	945	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	104					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CCTGGGGGGACGGTGTGGCCG	0.632													C|||	3	0.000599042	0.0	0.0	5008	,	,		16690	0.0		0.0	False		,,,				2504	0.0031					ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(310-312)gaC>gaT		synapse differentiation inducing 1							62.0	62.0	62.0					20																	24524045		2203	4300	6503	SO:0001819	synonymous_variant	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24524045C>T	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.312C>T	20.37:g.24524045C>T							p.D104D	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			2	945	+			104					Q6IA30|Q9H514	Silent	SNP	ENST00000376862.3	37	c.312C>T	CCDS13164.1																																																																																				0.632	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		4	140	0	0	0	0.248553	0	4	140				
CNR1	1268	broad.mit.edu	37	6	88854141	88854141	+	Missense_Mutation	SNP	C	C	T	rs199892728		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:88854141C>T	ENST00000537554.1	-	2	4415	c.853G>A	c.(853-855)Gta>Ata	p.V285I	CNR1_ENST00000535130.1_Missense_Mutation_p.V285I|CNR1_ENST00000369501.2_Missense_Mutation_p.V285I|CNR1_ENST00000549890.1_Missense_Mutation_p.V285I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.V224I|CNR1_ENST00000369499.2_Missense_Mutation_p.V285I|CNR1_ENST00000468898.1_Missense_Mutation_p.V252I|CNR1_ENST00000428600.2_Missense_Mutation_p.V285I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	285					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGAAGCAGTACGCTGGTGACC	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		23690	0.001		0.0	False		,,,				2504	0.0					ENST00000537554.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37						c.(853-855)Gta>Ata		cannabinoid receptor 1 (brain)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						79.0	69.0	72.0					6																	88854141		2203	4300	6503	SO:0001583	missense	0				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854141C>T	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.853G>A	6.37:g.88854141C>T	ENSP00000441046:p.Val285Ile					CNR1_ENST00000369501.2_Missense_Mutation_p.V285I|CNR1_ENST00000535130.1_Missense_Mutation_p.V285I|CNR1_ENST00000549890.1_Missense_Mutation_p.V285I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.V224I|CNR1_ENST00000468898.1_Missense_Mutation_p.V252I|CNR1_ENST00000369499.2_Missense_Mutation_p.V285I|CNR1_ENST00000428600.2_Missense_Mutation_p.V285I	p.V285I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	4415	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	285					B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.853G>A	CCDS5015.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.036	0.561557	0.13498	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	6.05	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.056852	0.64402	D	0.000001	T	0.32071	0.0817	N	0.11560	0.145	0.51233	D	0.999918	B;B	0.11235	0.003;0.004	B;B	0.15484	0.006;0.013	T	0.16100	-1.0414	10	0.39692	T	0.17	.	10.3084	0.43693	0.0:0.7115:0.1084:0.1801	.	252;285	P21554-3;P21554	.;CNR1_HUMAN	I	285;285;285;285;285;252;285;224	ENSP00000358513:V285I;ENSP00000442689:V285I;ENSP00000441046:V285I;ENSP00000358511:V285I;ENSP00000446819:V285I;ENSP00000420188:V252I;ENSP00000412192:V285I;ENSP00000449549:V224I	ENSP00000358511:V285I	V	-	1	0	CNR1	88910860	0.934000	0.31675	0.973000	0.42090	0.495000	0.33615	1.608000	0.36847	0.895000	0.36342	-0.119000	0.15052	GTA		0.507	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			11	49	0	0	0	0.411799	0	11	49				
DNMT3L	29947	broad.mit.edu	37	21	45679320	45679320	+	Splice_Site	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:45679320C>T	ENST00000418993.1	-	5	827	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	DNMT3L_ENST00000270172.3_Splice_Site_p.R115Q	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	115	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTCGCCTCACCGGGTGCAATC	0.587																																						ENST00000270172.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11						c.e5+1		DNA (cytosine-5-)-methyltransferase 3-like							70.0	70.0	70.0					21																	45679320		2203	4300	6503	SO:0001630	splice_region_variant	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45679320C>T	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.344+1G>A	21.37:g.45679320C>T						DNMT3L_ENST00000418993.1_Splice_Site_p.R115_splice	p.R115_splice	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	5	827	-			115			ADD.		E9PB42|Q9BUJ4	Splice_Site	SNP	ENST00000418993.1	37	c.344_splice	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954605	0.92726	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.76578	-1.03;-1.03;-1.03	4.26	4.26	0.50523	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.87501	0.6193	M	0.83483	2.645	0.51233	D	0.999916	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.88255	0.2919	9	.	.	.	-13.514	12.3566	0.55178	0.0:1.0:0.0:0.0	.	115;115	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	Q	115;115;100	ENSP00000270172:R115Q;ENSP00000412862:R115Q;ENSP00000400242:R100Q	.	R	-	2	0	DNMT3L	44503748	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.828000	0.69307	2.364000	0.80123	0.585000	0.79938	CGA		0.587	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369	Missense_Mutation	18	63	0	0	0	0.592651	0	18	63				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	181	0	0	0	0.248553	0	3	181				
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:124857495A>C	ENST00000344762.5	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000529051.1_Missense_Mutation_p.H458P	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418													C|||	6	0.00119808	0.0008	0.0	5008	,	,		19182	0.005		0.0	False		,,,				2504	0.0					ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1372-1374)cAc>cCc		coiled-coil domain containing 15		C	PRO/HIS	5,3679		0,5,1837	109.0	105.0	106.0		1373	-1.4	0.0	11	dbSNP_132	106	0,8170		0,0,4085	yes	missense	CCDC15	NM_025004.2	77	0,5,5922	CC,CA,AA		0.0,0.1357,0.0422	benign	458/952	124857495	5,11849	1842	4085	5927	SO:0001583	missense	80071					centrosome		g.chr11:124857495A>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1373A>C	11.37:g.124857495A>C	ENSP00000341684:p.His458Pro					CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P	p.H458P			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1632	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	458					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1373A>C	CCDS44756.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	0.007	-1.935858	0.00484	0.001357	0.0	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29142	1.6;1.58	3.32	-1.4	0.08968	.	.	.	.	.	T	0.04272	0.0118	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	9	0.02654	T	1	0.0636	3.381	0.07255	0.5595:0.2054:0.1382:0.0969	.	458	Q0P6D6	CCD15_HUMAN	P	458	ENSP00000435403:H458P;ENSP00000341684:H458P	ENSP00000341684:H458P	H	+	2	0	CCDC15	124362705	.	.	0.000000	0.03702	0.085000	0.17905	.	.	-0.576000	0.05974	-0.215000	0.12644	CAC		0.418	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		3	113	0	0	0	0.115264	0	3	113				
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	85								p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.N85D(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(253-255)Aat>Gat																																						SO:0001583	missense	0							g.chr20:29628251A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.253A>G	20.37:g.29628251A>G	ENSP00000278882:p.Asn85Asp					FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D	p.N85D							6	633	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.253A>G		.	.	.	.	.	.	.	.	.	.	a	15.78	2.933773	0.52866	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	.	.	.	0.45390	D	0.998378	B;B	0.26809	0.086;0.16	B;B	0.40329	0.326;0.253	T	0.51553	-0.8691	9	0.66056	D	0.02	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	90;85	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	D	85;90;85	ENSP00000408863:N90D	ENSP00000278882:N85D	N	+	1	0	FRG1B	28241912	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	8.047000	0.89440	1.208000	0.43306	0.347000	0.21830	AAT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	172	0	0	0	0.411799	0	4	172				
ASTN1	460	broad.mit.edu	37	1	177030386	177030386	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:177030386G>C	ENST00000367654.3	-	2	510	c.299C>G	c.(298-300)aCa>aGa	p.T100R	ASTN1_ENST00000424564.2_Missense_Mutation_p.T100R|ASTN1_ENST00000361833.2_Missense_Mutation_p.T100R|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.T100R	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	100					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						GATATCCTCTGTGTTCCCTGA	0.488																																						ENST00000367654.2																			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.(298-300)aCa>aGa		astrotactin 1							135.0	127.0	130.0					1																	177030386		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030386G>C	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.299C>G	1.37:g.177030386G>C	ENSP00000356626:p.Thr100Arg					ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.T100R|ASTN1_ENST00000424564.2_Missense_Mutation_p.T100R|ASTN1_ENST00000367657.3_Missense_Mutation_p.T100R	p.T100R			O14525	ASTN1_HUMAN			2	312	-			100					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.299C>G		.	.	.	.	.	.	.	.	.	.	G	18.34	3.602112	0.66445	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15139	2.45;2.87;2.87;2.46	6.06	6.06	0.98353	.	0.058147	0.64402	D	0.000001	T	0.21801	0.0525	N	0.22421	0.69	0.80722	D	1	P;P;P	0.49090	0.919;0.919;0.919	P;P;P	0.48704	0.587;0.587;0.587	T	0.00402	-1.1762	10	0.72032	D	0.01	-8.8149	20.2159	0.98296	0.0:0.0:1.0:0.0	.	100;100;100	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	R	100	ENSP00000356629:T100R;ENSP00000354536:T100R;ENSP00000356626:T100R;ENSP00000395041:T100R	ENSP00000354536:T100R	T	-	2	0	ASTN1	175297009	1.000000	0.71417	0.984000	0.44739	0.999000	0.98932	9.689000	0.98673	2.882000	0.98803	0.655000	0.94253	ACA		0.488	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		3	148	0	0	0	0.115264	0	3	148				
GLI2	2736	broad.mit.edu	37	2	121726332	121726332	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:121726332G>A	ENST00000452319.1	+	6	746	c.686G>A	c.(685-687)cGc>cAc	p.R229H	GLI2_ENST00000361492.4_Missense_Mutation_p.R229H|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGCCTGAGCCGCAAGCGGGCG	0.637																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(685-687)cGc>cAc		GLI family zinc finger 2							70.0	68.0	69.0					2																	121726332		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121726332G>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.686G>A	2.37:g.121726332G>A	ENSP00000390436:p.Arg229His					GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R229H|GLI2_ENST00000314490.11_5'UTR	p.R229H			P10070	GLI2_HUMAN			6	746	+	Renal(3;0.0496)	Prostate(154;0.0623)	229						Missense_Mutation	SNP	ENST00000452319.1	37	c.686G>A	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	G	35	5.579154	0.96565	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.70631	-0.5;-0.5	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.85635	0.5742	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.991;0.996	D	0.87826	0.2641	10	0.87932	D	0	.	18.2868	0.90117	0.0:0.0:1.0:0.0	.	229;229	P10070;Q0VGA0	GLI2_HUMAN;.	H	229	ENSP00000390436:R229H;ENSP00000354586:R229H	ENSP00000354586:R229H	R	+	2	0	GLI2	121442802	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.766000	0.85320	2.557000	0.86248	0.655000	0.94253	CGC		0.637	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		11	129	0	0	0	0.435327	0	11	129				
BPIFB3	359710	broad.mit.edu	37	20	31643347	31643347	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:31643347G>A	ENST00000375494.3	+	1	118	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	AL121756.1_ENST00000579962.1_RNA	NM_182658.1	NP_872599.1	P59826	BPIB3_HUMAN	BPI fold containing family B, member 3	40	Leu-rich.				innate immune response (GO:0045087)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										GGATGAACTCGGCAAAGGTGA	0.577																																						ENST00000375494.3																			0											c.(118-120)Ggc>Agc		BPI fold containing family B, member 3							76.0	72.0	73.0					20																	31643347		2203	4300	6503	SO:0001583	missense	359710				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding	g.chr20:31643347G>A	AF549189	CCDS13212.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186190	ENSG00000186190		"""BPI fold containing"""	16178	protein-coding gene	gene with protein product		615717	"""chromosome 20 open reading frame 185"""	C20orf185		11971875, 21787333	Standard	NM_182658		Approved	dJ726C3.4, LPLUNC3, RYA3	uc002wym.1	P59826	OTTHUMG00000032234	ENST00000375494.3:c.118G>A	20.37:g.31643347G>A	ENSP00000364643:p.Gly40Ser						p.G40S	NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN			1	118	+			40			Leu-rich.		Q5TDX7	Missense_Mutation	SNP	ENST00000375494.3	37	c.118G>A	CCDS13212.1	.	.	.	.	.	.	.	.	.	.	G	7.659	0.684494	0.14973	.	.	ENSG00000186190	ENST00000375494	T	0.05258	3.47	4.69	1.72	0.24424	.	0.392015	0.21683	N	0.070682	T	0.02888	0.0086	N	0.15975	0.35	0.24075	N	0.995962	B	0.06786	0.001	B	0.06405	0.002	T	0.47573	-0.9107	10	0.06365	T	0.9	-8.4809	6.67	0.23064	0.2955:0.0:0.7045:0.0	.	40	P59826	BPIB3_HUMAN	S	40	ENSP00000364643:G40S	ENSP00000364643:G40S	G	+	1	0	BPIFB3	31107008	0.870000	0.30015	0.606000	0.28943	0.842000	0.47809	0.795000	0.26972	0.232000	0.21100	-0.126000	0.14955	GGC		0.577	BPIFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078654.2	NM_182658		20	55	0	0	0	0.667858	0	20	55				
CCDC170	80129	broad.mit.edu	37	6	151917594	151917594	+	Missense_Mutation	SNP	C	C	T	rs201487502	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:151917594C>T	ENST00000239374.7	+	9	1691	c.1592C>T	c.(1591-1593)gCg>gTg	p.A531V	CCDC170_ENST00000367290.5_Missense_Mutation_p.A531V	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	531																	AGGGACAACGCGCATCTTACC	0.552													C|||	4	0.000798722	0.0	0.0	5008	,	,		17323	0.0		0.001	False		,,,				2504	0.0031					ENST00000367290.5																			0											c.(1591-1593)gCg>gTg		coiled-coil domain containing 170							86.0	95.0	92.0					6																	151917594		2160	4261	6421	SO:0001583	missense	80129							g.chr6:151917594C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1592C>T	6.37:g.151917594C>T	ENSP00000239374:p.Ala531Val					CCDC170_ENST00000239374.7_Missense_Mutation_p.A531V	p.A531V			Q8IYT3	CF097_HUMAN			9	1681	+			531					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.1592C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199521	0.38806	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10192	2.9;2.9	5.48	3.69	0.42338	.	0.194904	0.43416	D	0.000579	T	0.18718	0.0449	M	0.79805	2.47	0.46725	D	0.999171	D	0.71674	0.998	P	0.61592	0.891	T	0.01096	-1.1453	10	0.36615	T	0.2	-2.8907	14.1374	0.65295	0.0:0.8264:0.1098:0.0638	.	531	Q8IYT3	CF097_HUMAN	V	531	ENSP00000239374:A531V;ENSP00000356259:A531V	ENSP00000239374:A531V	A	+	2	0	C6orf97	151959287	0.999000	0.42202	0.009000	0.14445	0.000000	0.00434	3.495000	0.53280	0.294000	0.22547	-0.797000	0.03246	GCG		0.552	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		35	64	0	0	0	0.834066	0	35	64				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		11	174	0	0	0	0.500413	0	11	174				
ZNF317	57693	broad.mit.edu	37	19	9271565	9271565	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:9271565A>G	ENST00000247956.6	+	7	1549	c.1244A>G	c.(1243-1245)aAg>aGg	p.K415R	ZNF317_ENST00000360385.3_Missense_Mutation_p.K383R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	415					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(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACATCGTCAAGAAACCCGTG	0.502																																						ENST00000247956.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						c.(1243-1245)aAg>aGg		zinc finger protein 317							77.0	78.0	78.0					19																	9271565		2203	4300	6503	SO:0001583	missense	57693				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9271565A>G	AF275255	CCDS12210.1, CCDS54213.1	19p13	2013-01-08				ENSG00000130803		"""Zinc fingers, C2H2-type"", ""-"""	13507	protein-coding gene	gene with protein product		613864				10997877, 11688974	Standard	NM_020933		Approved		uc002mku.3	Q96PQ6		ENST00000247956.6:c.1244A>G	19.37:g.9271565A>G	ENSP00000247956:p.Lys415Arg					ZNF317_ENST00000360385.3_Missense_Mutation_p.K383R	p.K415R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN			7	1549	+			415					Q6DCA9|Q96PM0|Q96PM1|Q96PT2|Q9HCI4	Missense_Mutation	SNP	ENST00000247956.6	37	c.1244A>G	CCDS12210.1	.	.	.	.	.	.	.	.	.	.	A	12.82	2.053851	0.36277	.	.	ENSG00000130803	ENST00000247956;ENST00000360385	T;T	0.20463	2.07;2.07	2.92	2.92	0.33932	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44483	D	0.000444	T	0.16769	0.0403	L	0.31157	0.91	0.32371	N	0.55587	P;B	0.50528	0.936;0.057	P;B	0.44477	0.451;0.032	T	0.17899	-1.0354	10	0.87932	D	0	-32.619	9.5634	0.39383	1.0:0.0:0.0:0.0	.	383;415	Q96PQ6-2;Q96PQ6	.;ZN317_HUMAN	R	415;383	ENSP00000247956:K415R;ENSP00000353554:K383R	ENSP00000247956:K415R	K	+	2	0	ZNF317	9132565	1.000000	0.71417	0.548000	0.28192	0.662000	0.39071	4.559000	0.60796	1.592000	0.50018	0.402000	0.26972	AAG		0.502	ZNF317-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448995.1	NM_020933		24	42	0	0	0	0.729181	0	24	42				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	77	0	0	0	0.115264	0	3	77				
HLA-E	3133	broad.mit.edu	37	6	30459140	30459140	+	Silent	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:30459140G>C	ENST00000376630.4	+	4	902	c.837G>C	c.(835-837)acG>acC	p.T279T		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	279	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class Ib (GO:0002476)|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)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of natural killer cell mediated immunity (GO:0002717)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protection from natural killer cell mediated cytotoxicity (GO:0042270)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	MHC class I protein binding (GO:0042288)|peptide antigen binding (GO:0042605)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						AGAGATACACGTGCCATGTGC	0.622																																						ENST00000376630.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						c.(835-837)acG>acC		major histocompatibility complex, class I, E							95.0	83.0	87.0					6																	30459140		1511	2709	4220	SO:0001819	synonymous_variant	3133				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.chr6:30459140G>C	M20022	CCDS34379.1	6p21.3	2013-01-11			ENSG00000204592	ENSG00000204592		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4962	protein-coding gene	gene with protein product		143010				3131426	Standard	NM_005516		Approved		uc003nqg.3	P13747	OTTHUMG00000031155	ENST00000376630.4:c.837G>C	6.37:g.30459140G>C							p.T279T	NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN			4	902	+			279			Alpha-3.|Ig-like C1-type.		Q30169|Q9BT83|Q9GIY7|Q9GIY8	Silent	SNP	ENST00000376630.4	37	c.837G>C	CCDS34379.1																																																																																				0.622	HLA-E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076282.2	NM_005516		3	104	0	0	0	0.115264	0	3	104				
UROC1	131669	broad.mit.edu	37	3	126207086	126207086	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:126207086C>T	ENST00000290868.2	-	18	1798	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H	UROC1_ENST00000383579.3_Missense_Mutation_p.R642H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	582					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GGTGGCTCCGCGACAGGCATC	0.612																																						ENST00000290868.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39						c.(1744-1746)cGc>cAc		urocanate hydratase 1							133.0	131.0	132.0					3																	126207086		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126207086C>T	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1745G>A	3.37:g.126207086C>T	ENSP00000290868:p.Arg582His					UROC1_ENST00000383579.3_Missense_Mutation_p.R642H	p.R582H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	18	1798	-			582					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1745G>A	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293710	0.80914	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.46451	0.87;0.87	5.46	5.46	0.80206	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	H	0.95745	3.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.83235	-0.0061	10	0.87932	D	0	-13.3842	16.7908	0.85589	0.0:1.0:0.0:0.0	.	642;582	E9PE13;Q96N76	.;HUTU_HUMAN	H	582;642	ENSP00000290868:R582H;ENSP00000373073:R642H	ENSP00000290868:R582H	R	-	2	0	UROC1	127689776	1.000000	0.71417	0.741000	0.31004	0.419000	0.31324	6.909000	0.75735	2.555000	0.86185	0.591000	0.81541	CGC		0.612	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		6	175	0	0	0	0.248553	0	6	175				
TBX3	6926	broad.mit.edu	37	12	115109857	115109857	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr12:115109857A>C	ENST00000257566.3	-	8	2410	c.2021T>G	c.(2020-2022)gTc>gGc	p.V674G	TBX3_ENST00000349155.2_Missense_Mutation_p.V654G	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	674	Transcription repression.			V -> A (in Ref. 1; AAD50989). {ECO:0000305}.	anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CAGGGCGGCGACTTTGCCGTC	0.721																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1960-1962)gTc>gGc		T-box 3							9.0	9.0	9.0					12																	115109857		2131	4138	6269	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115109857A>C	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.2021T>G	12.37:g.115109857A>C	ENSP00000257566:p.Val674Gly					TBX3_ENST00000257566.3_Missense_Mutation_p.V674G	p.V654G	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	7	2924	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		674			Transcription repression.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1961T>G	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	A	4.609	0.113265	0.08831	.	.	ENSG00000135111	ENST00000349155;ENST00000257566	D;D	0.87029	-2.2;-2.18	4.71	2.84	0.33178	.	2.694230	0.02726	N	0.114561	T	0.70343	0.3213	N	0.01874	-0.695	0.41446	D	0.987954	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.57365	-0.7824	10	0.16420	T	0.52	.	6.742	0.23441	0.1734:0.1453:0.6813:0.0	.	654;674	O15119-2;O15119	.;TBX3_HUMAN	G	654;674	ENSP00000257567:V654G;ENSP00000257566:V674G	ENSP00000257566:V674G	V	-	2	0	TBX3	113594240	0.198000	0.23374	0.943000	0.38184	0.312000	0.27988	2.574000	0.46016	0.399000	0.25367	-0.242000	0.12053	GTC		0.721	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		2	10	0	0	0	0.115264	0	2	10				
IMPACT	55364	broad.mit.edu	37	18	22008832	22008832	+	Splice_Site	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:22008832G>A	ENST00000284202.4	+	3	306		c.e3-1		Y_RNA_ENST00000362766.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein						negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CTGCATTGTAGGTGATGCTGC	0.373																																						ENST00000284202.4																			0				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16						c.e3-1		impact RWD domain protein							123.0	109.0	114.0					18																	22008832		2203	4300	6503	SO:0001630	splice_region_variant	55364							g.chr18:22008832G>A	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.166-1G>A	18.37:g.22008832G>A								NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN			3	306	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)							A8MXG0|Q49AM0|Q9H2X4	Splice_Site	SNP	ENST00000284202.4	37		CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124245	0.56613	.	.	ENSG00000154059	ENST00000284202	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.304	0.87190	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IMPACT	20262830	1.000000	0.71417	0.998000	0.56505	0.733000	0.41908	7.361000	0.79497	2.434000	0.82447	0.561000	0.74099	.		0.373	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439	Intron	6	50	0	0	0	0.307466	0	6	50				
CGNL1	84952	broad.mit.edu	37	15	57837818	57837818	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr15:57837818C>T	ENST00000281282.5	+	17	3607	c.3529C>T	c.(3529-3531)Cgg>Tgg	p.R1177W		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1177						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCTCAGCAACCGGCGGCTGGA	0.602																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(3529-3531)Cgg>Tgg		cingulin-like 1							48.0	38.0	42.0					15																	57837818		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57837818C>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.3529C>T	15.37:g.57837818C>T	ENSP00000281282:p.Arg1177Trp						p.R1177W	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	17	3607	+			1177					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.3529C>T	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512031	0.85389	.	.	ENSG00000128849	ENST00000281282	D	0.86497	-2.13	5.39	4.39	0.52855	Myosin tail (1);	0.000000	0.45606	D	0.000346	D	0.95101	0.8413	M	0.93328	3.405	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.96272	0.9199	10	0.87932	D	0	-18.1864	16.8173	0.85737	0.1373:0.8627:0.0:0.0	.	1177	Q0VF96	CGNL1_HUMAN	W	1177	ENSP00000281282:R1177W	ENSP00000281282:R1177W	R	+	1	2	CGNL1	55625110	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	4.876000	0.63079	2.526000	0.85167	0.563000	0.77884	CGG		0.602	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		3	32	0	0	0	0.115264	0	3	32				
CSMD1	64478	broad.mit.edu	37	8	2806884	2806884	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr8:2806884C>A	ENST00000520002.1	-	69	10897	c.10342G>T	c.(10342-10344)Gga>Tga	p.G3448*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3447*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3270*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3448*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3448						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)		AAAGTAAATCCTCCTCTTTCA	0.318																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(10342-10344)Gga>Tga		CUB and Sushi multiple domains 1							93.0	84.0	86.0					8																	2806884		1806	4070	5876	SO:0001587	stop_gained	64478					integral to membrane		g.chr8:2806884C>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.10342G>T	8.37:g.2806884C>A	ENSP00000430733:p.Gly3448*					CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3270*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3447*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3448*	p.G3448*			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)	69	10897	-		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)	3448					Q0H0J5|Q96QU9|Q96RM4	Nonsense_Mutation	SNP	ENST00000520002.1	37	c.10342G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	17.101370|17.101370	0.99879|0.99879	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.222920|.	0.38326|.	N|.	0.001725|.	.|T	.|0.70675	.|0.3251	.|.	.|.	.|.	0.46981|0.46981	D|D	0.999278|0.999278	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68187	.|-0.5475	.|4	0.62326|.	D|.	0.03|.	.|.	14.1878|14.1878	0.65617|0.65617	0.0:0.9283:0.0:0.0717|0.0:0.9283:0.0:0.0717	.|.	.|.	.|.	.|.	X|M	3271;3448;3309;3447;3270|2849	.|.	ENSP00000320445:G3309X|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	2794291|2794291	0.019000|0.019000	0.18553|0.18553	0.963000|0.963000	0.40424|0.40424	0.054000|0.054000	0.15201|0.15201	1.637000|1.637000	0.37155|0.37155	2.783000|2.783000	0.95769|0.95769	0.637000|0.637000	0.83480|0.83480	GGA|AGG		0.318	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		14	32	1	0	0.0202918	0.457914	0.0209535	14	32				
IMPA1	3612	broad.mit.edu	37	8	82591382	82591382	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr8:82591382C>T	ENST00000256108.5	-	4	746	c.281G>A	c.(280-282)gGa>gAa	p.G94E	IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.G153E|IMPA1_ENST00000311489.4_Missense_Mutation_p.G94E	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	94	Substrate binding. {ECO:0000269|PubMed:8068620, ECO:0000303|PubMed:8068621}.				inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	GTTAGTTGTTCCATCAATAGG	0.353																																						ENST00000256108.5																			0				NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18						c.(280-282)gGa>gAa		inositol(myo)-1(or 4)-monophosphatase 1	Lithium(DB01356)						119.0	119.0	119.0					8																	82591382		2203	4300	6503	SO:0001583	missense	3612				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity	g.chr8:82591382C>T		CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.281G>A	8.37:g.82591382C>T	ENSP00000256108:p.Gly94Glu					IMPA1_ENST00000449740.2_Missense_Mutation_p.G153E|IMPA1_ENST00000311489.4_Missense_Mutation_p.G94E|IMPA1_ENST00000523710.1_5'UTR	p.G94E	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN			4	746	-			94			Substrate binding.		B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	ENST00000256108.5	37	c.281G>A	CCDS6231.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.785967|4.785967	0.90282|0.90282	.|.	.|.	ENSG00000133731|ENSG00000133731	ENST00000256108;ENST00000311489;ENST00000449740;ENST00000519964;ENST00000522997;ENST00000518202|ENST00000523942	D;D;D;D;D;D|.	0.87809|.	-2.15;-2.3;-2.15;-2.3;-2.3;-2.3|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.92384|.	0.7583|.	H|H	0.99906|0.99906	4.925|4.925	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;1.0;1.0|.	D|.	0.96355|.	0.9261|.	10|.	0.87932|.	D|.	0|.	-0.1495|-0.1495	18.0211|18.0211	0.89254|0.89254	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	94;153;94|.	B4DLN3;B7Z6Q4;P29218|.	.;.;IMPA1_HUMAN|.	E|X	94;94;153;86;153;94|118	ENSP00000256108:G94E;ENSP00000311803:G94E;ENSP00000408526:G153E;ENSP00000429322:G86E;ENSP00000430081:G153E;ENSP00000429516:G94E|.	ENSP00000256108:G94E|.	G|W	-|-	2|3	0|0	IMPA1|IMPA1	82753937|82753937	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.985000|0.985000	0.73830|0.73830	6.968000|6.968000	0.76086|0.76086	2.325000|2.325000	0.78763|0.78763	0.549000|0.549000	0.68633|0.68633	GGA|TGG		0.353	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379723.1			22	55	0	0	0	0.639603	0	22	55				
ARID1B	57492	broad.mit.edu	37	6	157454170	157454170	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:157454170G>A	ENST00000350026.5	+	7	2342	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	ARID1B_ENST00000275248.4_Missense_Mutation_p.A723T|ARID1B_ENST00000367148.1_Missense_Mutation_p.A781T|ARID1B_ENST00000346085.5_Missense_Mutation_p.A794T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	781					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGGTTTTATGGCAGGCACACA	0.468																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(2380-2382)Gca>Aca		AT rich interactive domain 1B (SWI1-like)							76.0	73.0	74.0					6																	157454170		2203	4300	6503	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157454170G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.2341G>A	6.37:g.157454170G>A	ENSP00000055163:p.Ala781Thr					ARID1B_ENST00000367148.1_Missense_Mutation_p.A781T|ARID1B_ENST00000275248.4_Missense_Mutation_p.A723T|ARID1B_ENST00000350026.5_Missense_Mutation_p.A781T	p.A794T	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	8	2381	+		Breast(66;0.000162)|Ovarian(120;0.0265)	781					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.2380G>A	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328331	0.41197	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.20069	4.84;4.84;4.82;4.82;2.1;2.31	6.06	2.88	0.33553	.	0.293998	0.33572	N	0.004763	T	0.03263	0.0095	N	0.08118	0	0.24134	N	0.99575	B;B;B;B	0.21147	0.052;0.001;0.002;0.002	B;B;B;B	0.16722	0.016;0.002;0.005;0.005	T	0.37430	-0.9706	10	0.42905	T	0.14	.	8.0182	0.30393	0.1985:0.0:0.6832:0.1183	.	165;781;794;723	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	T	794;781;781;723;165;250;203	ENSP00000344546:A794T;ENSP00000055163:A781T;ENSP00000356116:A781T;ENSP00000275248:A723T;ENSP00000412835:A250T;ENSP00000313006:A203T	ENSP00000275248:A723T	A	+	1	0	ARID1B	157495862	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	0.996000	0.29719	0.867000	0.35654	0.655000	0.94253	GCA		0.468	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		15	46	0	0	0	0.592651	0	15	46				
TLX1NB	100038246	broad.mit.edu	37	10	102849597	102849597	+	Silent	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:102849597G>A	ENST00000445873.1	-	3	1342	c.66C>T	c.(64-66)ctC>ctT	p.L22L	TLX1NB_ENST00000425505.1_5'Flank	NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	22																	CTTGGGAAAGGAGAGAGTGCT	0.662																																						ENST00000445873.1																			0											c.(64-66)ctC>ctT		TLX1 neighbor							15.0	18.0	17.0					10																	102849597		1919	4112	6031	SO:0001819	synonymous_variant	100038246							g.chr10:102849597G>A	BC019674	CCDS60615.1	10q24	2014-04-01			ENSG00000236311	ENSG00000236311			37183	protein-coding gene	gene with protein product		612734				17303350	Standard	NM_001085398		Approved	TD1, TDI, APT-B7	uc001ksv.3	P0CAT3	OTTHUMG00000018925	ENST00000445873.1:c.66C>T	10.37:g.102849597G>A							p.L22L	NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN			3	1342	-			22						Silent	SNP	ENST00000445873.1	37	c.66C>T																																																																																					0.662	TLX1NB-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000049925.2	NM_001085398		8	11	0	0	0	0.335167	0	8	11				
TSPAN4	7106	broad.mit.edu	37	11	864455	864455	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(274-276)Ctg>Gtg		tetraspanin 4							98.0	95.0	96.0					11																	864455		2203	4299	6502	SO:0001583	missense	0				protein complex assembly	integral to plasma membrane		g.chr11:864455C>G	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.274C>G	11.37:g.864455C>G	ENSP00000380553:p.Leu92Val					TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V	p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	533	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	c.274C>G	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	7.339	0.620549	0.14193	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531;ENST00000527644	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	3.04	1.98	0.26296	.	0.388801	0.23310	N	0.049564	T	0.54431	0.1858	N	0.04508	-0.205	0.32506	N	0.538191	B	0.12013	0.005	B	0.15870	0.014	T	0.53493	-0.8431	10	0.17369	T	0.5	.	6.829	0.23898	0.4405:0.5595:0.0:0.0	.	92	O14817	TSN4_HUMAN	V	92;92;28;92;28;92;92;28;92;28;92;111;92	ENSP00000380552:L92V;ENSP00000380558:L92V;ENSP00000380551:L28V;ENSP00000380555:L92V;ENSP00000433980:L28V;ENSP00000380554:L92V;ENSP00000386513:L92V;ENSP00000431943:L28V;ENSP00000380553:L92V;ENSP00000434818:L28V;ENSP00000324304:L92V;ENSP00000386899:L111V;ENSP00000436260:L92V	ENSP00000324304:L92V	L	+	1	2	TSPAN4	854455	0.162000	0.22906	1.000000	0.80357	0.819000	0.46315	0.131000	0.15870	1.557000	0.49525	0.313000	0.20887	CTG		0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			4	144	0	0	0	0.307466	0	4	144				
DPP10	57628	broad.mit.edu	37	2	116520170	116520170	+	Missense_Mutation	SNP	C	C	T	rs201296031		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:116520170C>T	ENST00000410059.1	+	12	1577	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	DPP10_ENST00000409163.1_Missense_Mutation_p.T316M|DPP10_ENST00000393147.2_Missense_Mutation_p.T370M|DPP10_ENST00000310323.8_Missense_Mutation_p.T359M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	366						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACATCAGATACGTGGCTCTCT	0.353																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1096-1098)aCg>aTg		dipeptidyl-peptidase 10 (non-functional)		C	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	196.0	185.0	189.0		1076,1109,947,1085,1097	4.0	1.0	2		189	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	81,81,81,81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign,benign,benign	359/790,370/801,316/747,362/793,366/797	116520170	2,13004	2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116520170C>T	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1097C>T	2.37:g.116520170C>T	ENSP00000386565:p.Thr366Met					DPP10_ENST00000310323.8_Missense_Mutation_p.T359M|DPP10_ENST00000409163.1_Missense_Mutation_p.T316M|DPP10_ENST00000393147.2_Missense_Mutation_p.T370M	p.T366M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			12	1577	+			366					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1097C>T	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457721	0.43634	0.0	2.33E-4	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.99	4.04	0.47022	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.327598	0.28482	N	0.015182	T	0.14787	0.0357	N	0.14661	0.345	0.30283	N	0.791111	P;P;P;P	0.48694	0.789;0.914;0.824;0.824	B;B;B;B	0.39379	0.197;0.194;0.298;0.298	T	0.07424	-1.0773	10	0.62326	D	0.03	-16.0613	4.604	0.12368	0.0:0.7417:0.0:0.2583	.	359;370;362;366	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	M	366;316;370;359;316	ENSP00000386565:T366M;ENSP00000387038:T316M;ENSP00000376855:T370M;ENSP00000309066:T359M	ENSP00000309066:T359M	T	+	2	0	DPP10	116236640	0.997000	0.39634	0.956000	0.39512	0.931000	0.56810	3.754000	0.55189	2.604000	0.88044	0.555000	0.69702	ACG		0.353	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		32	115	0	0	0	0.812448	0	32	115				
MMP3	4314	broad.mit.edu	37	11	102710883	102710883	+	Silent	SNP	A	A	G	rs150024311		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:102710883A>G	ENST00000299855.5	-	6	1147	c.891T>C	c.(889-891)gaT>gaC	p.D297D		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	297					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TGCTGACAGCATCAAAGGACA	0.493																																						ENST00000299855.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(889-891)gaT>gaC		matrix metallopeptidase 3 (stromelysin 1, progelatinase)	Marimastat(DB00786)|Simvastatin(DB00641)	A		0,4406		0,0,2203	75.0	80.0	78.0		891	-4.0	0.2	11	dbSNP_134	78	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	MMP3	NM_002422.3		0,2,6500	GG,GA,AA		0.0233,0.0,0.0154		297/478	102710883	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	4314				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102710883A>G	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.891T>C	11.37:g.102710883A>G							p.D297D	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0142)	6	1147	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	297			Hemopexin-like 1.		B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP	ENST00000299855.5	37	c.891T>C	CCDS8323.1																																																																																				0.493	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422		4	134	0	0	0	0.217242	0	4	134				
IPMK	253430	broad.mit.edu	37	10	59975932	59975932	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:59975932T>C	ENST00000373935.3	-	4	842	c.520A>G	c.(520-522)Att>Gtt	p.I174V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	174					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AAGAACCCAATCTCTTCCATT	0.388																																						ENST00000373935.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						c.(520-522)Att>Gtt		inositol polyphosphate multikinase							98.0	90.0	93.0					10																	59975932		2203	4300	6503	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59975932T>C	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.520A>G	10.37:g.59975932T>C	ENSP00000363046:p.Ile174Val						p.I174V	NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN			4	842	-			174						Missense_Mutation	SNP	ENST00000373935.3	37	c.520A>G	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	T	18.75	3.690782	0.68271	.	.	ENSG00000151151	ENST00000373935	T	0.18016	2.24	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.24509	0.0594	L	0.49126	1.545	0.49582	D	0.999804	P	0.37207	0.587	P	0.45406	0.479	T	0.01635	-1.1307	9	.	.	.	-8.2763	13.9987	0.64419	0.0:0.0:0.0:1.0	.	174	Q8NFU5	IPMK_HUMAN	V	174	ENSP00000363046:I174V	.	I	-	1	0	IPMK	59645938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.931000	0.87625	2.182000	0.69389	0.533000	0.62120	ATT		0.388	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		39	85	0	0	0	0.870114	0	39	85				
TRIM42	287015	broad.mit.edu	37	3	140406842	140406842	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:140406842G>A	ENST00000286349.3	+	3	1509	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	440	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.V440L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACTGGCCAGGTGGCATTCCT	0.517																																						ENST00000286349.3																			1	Substitution - Missense(1)	p.V440L(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1318-1320)Gtg>Atg		tripartite motif containing 42							69.0	59.0	63.0					3																	140406842		2203	4300	6503	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140406842G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1318G>A	3.37:g.140406842G>A	ENSP00000286349:p.Val440Met						p.V440M	NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN			3	1509	+			440			COS.		A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.1318G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768462	0.69878	.	.	ENSG00000155890	ENST00000286349	T	0.41065	1.01	5.48	5.48	0.80851	COS domain (1);	0.103846	0.42420	N	0.000714	T	0.52677	0.1749	L	0.29908	0.895	0.36320	D	0.858201	D	0.71674	0.998	D	0.81914	0.995	T	0.60052	-0.7338	10	0.59425	D	0.04	-25.7256	15.2061	0.73180	0.0:0.0:1.0:0.0	.	440	Q8IWZ5	TRI42_HUMAN	M	440	ENSP00000286349:V440M	ENSP00000286349:V440M	V	+	1	0	TRIM42	141889532	0.958000	0.32768	0.993000	0.49108	0.981000	0.71138	1.392000	0.34486	2.749000	0.94314	0.655000	0.94253	GTG		0.517	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		6	57	0	0	0	0.248553	0	6	57				
TCERG1	10915	broad.mit.edu	37	5	145834701	145834701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:145834701C>T	ENST00000296702.5	+	2	180	c.142C>T	c.(142-144)Cga>Tga	p.R48*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R48*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	48	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)	p.R48*(1)		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)			ACCTCTGATGCGACCTCCTCC	0.607																																						ENST00000296702.5																			1	Substitution - Nonsense(1)	p.R48*(1)	large_intestine(1)	breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(142-144)Cga>Tga		transcription elongation regulator 1							116.0	114.0	115.0					5																	145834701		2203	4300	6503	SO:0001587	stop_gained	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145834701C>T	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.142C>T	5.37:g.145834701C>T	ENSP00000296702:p.Arg48*					TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R48*	p.R48*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	180	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	48			Pro-rich.		Q2NKN2|Q59EA1	Nonsense_Mutation	SNP	ENST00000296702.5	37	c.142C>T	CCDS4282.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.951205	0.92660	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	.	.	.	5.4	1.4	0.22301	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0549	15.203	0.73157	0.4566:0.5434:0.0:0.0	.	.	.	.	X	48	.	ENSP00000296702:R48X	R	+	1	2	TCERG1	145814894	1.000000	0.71417	0.999000	0.59377	0.959000	0.62525	1.700000	0.37815	0.061000	0.16311	0.563000	0.77884	CGA		0.607	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006		4	225	0	0	0	0.184627	0	4	225				
DDX43	55510	broad.mit.edu	37	6	74111706	74111706	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:74111706G>C	ENST00000370336.4	+	4	719	c.561G>C	c.(559-561)aaG>aaC	p.K187N	DDX43_ENST00000539829.1_Missense_Mutation_p.K187N	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	187					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AAAAAACAAAGTGGGCAGGTC	0.358																																						ENST00000370336.4																			0				NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(559-561)aaG>aaC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43							131.0	132.0	131.0					6																	74111706		2203	4300	6503	SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74111706G>C		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	ENST00000370336.4:c.561G>C	6.37:g.74111706G>C	ENSP00000359361:p.Lys187Asn					DDX43_ENST00000539829.1_Missense_Mutation_p.K187N	p.K187N	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN			4	719	+			187					B4E0C8|Q6NXR1	Missense_Mutation	SNP	ENST00000370336.4	37	c.561G>C	CCDS4977.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265057	0.59431	.	.	ENSG00000080007	ENST00000370336;ENST00000539829	T;T	0.63744	2.25;-0.06	5.26	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.40694	0.1127	L	0.45352	1.415	0.43164	D	0.994957	P	0.45986	0.87	B	0.43194	0.411	T	0.37502	-0.9703	10	0.38643	T	0.18	.	10.1106	0.42561	0.0937:0.0:0.9063:0.0	.	187	Q9NXZ2	DDX43_HUMAN	N	187	ENSP00000359361:K187N;ENSP00000441636:K187N	ENSP00000359361:K187N	K	+	3	2	DDX43	74168427	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	1.705000	0.37867	1.357000	0.45904	-0.136000	0.14681	AAG		0.358	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		52	80	0	0	0	0.870114	0	52	80				
KLHL6	89857	broad.mit.edu	37	3	183273149	183273149	+	Splice_Site	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:183273149C>G	ENST00000341319.3	-	1	328	c.293G>C	c.(292-294)aGg>aCg	p.R98T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	98	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCATGCTGACCTGAAATAGTT	0.493																																						ENST00000341319.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.e1+1		kelch-like family member 6							79.0	70.0	73.0					3																	183273149		2203	4300	6503	SO:0001630	splice_region_variant	89857							g.chr3:183273149C>G	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.293+1G>C	3.37:g.183273149C>G							p.R98_splice	NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		1	328	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		98			BTB.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Splice_Site	SNP	ENST00000341319.3	37	c.293_splice	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892718	0.91889	.	.	ENSG00000172578	ENST00000341319	T	0.69685	-0.42	5.52	5.52	0.82312	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83894	0.5353	M	0.82517	2.595	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84572	0.0656	9	.	.	.	.	19.505	0.95111	0.0:1.0:0.0:0.0	.	98	Q8WZ60	KLHL6_HUMAN	T	98	ENSP00000341342:R98T	.	R	-	2	0	KLHL6	184755843	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.276000	0.72601	2.604000	0.88044	0.650000	0.86243	AGG		0.493	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446	Missense_Mutation	7	94	0	0	0	0.248553	0	7	94				
TTN	7273	broad.mit.edu	37	2	179408725	179408725	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:179408725C>T	ENST00000591111.1	-	296	91447	c.91223G>A	c.(91222-91224)aGc>aAc	p.S30408N	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29481N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23109N|TTN_ENST00000460472.2_Missense_Mutation_p.S22984N|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23176N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S32049N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30408	Ig-like 137.				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)			GCCCTGCTTGCTCCACGTTAT	0.493																																						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.(96145-96147)aGc>aAc		titin							162.0	154.0	156.0					2																	179408725		1984	4166	6150	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179408725C>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.91223G>A	2.37:g.179408725C>T	ENSP00000465570:p.Ser30408Asn					TTN_ENST00000359218.5_Missense_Mutation_p.S23109N|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S30408N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S23176N|TTN_ENST00000460472.2_Missense_Mutation_p.S22984N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29481N	p.S32049N	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)		346	96370	-			30408			Fibronectin type-III 132.		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.96146G>A		.	.	.	.	.	.	.	.	.	.	C	14.38	2.517128	0.44763	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.72	1.84	0.25277	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38639	0.1048	M	0.64260	1.97	0.34144	D	0.666753	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.0;0.0;0.003;0.001	T	0.42732	-0.9434	9	0.87932	D	0	.	8.872	0.35323	0.0:0.5268:0.346:0.1271	.	22984;23109;23176;30408	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	29481;22984;23176;23109;22981	ENSP00000343764:S29481N;ENSP00000434586:S22984N;ENSP00000340554:S23176N;ENSP00000352154:S23109N	ENSP00000340554:S23176N	S	-	2	0	TTN	179116971	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	1.392000	0.34486	0.056000	0.16144	-0.304000	0.09214	AGC		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	132	0	0	0	0.667858	0	27	132				
TRIM28	10155	broad.mit.edu	37	19	59059687	59059687	+	Silent	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:59059687C>G	ENST00000253024.5	+	8	1417	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	TRIM28_ENST00000341753.6_Silent_p.L294L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	376	Interaction with MAGEC2.|Leucine zipper alpha helical coiled-coil region.|RBCC domain.				convergent extension involved in axis elongation (GO:0060028)|DNA repair (GO:0006281)|embryonic placenta morphogenesis (GO:0060669)|epithelial to mesenchymal transition (GO:0001837)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of DNA repair (GO:0045739)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|Krueppel-associated box domain binding (GO:0035851)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCGGGCCCTCAAGATGATTG	0.542																																						ENST00000253024.5																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19						c.(1126-1128)ctC>ctG		tripartite motif containing 28							71.0	71.0	71.0					19																	59059687		2203	4300	6503	SO:0001819	synonymous_variant	10155				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding	g.chr19:59059687C>G		CCDS12985.1	19q13.4	2014-06-13	2011-01-25			ENSG00000130726		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	16384	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 157"""	601742	"""tripartite motif-containing 28"""			11331580, 11226167	Standard	NM_005762		Approved	TIF1B, KAP1, TF1B, RNF96, PPP1R157	uc002qtg.1	Q13263		ENST00000253024.5:c.1128C>G	19.37:g.59059687C>G						TRIM28_ENST00000341753.6_Silent_p.L294L	p.L376L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	8	1417	+		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	376			Leucine zipper alpha helical coiled-coil region.|RBCC domain.		O00677|Q7Z632|Q93040|Q96IM1	Silent	SNP	ENST00000253024.5	37	c.1128C>G	CCDS12985.1																																																																																				0.542	TRIM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467074.1	NM_005762		3	88	0	0	0	0.184627	0	3	88				
SOCS5	9655	broad.mit.edu	37	2	46986141	46986141	+	Missense_Mutation	SNP	G	G	A	rs373780921		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:46986141G>A	ENST00000306503.5	+	2	644	c.472G>A	c.(472-474)Gta>Ata	p.V158I	SOCS5_ENST00000394861.2_Missense_Mutation_p.V158I	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	158					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCGCTACGGCGTAAGTTCTGT	0.458																																						ENST00000306503.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(472-474)Gta>Ata		suppressor of cytokine signaling 5		G	ILE/VAL,ILE/VAL	0,4402		0,0,2201	75.0	71.0	73.0		472,472	3.7	0.0	2		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SOCS5	NM_144949.2,NM_014011.4	29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	158/537,158/537	46986141	1,13001	2201	4300	6501	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46986141G>A	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.472G>A	2.37:g.46986141G>A	ENSP00000305133:p.Val158Ile					SOCS5_ENST00000394861.2_Missense_Mutation_p.V158I	p.V158I	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	644	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	158					Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.472G>A	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	3.937	-0.014928	0.07681	0.0	1.16E-4	ENSG00000171150	ENST00000306503;ENST00000394861	T;T	0.32023	1.47;1.47	5.55	3.74	0.42951	.	0.403945	0.26605	N	0.023449	T	0.17704	0.0425	N	0.14661	0.345	0.19575	N	0.999968	B	0.15719	0.014	B	0.09377	0.004	T	0.15867	-1.0422	10	0.30078	T	0.28	-6.1663	11.2297	0.48905	0.0695:0.1278:0.8027:0.0	.	158	O75159	SOCS5_HUMAN	I	158	ENSP00000305133:V158I;ENSP00000378330:V158I	ENSP00000305133:V158I	V	+	1	0	SOCS5	46839645	1.000000	0.71417	0.004000	0.12327	0.064000	0.16182	4.916000	0.63362	0.881000	0.35993	0.655000	0.94253	GTA		0.458	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2			3	95	0	0	0	0.115264	0	3	95				
ZNF208	7757	broad.mit.edu	37	19	22155036	22155036	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:22155036T>C	ENST00000397126.4	-	4	2948	c.2800A>G	c.(2800-2802)Aaa>Gaa	p.K934E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCTTATGTTTACTAAAGACT	0.378																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(2800-2802)Aaa>Gaa		zinc finger protein 208							48.0	51.0	50.0					19																	22155036		2033	4198	6231	SO:0001583	missense	7757							g.chr19:22155036T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2800A>G	19.37:g.22155036T>C	ENSP00000380315:p.Lys934Glu					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.K934E	NM_007153.3	NP_009084.2					4	2948	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.2800A>G	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.690528	0.00738	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.06687	3.27	2.9	-5.81	0.02340	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02533	0.0077	.	.	.	0.09310	N	1	B	0.32543	0.375	B	0.37650	0.255	T	0.35425	-0.9789	8	0.02654	T	1	.	0.7525	0.00992	0.1651:0.2927:0.2464:0.2958	.	834	O43345	ZN208_HUMAN	E	934;834	ENSP00000380315:K934E	ENSP00000380315:K934E	K	-	1	0	ZNF208	21946876	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.493000	0.00972	-1.257000	0.02475	0.240000	0.17902	AAA		0.378	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		6	38	0	0	0	0.217242	0	6	38				
OR6S1	341799	broad.mit.edu	37	14	21109305	21109305	+	Silent	SNP	G	G	A	rs376650163	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:21109305G>A	ENST00000320704.3	-	1	545	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	182						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)		GGCCACTGTCGCAGAAGAAGT	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		21782	0.001		0.001	False		,,,				2504	0.0					ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(544-546)tgC>tgT		olfactory receptor, family 6, subfamily S, member 1		G		0,4406		0,0,2203	64.0	62.0	62.0		546	0.8	1.0	14		62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	OR6S1	NM_001001968.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		182/332	21109305	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109305G>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.546C>T	14.37:g.21109305G>A							p.C182C	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	545	-	all_cancers(95;0.00304)		182					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.546C>T	CCDS32038.1																																																																																				0.587	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			15	27	0	0	0	0.500413	0	15	27				
CDH24	64403	broad.mit.edu	37	14	23517622	23517622	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:23517622T>C	ENST00000267383.5	-	12	2119	c.2027A>G	c.(2026-2028)gAg>gGg	p.E676G	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000487137.2_Missense_Mutation_p.E638G|CDH24_ENST00000397359.3_Missense_Mutation_p.E676G|CDH24_ENST00000554034.1_Missense_Mutation_p.E638G			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	676					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)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCGGACGTCCTCCTCCTCCAG	0.667																																						ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(2026-2028)gAg>gGg		cadherin 24, type 2							77.0	80.0	79.0					14																	23517622		2203	4300	6503	SO:0001583	missense	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23517622T>C	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.2027A>G	14.37:g.23517622T>C	ENSP00000267383:p.Glu676Gly					CDH24_ENST00000487137.2_Missense_Mutation_p.E638G|CDH24_ENST00000554034.1_Missense_Mutation_p.E638G|CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000267383.5_Missense_Mutation_p.E676G	p.E676G	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	13	2286	-	all_cancers(95;3.3e-05)		676					D3DS44|Q86UP1|Q9NT84	Missense_Mutation	SNP	ENST00000267383.5	37	c.2027A>G	CCDS9585.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582449	0.65992	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000422751;ENST00000554034;ENST00000267383	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	3.84	3.84	0.44239	Cadherin, cytoplasmic domain (1);	0.135826	0.48286	D	0.000191	T	0.80082	0.4558	M	0.75615	2.305	0.40257	D	0.978131	D;B	0.56035	0.974;0.439	P;B	0.48189	0.57;0.172	D	0.83766	0.0217	10	0.87932	D	0	.	11.7723	0.51967	0.0:0.0:0.0:1.0	.	638;676	Q86UP0-2;Q86UP0	.;CAD24_HUMAN	G	676;638;171;638;676	ENSP00000380517:E676G;ENSP00000434821:E638G;ENSP00000452493:E638G;ENSP00000267383:E676G	ENSP00000267383:E676G	E	-	2	0	CDH24	22587462	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.913000	0.63341	1.621000	0.50320	0.482000	0.46254	GAG		0.667	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		4	167	0	0	0	0.150653	0	4	167				
PPP3CA	5530	broad.mit.edu	37	4	102001731	102001731	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr4:102001731T>A	ENST00000394854.3	-	8	1596	c.913A>T	c.(913-915)Att>Ttt	p.I305F	PPP3CA_ENST00000323055.6_Missense_Mutation_p.I305F|PPP3CA_ENST00000507176.1_Missense_Mutation_p.I207F|PPP3CA_ENST00000394853.4_Missense_Mutation_p.I305F|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000523694.2_Missense_Mutation_p.I238F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	305					calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCTGAAAAAATTGTAATTAGA	0.313																																						ENST00000394854.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(913-915)Att>Ttt		protein phosphatase 3, catalytic subunit, alpha isozyme							75.0	75.0	75.0					4																	102001731		2202	4298	6500	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:102001731T>A		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.913A>T	4.37:g.102001731T>A	ENSP00000378323:p.Ile305Phe					PPP3CA_ENST00000323055.6_Missense_Mutation_p.I305F|PPP3CA_ENST00000523694.2_Missense_Mutation_p.I238F|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000507176.1_Missense_Mutation_p.I207F|PPP3CA_ENST00000394853.4_Missense_Mutation_p.I305F	p.I305F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	8	1596	-			305					A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.913A>T	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632620	0.87660	.	.	ENSG00000138814	ENST00000394854;ENST00000323055;ENST00000394853;ENST00000507176;ENST00000523694	T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99	5.39	5.39	0.77823	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.240511	0.38663	N	0.001615	T	0.43590	0.1254	M	0.93978	3.48	0.80722	D	1	D;D;D;D;D	0.71674	0.994;0.997;0.998;0.998;0.997	P;D;D;P;P	0.70016	0.903;0.967;0.955;0.888;0.879	T	0.58719	-0.7587	10	0.87932	D	0	-9.8314	15.4421	0.75190	0.0:0.0:0.0:1.0	.	305;305;305;207;238	Q08209;A8W6Z7;Q08209-2;E7ETC2;A1A441	PP2BA_HUMAN;.;.;.;.	F	305;305;305;207;238	ENSP00000378323:I305F;ENSP00000320580:I305F;ENSP00000378322:I305F;ENSP00000422990:I207F;ENSP00000429350:I238F	ENSP00000320580:I305F	I	-	1	0	PPP3CA	102220754	1.000000	0.71417	0.995000	0.50966	0.852000	0.48524	7.751000	0.85126	2.054000	0.61138	0.533000	0.62120	ATT		0.313	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2	NM_000944		23	35	0	0	0	0.706142	0	23	35				
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.Y832Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.587										HNSCC(3;0.000094)																												ENST00000296682.3																			1	Substitution - coding silent(1)	p.Y832Y(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(2494-2496)taT>taC		PR domain containing 9							48.0	60.0	56.0					5																	23527693		2166	4285	6451	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527693T>C	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2496T>C	5.37:g.23527693T>C		HNSCC(3;0.000094)					p.Y832Y	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	2678	+			832					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.2496T>C	CCDS43307.1																																																																																				0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		5	170	0	0	0	0.217242	0	5	170				
CYTIP	9595	broad.mit.edu	37	2	158272196	158272196	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:158272196C>T	ENST00000264192.3	-	8	1194	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	CYTIP_ENST00000540637.1_Missense_Mutation_p.R252H	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	358					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CCGTCAAAAGCGACTTTCTTC	0.468																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(1072-1074)cGc>cAc		cytohesin 1 interacting protein							70.0	66.0	68.0					2																	158272196		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272196C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.1073G>A	2.37:g.158272196C>T	ENSP00000264192:p.Arg358His					CYTIP_ENST00000540637.1_Missense_Mutation_p.R252H	p.R358H	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			8	1194	-			358					B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.1073G>A	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276450	0.80580	.	.	ENSG00000115165	ENST00000264192;ENST00000540637	T;T	0.48201	2.09;0.82	6.06	6.06	0.98353	.	0.252494	0.39687	N	0.001300	T	0.67258	0.2874	M	0.68317	2.08	0.34869	D	0.743457	D	0.89917	1.0	D	0.76071	0.987	T	0.75187	-0.3406	10	0.66056	D	0.02	-17.0131	15.6756	0.77316	0.0:0.8635:0.1364:0.0	.	358	O60759	CYTIP_HUMAN	H	358;252	ENSP00000264192:R358H;ENSP00000440801:R252H	ENSP00000264192:R358H	R	-	2	0	CYTIP	157980442	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.708000	0.47152	2.882000	0.98803	0.655000	0.94253	CGC		0.468	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		10	47	0	0	0	0.361761	0	10	47				
RPTOR	57521	broad.mit.edu	37	17	78857260	78857260	+	Silent	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:78857260C>T	ENST00000306801.3	+	15	1988	c.1626C>T	c.(1624-1626)atC>atT	p.I542I	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	542					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						TCGCCGTGATCGTCAACAGCT	0.587																																						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.(1624-1626)atC>atT		regulatory associated protein of MTOR, complex 1							92.0	74.0	80.0					17																	78857260		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.chr17:78857260C>T		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.1626C>T	17.37:g.78857260C>T						RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Intron	p.I542I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN			15	1988	+			542					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.1626C>T	CCDS11773.1																																																																																				0.587	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761		22	52	0	0	0	0.667858	0	22	52				
NALCN	259232	broad.mit.edu	37	13	101833451	101833451	+	Intron	SNP	G	G	A	rs369043342		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:101833451G>A	ENST00000251127.6	-	15	1846				NALCN_ENST00000376196.3_Nonsense_Mutation_p.R668*|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective						calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTACTTATCGAAGATTGTGA	0.473																																						ENST00000376196.3																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(2002-2004)Cga>Tga		sodium leak channel, non-selective		G		0,1752		0,0,876	228.0	212.0	217.0			0.4	0.0	13		217	1,3981		0,1,1990	no	intron	NALCN	NM_052867.2		0,1,2866	AA,AG,GG		0.0251,0.0,0.0174			101833451	1,5733	876	1991	2867	SO:0001627	intron_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101833451G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1765-4726C>T	13.37:g.101833451G>A						NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000251127.6_Intron	p.R668*			Q8IZF0	NALCN_HUMAN			15	2161	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		0					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Nonsense_Mutation	SNP	ENST00000251127.6	37	c.2002C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750365	0.69533	0.0	2.51E-4	ENSG00000102452	ENST00000376196	.	.	.	2.8	0.381	0.16228	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.487	0.07624	0.218:0.0:0.2576:0.5243	.	.	.	.	X	668	.	ENSP00000365367:R668X	R	-	1	2	NALCN	100631452	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.121000	0.15667	0.077000	0.16863	-1.535000	0.00915	CGA		0.473	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		10	177	0	0	0	0.435327	0	10	177				
FAT2	2196	broad.mit.edu	37	5	150891839	150891839	+	Missense_Mutation	SNP	G	G	A	rs140427755		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:150891839G>A	ENST00000261800.5	-	20	11804	c.11792C>T	c.(11791-11793)aCg>aTg	p.T3931M	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3931	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTGCCACCGTCTTGCCAGG	0.577																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(11791-11793)aCg>aTg		FAT atypical cadherin 2		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	67.0	63.0	64.0		11792	-1.7	0.0	5	dbSNP_134	64	0,8600		0,0,4300	no	missense	FAT2	NM_001447.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	3931/4350	150891839	1,13005	2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150891839G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.11792C>T	5.37:g.150891839G>A	ENSP00000261800:p.Thr3931Met					CTC-251D13.1_ENST00000606930.1_RNA	p.T3931M	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		20	11804	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3931			Laminin G-like.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.11792C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	6.034	0.374581	0.11409	2.27E-4	0.0	ENSG00000086570	ENST00000261800	T	0.71817	-0.6	5.16	-1.71	0.08133	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.796847	0.10985	N	0.612300	T	0.37839	0.1018	N	0.08118	0	0.09310	N	1	P;D	0.56287	0.876;0.975	B;B	0.36989	0.13;0.238	T	0.39187	-0.9626	10	0.40728	T	0.16	.	1.5384	0.02550	0.1142:0.2189:0.281:0.3859	.	3931;1036	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	M	3931	ENSP00000261800:T3931M	ENSP00000261800:T3931M	T	-	2	0	FAT2	150872032	0.008000	0.16893	0.000000	0.03702	0.032000	0.12392	0.268000	0.18571	-0.458000	0.07023	-0.732000	0.03574	ACG		0.577	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		7	101	0	0	0	0.248553	0	7	101				
ZNF292	23036	broad.mit.edu	37	6	87969690	87969690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:87969690C>T	ENST00000369577.3	+	8	6386	c.6343C>T	c.(6343-6345)Cga>Tga	p.R2115*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R2110*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2115						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)	p.R2115*(1)|p.R1970*(1)		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)		CAGACCTTATCGATGTGTTCA	0.418																																						ENST00000369577.3																			2	Substitution - Nonsense(2)	p.R2115*(1)|p.R1970*(1)	large_intestine(2)	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.(6343-6345)Cga>Tga		zinc finger protein 292							87.0	89.0	89.0					6																	87969690		1907	4104	6011	SO:0001587	stop_gained	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969690C>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.6343C>T	6.37:g.87969690C>T	ENSP00000358590:p.Arg2115*					ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R2110*	p.R2115*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6386	+		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)	2115					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Nonsense_Mutation	SNP	ENST00000369577.3	37	c.6343C>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	C	45	11.675554	0.99590	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	.	.	.	5.77	3.79	0.43588	.	0.173238	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8656	0.46853	0.1948:0.7315:0.0:0.0736	.	.	.	.	X	2115;2110	.	ENSP00000342847:R2110X	R	+	1	2	ZNF292	88026409	0.992000	0.36948	1.000000	0.80357	0.982000	0.71751	2.407000	0.44565	1.422000	0.47177	0.655000	0.94253	CGA		0.418	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		27	62	0	0	0	0.760397	0	27	62				
MAST1	22983	broad.mit.edu	37	19	12978320	12978320	+	Silent	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:12978320C>T	ENST00000251472.4	+	19	2211	c.2172C>T	c.(2170-2172)caC>caT	p.H724H		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGTCGCAGCACGAGCCCAAGA	0.652																																						ENST00000251472.4																			0				NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						c.(2170-2172)caC>caT		microtubule associated serine/threonine kinase 1							53.0	61.0	59.0					19																	12978320		2202	4300	6502	SO:0001819	synonymous_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12978320C>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.2172C>T	19.37:g.12978320C>T							p.H724H	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN			19	2211	+			724						Silent	SNP	ENST00000251472.4	37	c.2172C>T	CCDS32921.1																																																																																				0.652	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		5	126	0	0	0	0.217242	0	5	126				
SYNPO	11346	broad.mit.edu	37	5	150029504	150029504	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:150029504G>A	ENST00000394243.1	+	3	2773	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	SYNPO_ENST00000519664.1_Missense_Mutation_p.R556H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R556H|SYNPO_ENST00000522122.1_Missense_Mutation_p.R800H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	800	Pro-rich.				positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTCCTGCGCCCAGAGCCC	0.667																																						ENST00000394243.1																			0				NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18						c.(2398-2400)cGc>cAc		synaptopodin							62.0	79.0	73.0					5																	150029504		2203	4300	6503	SO:0001583	missense	11346				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding	g.chr5:150029504G>A	AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.2399G>A	5.37:g.150029504G>A	ENSP00000377789:p.Arg800His					SYNPO_ENST00000522122.1_Missense_Mutation_p.R800H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R556H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R556H	p.R800H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	2773	+		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	800			Pro-rich.		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	ENST00000394243.1	37	c.2399G>A	CCDS54937.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083373	0.55861	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.24350	1.86;1.86;1.86	5.06	4.19	0.49359	.	0.000000	0.50627	D	0.000106	T	0.34164	0.0888	L	0.36672	1.1	0.34198	D	0.672871	B;D	0.89917	0.067;1.0	B;D	0.67725	0.011;0.953	T	0.47058	-0.9146	10	0.51188	T	0.08	-17.4588	6.874	0.24137	0.3087:0.0:0.6913:0.0	.	556;800	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	H	800;800;556;556	ENSP00000377789:R800H;ENSP00000428378:R800H;ENSP00000429268:R556H	ENSP00000302139:R556H	R	+	2	0	SYNPO	150009697	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	1.992000	0.40737	1.128000	0.42052	0.462000	0.41574	CGC		0.667	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1	NM_007286		32	160	0	0	0	0.804634	0	32	160				
NAPG	8774	broad.mit.edu	37	18	10540386	10540386	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:10540386C>G	ENST00000322897.6	+	8	565	c.496C>G	c.(496-498)Cga>Gga	p.R166G	NAPG_ENST00000542979.1_Missense_Mutation_p.R84G	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	166					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						ACTACTAGTACGAGGACGTAG	0.373																																						ENST00000322897.6																			0				large_intestine(2)|lung(2)	4						c.(496-498)Cga>Gga		N-ethylmaleimide-sensitive factor attachment protein, gamma							88.0	83.0	85.0					18																	10540386		1847	4091	5938	SO:0001583	missense	8774				cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding	g.chr18:10540386C>G	U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.496C>G	18.37:g.10540386C>G	ENSP00000324628:p.Arg166Gly					NAPG_ENST00000542979.1_Missense_Mutation_p.R84G	p.R166G	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN			8	565	+			166					B4DFC9|Q9BUV1	Missense_Mutation	SNP	ENST00000322897.6	37	c.496C>G	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632661	0.67015	.	.	ENSG00000134265	ENST00000322897;ENST00000542979	T;T	0.29917	1.55;1.55	5.96	5.04	0.67666	Tetratricopeptide-like helical (1);	0.107909	0.64402	D	0.000009	T	0.48572	0.1507	M	0.78637	2.42	0.58432	D	0.999995	D	0.63880	0.993	P	0.53490	0.727	T	0.53180	-0.8475	10	0.87932	D	0	-4.0964	14.5618	0.68144	0.2594:0.7406:0.0:0.0	.	166	Q99747	SNAG_HUMAN	G	166;84	ENSP00000324628:R166G;ENSP00000442849:R84G	ENSP00000324628:R166G	R	+	1	2	NAPG	10530386	0.952000	0.32445	0.947000	0.38551	0.925000	0.55904	2.132000	0.42083	2.823000	0.97156	0.650000	0.86243	CGA		0.373	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	NM_003826		17	43	0	0	0	0.575678	0	17	43				
LIPG	9388	broad.mit.edu	37	18	47110059	47110059	+	Missense_Mutation	SNP	C	C	T	rs536799767		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:47110059C>T	ENST00000261292.4	+	8	1569	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	LIPG_ENST00000427224.2_Missense_Mutation_p.R357C	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	431	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				cell proliferation (GO:0008283)|cholesterol homeostasis (GO:0042632)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|phospholipid catabolic process (GO:0009395)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|regulation of lipoprotein metabolic process (GO:0050746)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)	extracellular space (GO:0005615)	heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phosphatidylcholine 1-acylhydrolase activity (GO:0008970)|phospholipase activity (GO:0004620)	p.R431C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GAAGGAGTTTCGCAGCTACCT	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		19702	0.001		0.0	False		,,,				2504	0.0				Pancreas(126;280 1778 12814 26243 34948)	ENST00000261292.4																			1	Substitution - Missense(1)	p.R431C(1)	autonomic_ganglia(1)	autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						c.(1291-1293)Cgc>Tgc		lipase, endothelial							73.0	65.0	68.0					18																	47110059		2203	4300	6503	SO:0001583	missense	9388				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	g.chr18:47110059C>T	AF118767	CCDS11938.1	18q21.1	2006-04-22				ENSG00000101670			6623	protein-coding gene	gene with protein product		603684				10318835, 10192396	Standard	XM_005258390		Approved	EDL	uc002ldv.3	Q9Y5X9		ENST00000261292.4:c.1291C>T	18.37:g.47110059C>T	ENSP00000261292:p.Arg431Cys					LIPG_ENST00000427224.2_Missense_Mutation_p.R357C	p.R431C	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN			8	1569	+			431			PLAT.		B0LPG6|Q6P9C8|Q6UW82	Missense_Mutation	SNP	ENST00000261292.4	37	c.1291C>T	CCDS11938.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952882	0.73787	.	.	ENSG00000101670	ENST00000261292;ENST00000427224	D;D	0.86865	-2.18;-1.68	5.38	5.38	0.77491	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.214441	0.47852	D	0.000208	D	0.91801	0.7406	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.939	D	0.92264	0.5819	10	0.72032	D	0.01	-20.9923	13.9451	0.64080	0.1897:0.8103:0.0:0.0	.	357;431	B4DTR8;Q9Y5X9	.;LIPE_HUMAN	C	431;357	ENSP00000261292:R431C;ENSP00000387978:R357C	ENSP00000261292:R431C	R	+	1	0	LIPG	45364057	0.003000	0.15002	0.996000	0.52242	0.961000	0.63080	1.340000	0.33896	2.530000	0.85305	0.561000	0.74099	CGC		0.592	LIPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447546.1	NM_006033		9	45	0	0	0	0.361761	0	9	45				
SLITRK4	139065	broad.mit.edu	37	X	142718314	142718314	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:142718314C>G	ENST00000381779.4	-	2	836	c.611G>C	c.(610-612)cGt>cCt	p.R204P	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204P|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204P	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	204						integral component of membrane (GO:0016021)		p.R204H(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACGACACGGCCAATGTG	0.428																																						ENST00000381779.4																			1	Substitution - Missense(1)	p.R204H(1)	large_intestine(1)	autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60						c.(610-612)cGt>cCt		SLIT and NTRK-like family, member 4							86.0	82.0	84.0					X																	142718314		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142718314C>G	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.611G>C	X.37:g.142718314C>G	ENSP00000371198:p.Arg204Pro					SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204P|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204P	p.R204P	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN			2	836	-	Acute lymphoblastic leukemia(192;6.56e-05)		204					Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.611G>C	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490556	0.44249	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52983	0.64;0.64;0.64	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.63954	0.2555	L	0.57130	1.785	0.80722	D	1	D	0.63880	0.993	D	0.63033	0.91	T	0.63377	-0.6651	10	0.48119	T	0.1	-6.3467	17.313	0.87214	0.0:1.0:0.0:0.0	.	204	Q8IW52	SLIK4_HUMAN	P	204	ENSP00000371198:R204P;ENSP00000349400:R204P;ENSP00000336627:R204P	ENSP00000336627:R204P	R	-	2	0	SLITRK4	142545980	1.000000	0.71417	0.840000	0.33206	0.462000	0.32619	7.818000	0.86416	2.412000	0.81896	0.597000	0.82753	CGT		0.428	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		34	24	0	0	0	0.827153	0	34	24				
SLC2A5	6518	broad.mit.edu	37	1	9099650	9099650	+	Silent	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:9099650G>A	ENST00000377424.4	-	8	1136	c.957C>T	c.(955-957)gcC>gcT	p.A319A	SLC2A5_ENST00000535586.1_Silent_p.A204A|SLC2A5_ENST00000536305.1_Silent_p.A260A	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	319					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGGTGCCGGCCGTCACGT	0.697																																						ENST00000377424.4																			0				endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36						c.(955-957)gcC>gcT		solute carrier family 2 (facilitated glucose/fructose transporter), member 5							19.0	22.0	21.0					1																	9099650		2183	4274	6457	SO:0001819	synonymous_variant	6518				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	g.chr1:9099650G>A	BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.957C>T	1.37:g.9099650G>A						SLC2A5_ENST00000536305.1_Silent_p.A260A|SLC2A5_ENST00000535586.1_Silent_p.A204A	p.A319A	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	8	1136	-	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	319					Q14770|Q5T977|Q8IVB3	Silent	SNP	ENST00000377424.4	37	c.957C>T	CCDS99.1																																																																																				0.697	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004932.1	NM_003039		3	4	0	0	0	0.184627	0	3	4				
ESM1	11082	broad.mit.edu	37	5	54281325	54281325	+	Silent	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:54281325C>G	ENST00000381405.4	-	1	166	c.21G>C	c.(19-21)ctG>ctC	p.L7L	ESM1_ENST00000381403.4_Silent_p.L7L|ESM1_ENST00000598310.1_Intron	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	7					angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GGAGCGTGGTCAGCAGCAAGA	0.597																																						ENST00000381405.4																			0				breast(1)|kidney(1)|large_intestine(4)|lung(4)	10						c.(19-21)ctG>ctC		endothelial cell-specific molecule 1							37.0	36.0	36.0					5																	54281325		2203	4300	6503	SO:0001819	synonymous_variant	11082				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding	g.chr5:54281325C>G	X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.21G>C	5.37:g.54281325C>G						ESM1_ENST00000381403.4_Silent_p.L7L|ESM1_ENST00000598310.1_Intron	p.L7L	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	Lung(15;0.23)		1	166	-		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	7					B2R4G3|Q15330|Q3V4E3|Q96ES3	Silent	SNP	ENST00000381405.4	37	c.21G>C	CCDS3963.1																																																																																				0.597	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214099.2	NM_007036		3	65	0	0	0	0.150653	0	3	65				
ATXN3	4287	broad.mit.edu	37	14	92548749	92548749	+	Nonsense_Mutation	SNP	C	C	A	rs377574592		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:92548749C>A	ENST00000532032.1	-	8	679	c.670G>T	c.(670-672)Gaa>Taa	p.E224*	ATXN3_ENST00000429774.2_Nonsense_Mutation_p.E209*|ATXN3_ENST00000340660.6_Nonsense_Mutation_p.E169*|ATXN3_ENST00000502250.1_Nonsense_Mutation_p.E45*|ATXN3_ENST00000503767.1_Nonsense_Mutation_p.E209*|ATXN3_ENST00000545170.1_Nonsense_Mutation_p.E224*|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.E224*			P54252	ATX3_HUMAN	ataxin 3	224					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TCCTCATCTTCGTCTAACATT	0.443																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	ENST00000545170.1																			0				endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12						c.(670-672)Gaa>Taa		ataxin 3							164.0	141.0	149.0					14																	92548749		2203	4300	6503	SO:0001587	stop_gained	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92548749C>A	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.670G>T	14.37:g.92548749C>A	ENSP00000437157:p.Glu224*					ATXN3_ENST00000503767.1_Nonsense_Mutation_p.E209*|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.E224*|ATXN3_ENST00000502250.1_Nonsense_Mutation_p.E45*|ATXN3_ENST00000340660.6_Nonsense_Mutation_p.E169*|ATXN3_ENST00000429774.2_Nonsense_Mutation_p.E209*|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000532032.1_Nonsense_Mutation_p.E224*	p.E224*	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	8	738	-		all_cancers(154;0.0768)	224					A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Nonsense_Mutation	SNP	ENST00000532032.1	37	c.670G>T		.	.	.	.	.	.	.	.	.	.	C	25.4	4.633485	0.87660	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000502250;ENST00000503767;ENST00000340660;ENST00000532032;ENST00000555381;ENST00000557311;ENST00000554592;ENST00000554672;ENST00000553491;ENST00000556220;ENST00000506466	.	.	.	5.29	5.29	0.74685	.	0.101649	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	18.9846	0.92765	0.0:1.0:0.0:0.0	.	.	.	.	X	224;224;224;224;224;224;224;209;223;224;45;209;169;224;154;45;223;126;173;118;158	.	ENSP00000339110:E169X	E	-	1	0	ATXN3	91618502	1.000000	0.71417	0.988000	0.46212	0.759000	0.43091	7.322000	0.79097	2.490000	0.84030	0.485000	0.47835	GAA		0.443	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993		34	79	1	0	2.75727e-19	0.804634	3.01081e-19	34	79				
RIF1	55183	broad.mit.edu	37	2	152311552	152311552	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:152311552A>G	ENST00000243326.5	+	21	2971	c.2488A>G	c.(2488-2490)Att>Gtt	p.I830V	RIF1_ENST00000428287.2_Missense_Mutation_p.I830V|RIF1_ENST00000444746.2_Missense_Mutation_p.I830V|RIF1_ENST00000430328.2_Missense_Mutation_p.I830V|RIF1_ENST00000453091.2_Missense_Mutation_p.I830V			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCTCTTCACTATTGGCAACTC	0.383																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(2488-2490)Att>Gtt		RAP1 interacting factor homolog (yeast)							149.0	149.0	149.0					2																	152311552		2203	4300	6503	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152311552A>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2488A>G	2.37:g.152311552A>G	ENSP00000243326:p.Ile830Val					RIF1_ENST00000453091.2_Missense_Mutation_p.I830V|RIF1_ENST00000428287.2_Missense_Mutation_p.I830V|RIF1_ENST00000430328.2_Missense_Mutation_p.I830V|RIF1_ENST00000444746.2_Missense_Mutation_p.I830V	p.I830V			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	21	2971	+			830					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2488A>G	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.317|6.317	0.426629|0.426629	0.11987|0.11987	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	T;T;T;T;T|.	0.68903|.	-0.36;-0.36;-0.36;-0.36;-0.36|.	5.55|5.55	-2.28|-2.28	0.06826|0.06826	.|.	0.575385|.	0.18338|.	N|.	0.144297|.	T|T	0.29945|0.29945	0.0749|0.0749	N|N	0.12569|0.12569	0.235|0.235	0.33049|0.33049	D|D	0.53246|0.53246	B;B|.	0.11235|.	0.004;0.001|.	B;B|.	0.10450|.	0.002;0.005|.	T|T	0.39742|0.39742	-0.9599|-0.9599	10|5	0.18276|.	T|.	0.48|.	-4.6537|-4.6537	12.6802|12.6802	0.56918|0.56918	0.5628:0.0:0.4372:0.0|0.5628:0.0:0.4372:0.0	.|.	830;830|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	V|C	830|821	ENSP00000390181:I830V;ENSP00000414615:I830V;ENSP00000415691:I830V;ENSP00000243326:I830V;ENSP00000416123:I830V|.	ENSP00000243326:I830V|.	I|Y	+|+	1|2	0|0	RIF1|RIF1	152019798|152019798	0.000000|0.000000	0.05858|0.05858	0.214000|0.214000	0.23707|0.23707	0.986000|0.986000	0.74619|0.74619	-0.387000|-0.387000	0.07361|0.07361	-0.387000|-0.387000	0.07809|0.07809	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.383	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			3	137	0	0	0	0.115264	0	3	137				
ORMDL1	94101	broad.mit.edu	37	2	190640394	190640394	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:190640394G>T	ENST00000325795.3	-	2	1009	c.223C>A	c.(223-225)Cct>Act	p.P75T	ORMDL1_ENST00000392349.4_Missense_Mutation_p.P75T|ORMDL1_ENST00000409519.1_Missense_Mutation_p.P75T|ORMDL1_ENST00000392350.3_Missense_Mutation_p.P75T|ORMDL1_ENST00000496543.1_5'Flank			Q9P0S3	ORML1_HUMAN	ORMDL sphingolipid biosynthesis regulator 1	75					ceramide metabolic process (GO:0006672)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			CCCTGGTCAGGAGTTTCGAAA	0.378																																						ENST00000325795.3																			0				breast(1)|urinary_tract(1)	2						c.(223-225)Cct>Act		ORM1-like 1 (S. cerevisiae)							117.0	115.0	116.0					2																	190640394		2203	4300	6503	SO:0001583	missense	94101				ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		g.chr2:190640394G>T		CCDS2301.1	2q32	2014-06-16	2014-06-16		ENSG00000128699	ENSG00000128699			16036	protein-coding gene	gene with protein product		610073	"""ORM1 (S. cerevisiae)-like 1"", ""ORM1-like 1 (S. cerevisiae)"""			12093374, 23066021	Standard	NM_016467		Approved		uc002ure.4	Q9P0S3	OTTHUMG00000132661	ENST00000325795.3:c.223C>A	2.37:g.190640394G>T	ENSP00000326869:p.Pro75Thr					ORMDL1_ENST00000409519.1_Missense_Mutation_p.P75T|ORMDL1_ENST00000392350.3_Missense_Mutation_p.P75T|ORMDL1_ENST00000392349.4_Missense_Mutation_p.P75T	p.P75T			Q9P0S3	ORML1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)		2	1009	-			75					B2R8W3|D3DPH9	Missense_Mutation	SNP	ENST00000325795.3	37	c.223C>A	CCDS2301.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.636558	0.47049	.	.	ENSG00000128699	ENST00000392350;ENST00000325795;ENST00000392349;ENST00000409519;ENST00000442547;ENST00000458355	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.65076	-0.6256	9	0.13470	T	0.59	-14.6347	18.5564	0.91086	0.0:0.0:1.0:0.0	.	75	Q9P0S3	ORML1_HUMAN	T	75	.	ENSP00000326869:P75T	P	-	1	0	ORMDL1	190348639	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.556000	0.98127	2.605000	0.88082	0.655000	0.94253	CCT		0.378	ORMDL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335275.1	NM_016467		21	51	1	0	2.79863e-10	0.681144	2.9873e-10	21	51				
SIAE	54414	broad.mit.edu	37	11	124539286	124539286	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:124539286T>G	ENST00000263593.3	-	2	371	c.199A>C	c.(199-201)Acc>Ccc	p.T67P	SIAE_ENST00000525730.1_5'Flank|SIAE_ENST00000545756.1_Missense_Mutation_p.T32P			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	67					carbohydrate metabolic process (GO:0005975)|regulation of immune system process (GO:0002682)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	sialate O-acetylesterase activity (GO:0001681)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TTCATGATGGTTTCCTGACCT	0.522											OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263593.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15						c.(199-201)Acc>Ccc		sialic acid acetylesterase							231.0	183.0	199.0					11																	124539286		2201	4299	6500	SO:0001583	missense	54414					extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity	g.chr11:124539286T>G	AF300796	CCDS8449.1, CCDS55795.1	11q24	2005-12-15	2005-12-15	2005-12-15		ENSG00000110013			18187	protein-coding gene	gene with protein product	"""sialic acid-specific acetylesterase II"""	610079	"""Ysg2 homolog (mouse)"""	YSG2		10464298	Standard	NM_001199922		Approved	CSE-C, MGC87009, LSE	uc001qan.3	Q9HAT2		ENST00000263593.3:c.199A>C	11.37:g.124539286T>G	ENSP00000263593:p.Thr67Pro		OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1535	SIAE_ENST00000545756.1_Missense_Mutation_p.T32P	p.T67P			Q9HAT2	SIAE_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)	2	371	-	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	67					B3KPB0|Q8IUT9|Q9HAU7|Q9NT71	Missense_Mutation	SNP	ENST00000263593.3	37	c.199A>C	CCDS8449.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725668	0.30593	.	.	ENSG00000110013	ENST00000263593;ENST00000545756	D;D	0.85013	-1.93;-1.91	5.4	-8.07	0.01098	.	0.726558	0.13161	N	0.409048	T	0.72187	0.3429	L	0.46741	1.465	0.22571	N	0.998978	B;B	0.19583	0.007;0.037	B;B	0.14578	0.01;0.011	T	0.54642	-0.8263	10	0.48119	T	0.1	-3.4248	4.7723	0.13162	0.0937:0.4298:0.1912:0.2853	.	32;67	Q9HAT2-2;Q9HAT2	.;SIAE_HUMAN	P	67;32	ENSP00000263593:T67P;ENSP00000437877:T32P	ENSP00000263593:T67P	T	-	1	0	SIAE	124044496	0.000000	0.05858	0.000000	0.03702	0.951000	0.60555	-0.625000	0.05534	-1.950000	0.01030	0.533000	0.62120	ACC		0.522	SIAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387070.1	NM_170601		28	64	0	0	0	0.788014	0	28	64				
MORC2	22880	broad.mit.edu	37	22	31346413	31346413	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr22:31346413C>T	ENST00000397641.3	-	4	584	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	MORC2_ENST00000215862.4_5'UTR			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	59						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AAATCCTCCTCGAAGGTCCTC	0.488																																						ENST00000397641.2																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(175-177)cGa>cAa		MORC family CW-type zinc finger 2							88.0	77.0	81.0					22																	31346413		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31346413C>T	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.176G>A	22.37:g.31346413C>T	ENSP00000380763:p.Arg59Gln					MORC2_ENST00000215862.4_5'UTR	p.R59Q			Q9Y6X9	MORC2_HUMAN			4	584	-			59					B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.176G>A		.	.	.	.	.	.	.	.	.	.	C	9.142	1.013984	0.19277	.	.	ENSG00000133422	ENST00000397641	T	0.73363	-0.74	5.65	3.15	0.36227	.	0.083705	0.48286	U	0.000182	T	0.68988	0.3061	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62234	-0.6897	7	0.15952	T	0.53	.	11.8691	0.52511	0.0:0.7955:0.1268:0.0777	.	.	.	.	Q	59	ENSP00000380763:R59Q	ENSP00000380763:R59Q	R	-	2	0	MORC2	29676413	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	1.673000	0.37534	1.354000	0.45846	0.650000	0.86243	CGA		0.488	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		6	39	0	0	0	0.248553	0	6	39				
XPA	7507	broad.mit.edu	37	9	100447235	100447235	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:100447235T>A	ENST00000375128.4	-	5	707	c.643A>T	c.(643-645)Aaa>Taa	p.K215*		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	215					DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				TTCTTCTGTTTCATTTTTTCT	0.353			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000375128.4			yes	Rec		Xeroderma pigmentosum (A)	9	9q22.3	7507	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group A"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11						c.(643-645)Aaa>Taa	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group A							237.0	220.0	226.0					9																	100447235		2203	4299	6502	SO:0001587	stop_gained	7507	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity	g.chr9:100447235T>A	D14533	CCDS6729.1	9q22.3	2014-09-17			ENSG00000136936	ENSG00000136936			12814	protein-coding gene	gene with protein product		611153					Standard	NM_000380		Approved	XPAC, XP1	uc004axr.4	P23025	OTTHUMG00000020330	ENST00000375128.4:c.643A>T	9.37:g.100447235T>A	ENSP00000364270:p.Lys215*						p.K215*	NM_000380.3	NP_000371.1	P23025	XPA_HUMAN			5	707	-		Acute lymphoblastic leukemia(62;0.158)	215					Q5T1U9|Q6LCW7|Q6LD02	Nonsense_Mutation	SNP	ENST00000375128.4	37	c.643A>T	CCDS6729.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994788	0.74703	.	.	ENSG00000136936	ENST00000375128	.	.	.	4.98	4.98	0.66077	.	0.144593	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3523	0.66711	0.0:0.0:0.0:1.0	.	.	.	.	X	215	.	ENSP00000364270:K215X	K	-	1	0	XPA	99487056	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.994000	0.76251	2.180000	0.69256	0.383000	0.25322	AAA		0.353	XPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053332.1	NM_000380		5	41	0	0	0	0.217242	0	5	41				
TIAM1	7074	broad.mit.edu	37	21	32639279	32639279	+	Missense_Mutation	SNP	C	C	T	rs371730791	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:32639279C>T	ENST00000286827.3	-	5	481	c.10G>A	c.(10-12)Gca>Aca	p.A4T	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.A4T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	4					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGACTTTCTGCGTTTCCCATG	0.527													C|||	2	0.000399361	0.0	0.0	5008	,	,		21510	0.0		0.0	False		,,,				2504	0.002					ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(10-12)Gca>Aca		T-cell lymphoma invasion and metastasis 1		C	THR/ALA	0,4406		0,0,2203	52.0	54.0	53.0		10	2.9	1.0	21		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM1	NM_003253.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	4/1592	32639279	1,13005	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32639279C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.10G>A	21.37:g.32639279C>T	ENSP00000286827:p.Ala4Thr					TIAM1_ENST00000541036.1_Missense_Mutation_p.A4T|TIAM1_ENST00000469412.1_Intron	p.A4T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			5	481	-			4					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.10G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400583	0.42613	0.0	1.16E-4	ENSG00000156299	ENST00000286827;ENST00000541036;ENST00000455508	T;T	0.49139	0.82;0.79	5.08	2.88	0.33553	.	0.180432	0.48286	N	0.000186	T	0.32436	0.0829	N	0.19112	0.55	0.49213	D	0.999767	B;B;B	0.19331	0.035;0.021;0.021	B;B;B	0.11329	0.006;0.002;0.002	T	0.22906	-1.0203	10	0.72032	D	0.01	.	12.2995	0.54866	0.0:0.8353:0.0:0.1647	.	4;4;4	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	T	4	ENSP00000286827:A4T;ENSP00000441570:A4T	ENSP00000286827:A4T	A	-	1	0	TIAM1	31561150	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.601000	0.54059	1.130000	0.42092	0.460000	0.39030	GCA		0.527	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		19	49	0	0	0	0.639603	0	19	49				
MYH4	4622	broad.mit.edu	37	17	10350362	10350362	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:10350362C>T	ENST00000255381.2	-	35	5247	c.5137G>A	c.(5137-5139)Gcc>Acc	p.A1713T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1713					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGTTCACTGGCATCCAGAAGC	0.488																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(5137-5139)Gcc>Acc		myosin, heavy chain 4, skeletal muscle							150.0	122.0	132.0					17																	10350362		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10350362C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5137G>A	17.37:g.10350362C>T	ENSP00000255381:p.Ala1713Thr					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.A1713T	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			35	5247	-			1713						Missense_Mutation	SNP	ENST00000255381.2	37	c.5137G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080802	0.55753	.	.	ENSG00000141048	ENST00000255381	T	0.79749	-1.3	5.29	5.29	0.74685	Myosin tail (1);	0.000000	0.37136	U	0.002221	T	0.81870	0.4914	M	0.62723	1.935	0.48288	D	0.999624	B	0.17038	0.02	B	0.30029	0.11	T	0.78168	-0.2309	10	0.51188	T	0.08	.	19.286	0.94069	0.0:1.0:0.0:0.0	.	1713	Q9Y623	MYH4_HUMAN	T	1713	ENSP00000255381:A1713T	ENSP00000255381:A1713T	A	-	1	0	MYH4	10291087	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.028000	0.70889	2.646000	0.89796	0.563000	0.77884	GCC		0.488	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		41	66	0	0	0	0.870114	0	41	66				
CLRN2	645104	broad.mit.edu	37	4	17528619	17528619	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr4:17528619G>A	ENST00000511148.2	+	3	715	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	snoU13_ENST00000459186.1_RNA	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	205						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						AAACTTGGTCGTGGTGGCGAT	0.507																																						ENST00000511148.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(613-615)Gtg>Atg		clarin 2							119.0	126.0	123.0					4																	17528619		2169	4263	6432	SO:0001583	missense	645104					integral to membrane		g.chr4:17528619G>A		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.613G>A	4.37:g.17528619G>A	ENSP00000424711:p.Val205Met						p.V205M	NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN			3	715	+			205						Missense_Mutation	SNP	ENST00000511148.2	37	c.613G>A	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.581684	0.65992	.	.	ENSG00000249581	ENST00000511148	T	0.76709	-1.04	5.76	5.76	0.90799	.	0.061924	0.64402	D	0.000005	T	0.78142	0.4237	L	0.47716	1.5	0.44603	D	0.997575	D	0.57899	0.981	P	0.49799	0.622	T	0.80228	-0.1469	10	0.72032	D	0.01	-21.8326	14.1962	0.65672	0.0:0.2632:0.7368:0.0	.	205	A0PK11	CLRN2_HUMAN	M	205	ENSP00000424711:V205M	ENSP00000424711:V205M	V	+	1	0	CLRN2	17137717	1.000000	0.71417	0.946000	0.38457	0.498000	0.33706	4.333000	0.59285	2.736000	0.93811	0.655000	0.94253	GTG		0.507	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		3	74	0	0	0	0.115264	0	3	74				
OR13H1	347468	broad.mit.edu	37	X	130678204	130678204	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:130678204C>T	ENST00000338616.3	+	1	255	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	53						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)					TCACTTTGACCCCAACCTCCA	0.413																																						ENST00000338616.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						c.(157-159)Ccc>Tcc		olfactory receptor, family 13, subfamily H, member 1							198.0	164.0	176.0					X																	130678204		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678204C>T		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.157C>T	X.37:g.130678204C>T	ENSP00000340748:p.Pro53Ser						p.P53S	NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN			1	255	+	Acute lymphoblastic leukemia(192;0.000636)		53					B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.157C>T	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.030886	0.00041	.	.	ENSG00000171054	ENST00000338616	T	0.00514	6.88	4.87	-2.79	0.05841	GPCR, rhodopsin-like superfamily (1);	0.839018	0.09967	N	0.732670	T	0.00271	0.0008	N	0.17474	0.49	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.37572	-0.9700	10	0.02654	T	1	.	7.4986	0.27505	0.0:0.1944:0.1419:0.6637	.	53	Q8NG92	O13H1_HUMAN	S	53	ENSP00000340748:P53S	ENSP00000340748:P53S	P	+	1	0	OR13H1	130505885	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.097000	0.11042	-0.677000	0.05231	-0.881000	0.02953	CCC		0.413	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			70	49	0	0	0	0.870114	0	70	49				
ASTN1	460	broad.mit.edu	37	1	176857225	176857225	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:176857225G>A	ENST00000367654.3	-	18	3291	c.3080C>T	c.(3079-3081)gCg>gTg	p.A1027V	ASTN1_ENST00000424564.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A1019V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1027					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						TGGGAGAGGCGCACAGGTGGG	0.502																																						ENST00000367654.2																			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.(3079-3081)gCg>gTg		astrotactin 1							101.0	91.0	95.0					1																	176857225		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176857225G>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.3080C>T	1.37:g.176857225G>A	ENSP00000356626:p.Ala1027Val					ASTN1_ENST00000361833.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000367657.3_Missense_Mutation_p.A1019V	p.A1027V			O14525	ASTN1_HUMAN			18	3093	-			1027					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3080C>T		.	.	.	.	.	.	.	.	.	.	G	26.4	4.738388	0.89573	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.57184	0.2036	L	0.50333	1.59	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.56697	-0.7936	10	0.87932	D	0	-27.1087	19.5873	0.95495	0.0:0.0:1.0:0.0	.	1019;1019	O14525-2;B1AJS1	.;.	V	1019;1019;1027;1019;1019	ENSP00000356629:A1019V;ENSP00000354536:A1019V;ENSP00000356626:A1027V;ENSP00000395041:A1019V	ENSP00000354536:A1019V	A	-	2	0	ASTN1	175123848	1.000000	0.71417	0.961000	0.40146	0.586000	0.36452	6.261000	0.72509	2.729000	0.93468	0.585000	0.79938	GCG		0.502	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	87	0	0	0	0.307466	0	6	87				
TMPRSS7	344805	broad.mit.edu	37	3	111793168	111793168	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:111793168T>A	ENST00000452346.2	+	14	1695	c.1692T>A	c.(1690-1692)ttT>ttA	p.F564L	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F438L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	564	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACAGAACTTTTAAGTGTGGCA	0.368																																						ENST00000452346.2																			0				breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1690-1692)ttT>ttA		transmembrane protease, serine 7							168.0	155.0	159.0					3																	111793168		1900	4111	6011	SO:0001583	missense	344805				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	g.chr3:111793168T>A	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.1692T>A	3.37:g.111793168T>A	ENSP00000398236:p.Phe564Leu					TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F438L	p.F564L			Q7RTY8	TMPS7_HUMAN			14	1695	+			564			LDL-receptor class A 3.		C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	37	c.1692T>A		.	.	.	.	.	.	.	.	.	.	T	17.79	3.476453	0.63737	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	D;D	0.98889	-5.21;-5.21	6.17	2.6	0.31112	.	0.057135	0.64402	D	0.000001	D	0.97207	0.9087	M	0.76002	2.32	0.39556	D	0.969052	B;B	0.26975	0.165;0.042	B;B	0.31442	0.13;0.033	D	0.95075	0.8208	10	0.49607	T	0.09	.	6.9101	0.24331	0.0:0.3212:0.0:0.6788	.	564;438	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	L	564;552;538;438	ENSP00000398236:F564L;ENSP00000411645:F438L	ENSP00000411645:F438L	F	+	3	2	TMPRSS7	113275858	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.281000	0.18810	0.573000	0.29400	0.533000	0.62120	TTT		0.368	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599		8	92	0	0	0	0.307466	0	8	92				
SLC8A1	6546	broad.mit.edu	37	2	40366712	40366712	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:40366712C>A	ENST00000403092.1	-	10	2407	c.2374G>T	c.(2374-2376)Gtc>Ttc	p.V792F	SLC8A1_ENST00000332839.4_Missense_Mutation_p.V792F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V787F|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V756F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V756F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000406785.2_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V784F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V787F|SLC8A1-AS1_ENST00000597170.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	792					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|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 the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTAGGGGGGACGAAGGCAAAC	0.502																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(2266-2268)Gtc>Ttc		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						159.0	138.0	145.0					2																	40366712		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366712C>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2374G>T	2.37:g.40366712C>A	ENSP00000384763:p.Val792Phe					SLC8A1_ENST00000332839.4_Missense_Mutation_p.V792F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V784F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V787F|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V787F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V756F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.V792F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA	p.V756F			P32418	NAC1_HUMAN			7	2455	-			792					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.2266G>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301702	0.81136	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.34859	1.35;1.39;1.39;1.39;1.35;1.35;1.39;1.34;1.35;1.35	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.84156	2.68	0.80722	D	1	D;D;D;D	0.89917	0.984;1.0;1.0;1.0	D;D;D;D	0.87578	0.936;0.994;0.998;0.992	T	0.70096	-0.4966	10	0.87932	D	0	.	15.9345	0.79691	0.0:1.0:0.0:0.0	.	756;779;787;792	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	F	756;792;787;792;787;756;756;792;784;779;756;756	ENSP00000383886:V756F;ENSP00000440727:V787F;ENSP00000384763:V792F;ENSP00000385678:V787F;ENSP00000385188:V756F;ENSP00000385535:V756F;ENSP00000332931:V792F;ENSP00000384908:V784F;ENSP00000385811:V756F;ENSP00000443515:V756F	ENSP00000332931:V792F	V	-	1	0	SLC8A1	40220216	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.711000	0.84669	2.333000	0.79357	0.563000	0.77884	GTC		0.502	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		23	72	1	0	6.32553e-13	0.681144	6.8287e-13	23	72				
ANKRD49	54851	broad.mit.edu	37	11	94230131	94230131	+	Intron	SNP	T	T	A	rs373617870		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:94230131T>A	ENST00000544612.1	+	2	755				ANKRD49_ENST00000544253.1_Missense_Mutation_p.I91N|ANKRD49_ENST00000302755.4_Intron|ANKRD49_ENST00000540349.1_Missense_Mutation_p.I91N	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49						positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAAAAAAATTACAGAGGGA	0.398																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544253.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(271-273)aTt>aAt		ankyrin repeat domain 49		T		0,4130		0,0,2065	61.0	68.0	66.0			-2.7	0.0	11		66	1,8453		0,1,4226	no	intron	ANKRD49	NM_017704.2		0,1,6291	AA,AT,TT		0.0118,0.0,0.0079			94230131	1,12583	2065	4227	6292	SO:0001627	intron_variant	54851				positive regulation of transcription, DNA-dependent			g.chr11:94230131T>A	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.258+14T>A	11.37:g.94230131T>A						ANKRD49_ENST00000302755.4_Intron|ANKRD49_ENST00000544612.1_Intron|ANKRD49_ENST00000540349.1_Missense_Mutation_p.I91N	p.I91N			Q8WVL7	ANR49_HUMAN			2	390	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	0					Q8NDF2|Q96JE5|Q9NXK7	Missense_Mutation	SNP	ENST00000544612.1	37	c.272T>A	CCDS8300.1	.	.	.	.	.	.	.	.	.	.	T	9.830	1.188079	0.21954	0.0	1.18E-4	ENSG00000168876	ENST00000540349;ENST00000545130;ENST00000544253;ENST00000541144	.	.	.	1.35	-2.69	0.06022	.	.	.	.	.	T	0.29256	0.0728	.	.	.	0.09310	N	1	P	0.49447	0.924	P	0.44811	0.461	T	0.19257	-1.0311	7	0.87932	D	0	.	4.4241	0.11495	0.3735:0.0:0.0:0.6265	.	91	F6R851	.	N	91	.	ENSP00000444030:I91N	I	+	2	0	ANKRD49	93869779	0.002000	0.14202	0.000000	0.03702	0.013000	0.08279	0.415000	0.21181	-0.638000	0.05509	-0.651000	0.03910	ATT		0.398	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		3	76	0	0	0	0.150653	0	3	76				
ITGB5	3693	broad.mit.edu	37	3	124527930	124527930	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:124527930C>G	ENST00000296181.4	-	9	1498	c.1202G>C	c.(1201-1203)tGc>tCc	p.C401S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	401					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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCCATCTTGGCAGGTAGCAGT	0.473																																						ENST00000296181.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30						c.(1201-1203)tGc>tCc		integrin, beta 5							130.0	129.0	130.0					3																	124527930		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124527930C>G	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1202G>C	3.37:g.124527930C>G	ENSP00000296181:p.Cys401Ser					ITGB5_ENST00000488466.1_5'UTR	p.C401S	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	9	1498	-			401					B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.1202G>C	CCDS3030.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982989	0.93044	.	.	ENSG00000082781	ENST00000296181	D	0.95272	-3.66	5.63	5.63	0.86233	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.97660	0.9233	M	0.87682	2.9	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.98139	1.0435	10	0.87932	D	0	.	19.2722	0.94015	0.0:1.0:0.0:0.0	.	401	P18084	ITB5_HUMAN	S	401	ENSP00000296181:C401S	ENSP00000296181:C401S	C	-	2	0	ITGB5	126010620	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.999000	0.76283	2.656000	0.90262	0.655000	0.94253	TGC		0.473	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3	NM_002213		22	129	0	0	0	0.654019	0	22	129				
KRTAP6-2	337967	broad.mit.edu	37	21	31971188	31971188	+	Missense_Mutation	SNP	G	G	C	rs201729927		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:31971188G>C	ENST00000334897.3	-	1	31	c.6C>G	c.(4-6)tgC>tgG	p.C2W	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	2						intermediate filament (GO:0005882)		p.C2C(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AGTAGCTGCCGCACATCGTGA	0.512																																						ENST00000334897.3																			2	Substitution - coding silent(2)	p.C2C(2)	kidney(1)|endometrium(1)	endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(4-6)tgC>tgG		keratin associated protein 6-2							191.0	158.0	169.0					21																	31971188		2203	4300	6503	SO:0001583	missense	337967					intermediate filament		g.chr21:31971188G>C	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"""Keratin associated proteins"""	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.6C>G	21.37:g.31971188G>C	ENSP00000334560:p.Cys2Trp						p.C2W	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN			1	31	-			2						Missense_Mutation	SNP	ENST00000334897.3	37	c.6C>G	CCDS13600.1	.	.	.	.	.	.	.	.	.	.	A	8.003	0.755745	0.15846	.	.	ENSG00000186930	ENST00000334897	T	0.12147	2.71	4.47	3.32	0.38043	.	0.465497	0.16236	U	0.223363	T	0.32615	0.0835	.	.	.	0.41923	D	0.990527	D	0.89917	1.0	D	0.80764	0.994	T	0.02661	-1.1127	9	0.87932	D	0	.	6.3106	0.21163	0.8047:0.0:0.1953:0.0	.	2	Q3LI66	KRA62_HUMAN	W	2	ENSP00000334560:C2W	ENSP00000334560:C2W	C	-	3	2	KRTAP6-2	30893059	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	1.197000	0.32211	0.484000	0.27630	-0.269000	0.10298	TGC		0.512	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			11	82	0	0	0	0.479597	0	11	82				
CAMK1	8536	broad.mit.edu	37	3	9804662	9804662	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:9804662A>T	ENST00000256460.3	-	5	542	c.365T>A	c.(364-366)aTc>aAc	p.I122N	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CACCTGGAAGATGAGGCGGCT	0.597																																						ENST00000256460.3																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12						c.(364-366)aTc>aAc		calcium/calmodulin-dependent protein kinase I							70.0	62.0	64.0					3																	9804662		2203	4300	6503	SO:0001583	missense	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9804662A>T	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.365T>A	3.37:g.9804662A>T	ENSP00000256460:p.Ile122Asn					OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron	p.I122N	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	5	542	-	Medulloblastoma(99;0.227)		122			Protein kinase.		Q3KPF6	Missense_Mutation	SNP	ENST00000256460.3	37	c.365T>A	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	A	25.7	4.666240	0.88251	.	.	ENSG00000134072	ENST00000256460;ENST00000411972	T;T	0.67698	-0.28;-0.28	5.07	5.07	0.68467	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88171	0.2864	10	0.87932	D	0	-12.9082	14.8392	0.70212	1.0:0.0:0.0:0.0	.	122	Q14012	KCC1A_HUMAN	N	122;78	ENSP00000256460:I122N;ENSP00000404587:I78N	ENSP00000256460:I122N	I	-	2	0	CAMK1	9779662	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.287000	0.95975	1.910000	0.55303	0.379000	0.24179	ATC		0.597	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656		16	35	0	0	0	0.520397	0	16	35				
CYYR1	116159	broad.mit.edu	37	21	27945368	27945368	+	5'UTR	SNP	G	G	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:27945368G>A	ENST00000299340.4	-	0	235				CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000435845.2_Silent_p.S72S	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1							integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						AGAGCCGGGTGGAGCAGAGAC	0.716																																						ENST00000435845.2																			0				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						c.(214-216)tcC>tcT		cysteine/tyrosine-rich 1																																				SO:0001623	5_prime_UTR_variant	116159					integral to membrane		g.chr21:27945368G>A	AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.-109C>T	21.37:g.27945368G>A						CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR	p.S72S			Q96J86	CYYR1_HUMAN			1	235	-			0					A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Silent	SNP	ENST00000299340.4	37	c.216C>T	CCDS13578.1																																																																																				0.716	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954		2	3	0	0	0	0.115264	0	2	3				
IFI30	10437	broad.mit.edu	37	19	18285887	18285887	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:18285887C>A	ENST00000407280.3	+	2	345	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	57					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 II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of fibroblast proliferation (GO:0048147)|protein stabilization (GO:0050821)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	oxidoreductase activity, acting on a sulfur group of donors (GO:0016667)			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CTGAAGAAGTCCAATGCACCG	0.582																																						ENST00000407280.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						c.(169-171)tCc>tAc		interferon, gamma-inducible protein 30							59.0	60.0	60.0					19																	18285887		1954	4133	6087	SO:0001583	missense	10437				antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors	g.chr19:18285887C>A	J03909	CCDS46015.1	19p13.1	2008-07-16				ENSG00000216490			5398	protein-coding gene	gene with protein product	"""gamma-interferon-inducible lysosomal thiol reductase"", ""interferon gamma-inducible protein 30 preproprotein"""	604664				3136170, 10639150	Standard	NM_006332		Approved	IFI-30, GILT, IP30, MGC32056	uc002nic.1	P13284		ENST00000407280.3:c.170C>A	19.37:g.18285887C>A	ENSP00000384886:p.Ser57Tyr					PIK3R2_ENST00000593731.1_3'UTR	p.S57Y	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN			2	238	+			57					Q76MF9|Q8NEI4|Q8WU77|Q9UL08	Missense_Mutation	SNP	ENST00000407280.3	37	c.170C>A	CCDS46015.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935869	0.52972	.	.	ENSG00000216490	ENST00000407280	.	.	.	4.22	2.01	0.26516	.	.	.	.	.	T	0.43166	0.1235	L	0.55213	1.73	0.09310	N	1	D	0.56968	0.978	P	0.52267	0.694	T	0.28170	-1.0052	8	0.10377	T	0.69	-41.9989	9.633	0.39791	0.0:0.8211:0.0:0.1789	.	57	P13284	GILT_HUMAN	Y	57	.	ENSP00000384886:S57Y	S	+	2	0	IFI30	18146887	0.406000	0.25344	0.003000	0.11579	0.006000	0.05464	2.129000	0.42055	0.519000	0.28406	0.491000	0.48974	TCC		0.582	IFI30-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466396.3	NM_006332		13	31	1	0	0.00185496	0.435327	0.00195801	13	31				
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	GAGCCAGGCTGTACCAAGGTCCCT	-	rs568163793|rs553429466|rs74134624	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	ENST00000295367.4	+	2	205_228	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)gagccaggctgtaccaaggtccctdel	p.EPGCTKVP95del	SPRR3_ENST00000542696.1_In_Frame_Del_p.EPGCTKVP87del|SPRR3_ENST00000331860.3_In_Frame_Del_p.EPGCTKVP95del	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	95	14 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562																																						ENST00000331860.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(163-186)del		small proline-rich protein 3			,	2036,1952		740,556,698					,	-1.4	0.0		dbSNP_130	70	3135,4775		852,1431,1672	no	coding,coding	SPRR3	NM_005416.2,NM_001097589.1	,	1592,1987,2370	A1A1,A1R,RR		39.6334,48.9468,43.4611	,	,		5171,6727				SO:0001651	inframe_deletion	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	1.37:g.152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	ENSP00000295367:p.Glu95_Pro102del					SPRR3_ENST00000295367.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_ENST00000542696.1_In_Frame_Del_p.EPGCTKVP87del	p.EPGCTKVP95del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	313_336	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		95			14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	In_Frame_Del	DEL	ENST00000295367.4	37	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	CCDS1033.1																																																																																				0.562	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		8	44						8	44	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37310452	37310453	+	Frame_Shift_Ins	INS	-	-	T	rs532790945		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:37310452_37310453insT	ENST00000233099.5	-	2	200_201	c.105_106insA	c.(103-108)aaagtcfs	p.V36fs	GPATCH11_ENST00000281932.5_5'Flank|GPATCH11_ENST00000409774.1_5'Flank|HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.V36fs|GPATCH11_ENST00000608836.1_5'Flank	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	36						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAACCAAGACTTTATCAAGAA	0.371																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(103-108)aatcttfs		HEAT repeat containing 5B																																				SO:0001589	frameshift_variant	54497						binding	g.chr2:37310452_37310453insT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.106dupA	2.37:g.37310455_37310455dupT	ENSP00000233099:p.Val36fs					HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.NL35fs	p.NL35fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			2	200_201	-		all_hematologic(82;0.21)	35					B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Ins	INS	ENST00000233099.5	37	c.105_106insA	CCDS33181.1																																																																																				0.371	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		31	58						31	58	---	---	---	---
ULK4	54986	broad.mit.edu	37	3	41860984	41860985	+	Frame_Shift_Ins	INS	-	-	T	rs76318575		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:41860984_41860985insT	ENST00000301831.4	-	19	2240_2241	c.1778_1779insA	c.(1777-1779)aagfs	p.K593fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	593					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K593fs*17(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCTAGGGTTCTTTTTTTTTTC	0.45																																						ENST00000301831.4																			1	Deletion - Frameshift(1)	p.K593fs*17(1)	ovary(1)	breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1777-1779)aaafs		unc-51 like kinase 4																																				SO:0001589	frameshift_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41860984_41860985insT	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1779dupA	3.37:g.41860994_41860994dupT	ENSP00000301831:p.Lys593fs						p.K593fs	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	19	2240_2241	-			593					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Ins	INS	ENST00000301831.4	37	c.1778_1779insA	CCDS43071.1																																																																																				0.450	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		7	86						7	86	---	---	---	---
AGGF1	55109	broad.mit.edu	37	5	76358966	76358967	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:76358966_76358967insA	ENST00000312916.7	+	14	2416_2417	c.2034_2035insA	c.(2035-2037)aaafs	p.K679fs		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	679					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)		AAAACAAGAACAAAAAAAACTG	0.465																																						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.(2032-2037)aaaaaafs		angiogenic factor with G patch and FHA domains 1																																				SO:0001589	frameshift_variant	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.chr5:76358966_76358967insA	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.2042dupA	5.37:g.76358974_76358974dupA	ENSP00000316109:p.Lys679fs						p.KK678fs	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)	14	2416_2417	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	678					O00581|Q53YS3|Q9BU84|Q9NW66	Frame_Shift_Ins	INS	ENST00000312916.7	37	c.2034_2035insA	CCDS4035.1																																																																																				0.465	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046		7	224						7	224	---	---	---	---
SP4	6671	broad.mit.edu	37	7	21468304	21468306	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:21468304_21468306delAGG	ENST00000222584.3	+	2	235_237	c.17_19delAGG	c.(16-21)aaggag>aag	p.E11del		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	11	Poly-Glu.				regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GATCAGAAGAAGGAGGAGGAGGA	0.517																																						ENST00000222584.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(16-21)aag>a		Sp4 transcription factor				36,4106		7,22,2042						4.5	1.0			20	54,8024		9,36,3994	no	coding	SP4	NM_003112.3		16,58,6036	A1A1,A1R,RR		0.6685,0.8691,0.7365				90,12130				SO:0001651	inframe_deletion	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21468304_21468306delAGG		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.17_19delAGG	7.37:g.21468313_21468315delAGG	ENSP00000222584:p.Glu11del						p.KE6del	NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN			2	235_237	+			6					O60402|Q32M52	In_Frame_Del	DEL	ENST00000222584.3	37	c.17_19delAGG	CCDS5373.1																																																																																				0.517	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		2	4						2	4	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72159821	72159821	+	RNA	DEL	T	T	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:72159821delT	ENST00000435769.2	-	0	1494				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										TCCTTAGTAATTTTTTTTTTT	0.388																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							44.0	37.0	39.0					7																	72159821		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72159821delT	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72159821delT										Q6NUM6	TYW1B_HUMAN			0	984	-								A6NG09|B4DFY2|Q3KQX2	RNA	DEL	ENST00000435769.2	37																																																																																						0.388	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		7	52						7	52	---	---	---	---
C9orf16	79095	broad.mit.edu	37	9	130925872	130925872	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:130925872delC	ENST00000372994.1	+	2	378	c.230delC	c.(229-231)gccfs	p.A77fs	C9orf16_ENST00000492588.1_3'UTR	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN	chromosome 9 open reading frame 16	77										ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		CTCGGGGAGGCCCCCAGTGAT	0.677																																						ENST00000372994.1																			0				ovary(1)	1						c.(229-231)gcfs		chromosome 9 open reading frame 16							13.0	14.0	14.0					9																	130925872		2199	4289	6488	SO:0001589	frameshift_variant	79095							g.chr9:130925872delC	AK022885	CCDS6893.1	9q34.1	2012-03-06			ENSG00000171159	ENSG00000171159			17823	protein-coding gene	gene with protein product						10369878	Standard	NM_024112		Approved	EST00098, FLJ12823, MGC4639	uc004btp.1	Q9BUW7	OTTHUMG00000020731	ENST00000372994.1:c.230delC	9.37:g.130925872delC	ENSP00000362085:p.Ala77fs					C9orf16_ENST00000492588.1_3'UTR	p.A77fs	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN		GBM - Glioblastoma multiforme(294;0.0294)	2	378	+		Myeloproliferative disorder(762;0.0511)	77					Q5SYV8|Q9Y3F7	Frame_Shift_Del	DEL	ENST00000372994.1	37	c.230delC	CCDS6893.1																																																																																				0.677	C9orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054351.1	NM_024112		2	4						2	4	---	---	---	---
LOC102723330	102723330	broad.mit.edu	37	11	17717451	17717452	+	RNA	INS	-	-	GGGCCG	rs201546786|rs77540938		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:17717451_17717452insGGGCCG	ENST00000529781.1	-	0	122				RP11-358H18.3_ENST00000524479.1_lincRNA																							gagaggggccagggccggggcc	0.797																																						ENST00000524479.1																			0																																																			0							g.chr11:17717451_17717452insGGGCCG																													11.37:g.17717452_17717457dupGGGCCG						RP11-358H18.2_ENST00000529781.1_RNA								0	314	+									RNA	INS	ENST00000529781.1	37																																																																																						0.797	RP11-358H18.2-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000389386.1			2	4						2	4	---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65325326	65325328	+	In_Frame_Del	DEL	CAG	CAG	-	rs577530923	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:65325326_65325328delCAG	ENST00000301873.5	-	1	371_373	c.103_105delCTG	c.(103-105)ctgdel	p.L35del	LTBP3_ENST00000322147.4_In_Frame_Del_p.L35del|LTBP3_ENST00000536982.1_5'Flank	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	35	Gly-rich.			Missing (in Ref. 2; BAB15767). {ECO:0000305}.	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						cgcccaggcccagcagcagcagc	0.818																																						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.(103-105)del		latent transforming growth factor beta binding protein 3			,,	2,10,52		1,0,0,5,0,26					,,	2.7	1.0			1	37,32,177		18,0,1,14,4,86	no	codingComplex,utr-5,codingComplex	LTBP3	NM_021070.4,NM_001164266.1,NM_001130144.2	,,	19,0,1,19,4,112	A1A1,A1A2,A1R,A2A2,A2R,RR		28.0488,18.75,26.129	,,	,,		39,42,229				SO:0001651	inframe_deletion	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65325326_65325328delCAG	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.103_105delCTG	11.37:g.65325335_65325337delCAG	ENSP00000301873:p.Leu35del					LTBP3_ENST00000322147.4_In_Frame_Del_p.L35del	p.L35del	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			1	371_373	-			35	Missing (in Ref. 2; BAB15767).		Gly-rich.		O15107|Q96HB9|Q9H7K2|Q9UFN4	In_Frame_Del	DEL	ENST00000301873.5	37	c.103_105delCTG	CCDS44647.1																																																																																				0.818	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		4	7						4	7	---	---	---	---
C11orf54	28970	broad.mit.edu	37	11	93486914	93486914	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:93486914delA	ENST00000331239.4	+	4	400	c.221delA	c.(220-222)caafs	p.Q74fs	C11orf54_ENST00000528288.1_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000528099.1_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000354421.3_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000540113.1_Frame_Shift_Del_p.Q55fs			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	74					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTGTAAACCAAAAAAAAGTA	0.353																																						ENST00000528288.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8						c.(220-222)cafs		chromosome 11 open reading frame 54							99.0	97.0	98.0					11																	93486914		2201	4298	6499	SO:0001589	frameshift_variant	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93486914delA	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.221delA	11.37:g.93486914delA	ENSP00000331209:p.Gln74fs					C11orf54_ENST00000331239.4_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000354421.3_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000528099.1_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000540113.1_Frame_Shift_Del_p.Q55fs	p.Q74fs	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN			4	456	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	74					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Frame_Shift_Del	DEL	ENST00000331239.4	37	c.221delA																																																																																					0.353	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		7	49						7	49	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75265762	75265768	+	Frame_Shift_Del	DEL	GTCTCAT	GTCTCAT	-			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:75265762_75265768delGTCTCAT	ENST00000325680.7	+	5	3886_3892	c.3762_3768delGTCTCAT	c.(3760-3768)cggtctcatfs	p.RSH1254fs	YLPM1_ENST00000238571.3_Frame_Shift_Del_p.RSH1059fs|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1059					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CACCATCTCGGTCTCATGATGGAGATA	0.488																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(3760-3768)cgfs		YLP motif containing 1																																				SO:0001589	frameshift_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265762_75265768delGTCTCAT	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3762_3768delGTCTCAT	14.37:g.75265762_75265768delGTCTCAT	ENSP00000324463:p.Arg1254fs					YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Frame_Shift_Del_p.RSH1059fs	p.RSH1254fs	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	3886_3892	+			1059					P49752|Q96I64|Q9P1V7	Frame_Shift_Del	DEL	ENST00000325680.7	37	c.3762_3768delGTCTCAT	CCDS45135.1																																																																																				0.488	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		7	58						7	58	---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17221576	17221577	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr16:17221576_17221577insT	ENST00000261381.6	-	10	2253_2254	c.2169_2170insA	c.(2167-2172)aaagtcfs	p.V724fs		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	724					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTTGAAGACTTTTTTCGGCA	0.49																																						ENST00000261381.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2167-2172)aatcttfs		xylosyltransferase I																																				SO:0001589	frameshift_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17221576_17221577insT	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2170dupA	16.37:g.17221582_17221582dupT	ENSP00000261381:p.Val724fs						p.NL723fs	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN			10	2253_2254	-			723					Q9H1B6	Frame_Shift_Ins	INS	ENST00000261381.6	37	c.2169_2170insA	CCDS10569.1																																																																																				0.490	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		22	186						22	186	---	---	---	---
