#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
COL5A1	1289	broad.mit.edu	37	9	137622098	137622098	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr9:137622098C>A	ENST00000371817.3	+	7	1355	c.941C>A	c.(940-942)cCc>cAc	p.P314H		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	314	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCCCGACCCCCACGGAAGCT	0.642																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(940-942)cCc>cAc		collagen, type V, alpha 1							89.0	92.0	91.0					9																	137622098		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137622098C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.941C>A	9.37:g.137622098C>A	ENSP00000360882:p.Pro314His						p.P314H	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	7	1355	+		Myeloproliferative disorder(178;0.0341)	314			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.941C>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	9.133	1.011863	0.19277	.	.	ENSG00000130635	ENST00000371817	D	0.90069	-2.61	4.37	3.45	0.39498	.	1.059630	0.07462	U	0.900878	D	0.85575	0.5728	L	0.40543	1.245	0.23577	N	0.997374	B	0.32918	0.39	B	0.33295	0.161	T	0.73858	-0.3850	10	0.51188	T	0.08	.	11.5754	0.50858	0.0:0.9078:0.0:0.0922	.	314	P20908	CO5A1_HUMAN	H	314	ENSP00000360882:P314H	ENSP00000360882:P314H	P	+	2	0	COL5A1	136761919	0.002000	0.14202	0.079000	0.20413	0.126000	0.20510	1.457000	0.35212	0.790000	0.33803	0.563000	0.77884	CCC		0.642	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		11	87	1	0	3.86212e-05	1	4.301e-05	11	87				
NRAP	4892	broad.mit.edu	37	10	115391714	115391714	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr10:115391714T>C	ENST00000359988.3	-	17	1886	c.1642A>G	c.(1642-1644)Aaa>Gaa	p.K548E	NRAP_ENST00000369358.4_Missense_Mutation_p.K548E|NRAP_ENST00000369360.3_Missense_Mutation_p.K513E|NRAP_ENST00000360478.3_Missense_Mutation_p.K513E	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.K548E(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGCCTTCTTTATACTTAACC	0.443																																						ENST00000369358.4																			1	Substitution - Missense(1)	p.K548E(1)	upper_aerodigestive_tract(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(1642-1644)Aaa>Gaa		nebulin-related anchoring protein							105.0	99.0	101.0					10																	115391714		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115391714T>C		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.1642A>G	10.37:g.115391714T>C	ENSP00000353078:p.Lys548Glu					NRAP_ENST00000360478.3_Missense_Mutation_p.K513E|NRAP_ENST00000369360.3_Missense_Mutation_p.K513E|NRAP_ENST00000359988.3_Missense_Mutation_p.K548E	p.K548E			Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	17	1886	-		Colorectal(252;0.0233)|Breast(234;0.188)	548						Missense_Mutation	SNP	ENST00000359988.3	37	c.1642A>G	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.197781	0.79015	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	5.39	5.39	0.77823	.	0.096199	0.64402	D	0.000001	D	0.82669	0.5087	M	0.87547	2.89	0.32147	N	0.584733	P;P;P	0.43231	0.801;0.763;0.801	P;P;P	0.58391	0.73;0.749;0.838	D	0.87885	0.2680	10	0.87932	D	0	.	15.4565	0.75318	0.0:0.0:0.0:1.0	.	548;513;548	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	E	548;513;548;513;277;277	ENSP00000358365:K548E;ENSP00000358367:K513E;ENSP00000353078:K548E;ENSP00000353666:K513E	ENSP00000353078:K548E	K	-	1	0	NRAP	115381704	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.416000	0.80143	2.055000	0.61198	0.392000	0.25879	AAA		0.443	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		6	24	0	0	0	1	0	6	24				
SLC9A2	6549	broad.mit.edu	37	2	103318897	103318897	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:103318897C>A	ENST00000233969.2	+	9	1923	c.1781C>A	c.(1780-1782)aCg>aAg	p.T594K	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	594					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGGAAGGTCACGTCCAGTGAA	0.303																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1780-1782)aCg>aAg		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							74.0	81.0	79.0					2																	103318897		2203	4300	6503	SO:0001583	missense	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103318897C>A		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1781C>A	2.37:g.103318897C>A	ENSP00000233969:p.Thr594Lys					SLC9A2_ENST00000469286.1_3'UTR	p.T594K	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			9	1923	+			594					B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	c.1781C>A	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	8.995	0.978705	0.18812	.	.	ENSG00000115616	ENST00000233969	T	0.50001	0.76	5.73	5.73	0.89815	.	0.526559	0.16735	U	0.201685	T	0.28962	0.0719	N	0.14661	0.345	0.33462	D	0.585048	P	0.40794	0.729	B	0.34873	0.191	T	0.29971	-0.9994	10	0.13470	T	0.59	.	15.4929	0.75624	0.139:0.861:0.0:0.0	.	594	Q9UBY0	SL9A2_HUMAN	K	594	ENSP00000233969:T594K	ENSP00000233969:T594K	T	+	2	0	SLC9A2	102685329	0.979000	0.34478	0.986000	0.45419	0.012000	0.07955	3.672000	0.54583	2.713000	0.92767	0.591000	0.81541	ACG		0.303	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			5	79	1	0	0.000602214	1	0.000627841	5	79				
MSTN	2660	broad.mit.edu	37	2	190922014	190922014	+	Silent	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:190922014C>T	ENST00000260950.4	-	3	1230	c.1098G>A	c.(1096-1098)gcG>gcA	p.A366A	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	366					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CTACTACCATCGCTGGAATTT	0.393																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(1096-1098)gcG>gcA		myostatin							56.0	58.0	58.0					2																	190922014		2194	4291	6485	SO:0001819	synonymous_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190922014C>T	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.1098G>A	2.37:g.190922014C>T						C2orf88_ENST00000478197.1_Intron	p.A366A	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		3	1230	-			366					A1C2J7|A1C2K0|Q6B0H2	Silent	SNP	ENST00000260950.4	37	c.1098G>A	CCDS2303.1																																																																																				0.393	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		5	43	0	0	0	1	0	5	43				
PAGE2B	389860	broad.mit.edu	37	X	55103899	55103899	+	Silent	SNP	T	T	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chrX:55103899T>A	ENST00000374971.1	+	4	313	c.261T>A	c.(259-261)ggT>ggA	p.G87G	PAGE2B_ENST00000374974.3_Silent_p.G70G	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN	P antigen family, member 2B	87										lung(3)	3						CTGGAGATGGTCCTGATGTCA	0.398																																						ENST00000374971.1																			0				lung(3)	3						c.(259-261)ggT>ggA		P antigen family, member 2B							205.0	155.0	172.0					X																	55103899		2202	4300	6502	SO:0001819	synonymous_variant	389860							g.chrX:55103899T>A		CCDS35304.1	Xp11.22	2009-06-17			ENSG00000238269	ENSG00000238269			31805	protein-coding gene	gene with protein product							Standard	NM_001015038		Approved	CT16.5	uc004due.4	Q5JRK9	OTTHUMG00000021645	ENST00000374971.1:c.261T>A	X.37:g.55103899T>A						PAGE2B_ENST00000374974.3_Silent_p.G70G	p.G87G	NM_001015038.1	NP_001015038.1	Q5JRK9	GGEE3_HUMAN			4	313	+			87					A1L414	Silent	SNP	ENST00000374971.1	37	c.261T>A	CCDS35304.1																																																																																				0.398	PAGE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056849.1	XM_372224		11	93	0	0	0	1	0	11	93				
CORO7	79585	broad.mit.edu	37	16	4408455	4408455	+	Silent	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr16:4408455G>A	ENST00000251166.4	-	24	2515	c.2370C>T	c.(2368-2370)tgC>tgT	p.C790C	CORO7_ENST00000539968.1_Silent_p.C570C|CORO7-PAM16_ENST00000572467.1_Silent_p.C790C|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000574025.1_Silent_p.C705C|CORO7_ENST00000537233.2_Silent_p.C772C|PAM16_ENST00000576217.1_5'Flank	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	790					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.C790C(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CCCGCACGTCGCACTCCGTCT	0.692																																						ENST00000251166.4																			1	Substitution - coding silent(1)	p.C790C(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						c.(2368-2370)tgC>tgT		coronin 7							37.0	39.0	39.0					16																	4408455		2195	4298	6493	SO:0001819	synonymous_variant	79585							g.chr16:4408455G>A	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2370C>T	16.37:g.4408455G>A						CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7_ENST00000574025.1_Silent_p.C705C|CORO7_ENST00000537233.2_Silent_p.C772C|CORO7-PAM16_ENST00000572467.1_Silent_p.C790C|CORO7_ENST00000539968.1_Silent_p.C570C	p.C790C	NM_024535.4	NP_078811.3					24	2515	-								B4DFD6|B4DL18|I3L416|Q17RK4	Silent	SNP	ENST00000251166.4	37	c.2370C>T	CCDS10513.1																																																																																				0.692	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535		3	23	0	0	0	1	0	3	23				
CLK1	1195	broad.mit.edu	37	2	201722751	201722751	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:201722751G>A	ENST00000321356.4	-	6	745	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	CLK1_ENST00000434813.2_Missense_Mutation_p.R246C|CLK1_ENST00000409769.2_Missense_Mutation_p.R27C|CLK1_ENST00000492793.1_5'Flank	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTTCTGAGCGAGCAGCTTCA	0.368																																						ENST00000434813.2																			0				NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(736-738)Cgc>Tgc		CDC-like kinase 1							170.0	162.0	165.0					2																	201722751		2202	4300	6502	SO:0001583	missense	1195				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr2:201722751G>A	L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.610C>T	2.37:g.201722751G>A	ENSP00000326830:p.Arg204Cys					CLK1_ENST00000321356.4_Missense_Mutation_p.R204C|CLK1_ENST00000409769.2_Missense_Mutation_p.R27C	p.R246C	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN			6	1070	-			204			Protein kinase.		B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	c.736C>T	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973405	0.74246	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.66995	-0.24;-0.24;-0.24	5.71	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.277896	0.37053	N	0.002263	T	0.74129	0.3676	L	0.58669	1.825	0.38636	D	0.951504	D;D;D;D	0.69078	0.997;0.985;0.985;0.993	P;P;P;P	0.58391	0.838;0.759;0.759;0.587	T	0.78360	-0.2234	10	0.87932	D	0	.	12.6513	0.56764	0.1306:0.0:0.8694:0.0	.	246;174;204;27	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	C	204;174;27;246	ENSP00000326830:R204C;ENSP00000386358:R27C;ENSP00000394734:R246C	ENSP00000326830:R204C	R	-	1	0	CLK1	201430996	0.447000	0.25673	1.000000	0.80357	0.998000	0.95712	1.051000	0.30417	2.697000	0.92050	0.563000	0.77884	CGC		0.368	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			4	110	0	0	0	1	0	4	110				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	26	0	0	0	1	0	4	26				
UBR2	23304	broad.mit.edu	37	6	42600572	42600572	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr6:42600572G>A	ENST00000372899.1	+	13	1733	c.1475G>A	c.(1474-1476)tGg>tAg	p.W492*	UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372901.1_Nonsense_Mutation_p.W492*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	492					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CCAACTGAATGGTCAGATGAG	0.333																																						ENST00000372899.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(1474-1476)tGg>tAg		ubiquitin protein ligase E3 component n-recognin 2							89.0	87.0	87.0					6																	42600572		2203	4300	6503	SO:0001587	stop_gained	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42600572G>A	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.1475G>A	6.37:g.42600572G>A	ENSP00000361990:p.Trp492*					UBR2_ENST00000372901.1_Nonsense_Mutation_p.W492*|UBR2_ENST00000372883.3_5'UTR	p.W492*	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		13	1733	+	Colorectal(47;0.196)		492					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Nonsense_Mutation	SNP	ENST00000372899.1	37	c.1475G>A	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	G	41	8.709232	0.98922	.	.	ENSG00000024048	ENST00000372899;ENST00000372901	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-15.0597	18.8498	0.92224	0.0:0.0:1.0:0.0	.	.	.	.	X	492	.	ENSP00000361990:W492X	W	+	2	0	UBR2	42708550	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.416000	0.97383	2.496000	0.84212	0.655000	0.94253	TGG		0.333	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		10	27	0	0	0	1	0	10	27				
KCNQ3	3786	broad.mit.edu	37	8	133152366	133152366	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr8:133152366C>T	ENST00000388996.4	-	11	1945	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.E509K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.E389K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	509					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ATCATGTCTTCGATGGGGAAG	0.627																																						ENST00000388996.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1525-1527)Gaa>Aaa		potassium voltage-gated channel, KQT-like subfamily, member 3							70.0	72.0	71.0					8																	133152366		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133152366C>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1525G>A	8.37:g.133152366C>T	ENSP00000373648:p.Glu509Lys					KCNQ3_ENST00000519445.1_Missense_Mutation_p.E509K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.E389K	p.E509K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		11	1945	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		509					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1525G>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345101	0.82022	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99691	-6.42;-6.42;-6.42	6.03	6.03	0.97812	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99588	0.9851	M	0.72353	2.195	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	P;P	0.61477	0.889;0.889	D	0.98650	1.0679	10	0.72032	D	0.01	-21.4578	19.545	0.95291	0.0:1.0:0.0:0.0	.	509;509	E7ET42;O43525	.;KCNQ3_HUMAN	K	509;389;509;498;388	ENSP00000373648:E509K;ENSP00000429799:E389K;ENSP00000428790:E509K	ENSP00000373648:E509K	E	-	1	0	KCNQ3	133221548	1.000000	0.71417	0.975000	0.42487	0.355000	0.29361	5.732000	0.68563	2.861000	0.98227	0.655000	0.94253	GAA		0.627	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		16	13	0	0	0	1	0	16	13				
RFX3	5991	broad.mit.edu	37	9	3330293	3330293	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr9:3330293G>A	ENST00000382004.3	-	5	751	c.440C>T	c.(439-441)tCa>tTa	p.S147L	RFX3_ENST00000302303.1_Missense_Mutation_p.S147L|RFX3_ENST00000358730.2_Missense_Mutation_p.S147L	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	147					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTGTGTCACTGAGTGACCAGA	0.453																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(439-441)tCa>tTa		regulatory factor X, 3 (influences HLA class II expression)							110.0	90.0	96.0					9																	3330293		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3330293G>A	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.440C>T	9.37:g.3330293G>A	ENSP00000371434:p.Ser147Leu					RFX3_ENST00000302303.1_Missense_Mutation_p.S147L|RFX3_ENST00000358730.2_Missense_Mutation_p.S147L	p.S147L	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	5	751	-			147					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.440C>T	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255832	0.59321	.	.	ENSG00000080298	ENST00000382004;ENST00000381992;ENST00000358730;ENST00000302303;ENST00000457373;ENST00000451859;ENST00000442560;ENST00000420720;ENST00000381985	T;T;T;T;T;T;T	0.66638	0.26;0.24;0.24;-0.22;1.3;1.39;1.36	5.37	5.37	0.77165	.	0.319446	0.34411	N	0.003998	T	0.70482	0.3229	L	0.32530	0.975	0.40954	D	0.984564	B;P;B;B	0.50443	0.415;0.935;0.066;0.04	B;P;B;B	0.56042	0.101;0.79;0.048;0.04	T	0.68584	-0.5370	10	0.34782	T	0.22	-1.4531	19.0861	0.93203	0.0:0.0:1.0:0.0	.	147;147;147;147	B1ANP5;P48380-3;P48380-2;P48380	.;.;.;RFX3_HUMAN	L	147;147;147;147;147;147;108;108;147	ENSP00000371434:S147L;ENSP00000351574:S147L;ENSP00000303847:S147L;ENSP00000405664:S147L;ENSP00000411756:S147L;ENSP00000410988:S108L;ENSP00000416189:S108L	ENSP00000303847:S147L	S	-	2	0	RFX3	3320293	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.190000	0.77755	2.673000	0.90976	0.467000	0.42956	TCA		0.453	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		5	50	0	0	0	1	0	5	50				
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	rs569602183	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr10:51754173G>T	ENST00000374056.4	+	3	709	c.311G>T	c.(310-312)aGc>aTc	p.S104I	AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	104					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S127I(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269																																						ENST00000374056.4																			2	Substitution - Missense(2)	p.S127I(2)	prostate(1)|kidney(1)	NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 6							47.0	39.0	41.0					10																	51754173		692	1583	2275	SO:0001583	missense	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51754173G>T		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.311G>T	10.37:g.51754173G>T	ENSP00000363168:p.Ser104Ile					AGAP6_ENST00000412531.3_Missense_Mutation_p.S127I	p.S104I			C9IYN2	C9IYN2_HUMAN			3	709	+			127						Missense_Mutation	SNP	ENST00000374056.4	37	c.311G>T		.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145481	0.06627	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	D	0.88124	-2.34	1.7	0.742	0.18341	.	0.278236	0.34555	N	0.003870	D	0.82788	0.5113	M	0.75615	2.305	0.21020	N	0.99981	B	0.26935	0.164	B	0.19946	0.027	T	0.74839	-0.3528	10	0.72032	D	0.01	.	6.1199	0.20148	0.1849:0.0:0.8151:0.0	.	127	C9IYN2	.	I	127;104	ENSP00000400972:S104I	ENSP00000363168:S127I	S	+	2	0	AGAP6	51424179	1.000000	0.71417	0.936000	0.37596	0.258000	0.26162	1.038000	0.30254	0.263000	0.21812	0.184000	0.17185	AGC		0.269	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		4	49	1	0	0.184627	1	0.184627	4	49				
ECHS1	1892	broad.mit.edu	37	10	135180423	135180423	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr10:135180423G>A	ENST00000368547.3	-	5	944	c.589C>T	c.(589-591)Cgg>Tgg	p.R197W		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	197				R -> A (in Ref. 1; BAA03001). {ECO:0000305}.	cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		GCTGAGATCCGGTCACCAGTG	0.667																																					GBM(132;1720 1771 5373 10277 21402)	ENST00000368547.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10						c.(589-591)Cgg>Tgg		enoyl CoA hydratase, short chain, 1, mitochondrial							74.0	59.0	64.0					10																	135180423		2203	4299	6502	SO:0001583	missense	1892				fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	g.chr10:135180423G>A		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.589C>T	10.37:g.135180423G>A	ENSP00000357535:p.Arg197Trp						p.R197W	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	5	944	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	197	R -> A (in Ref. 1; BAA03001).				O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	c.589C>T	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.119903	0.77323	.	.	ENSG00000127884	ENST00000368547	T	0.69685	-0.42	5.92	5.01	0.66863	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.78355	0.4270	M	0.73319	2.225	0.52099	D	0.99994	D	0.89917	1.0	D	0.65773	0.938	T	0.78966	-0.1995	10	0.46703	T	0.11	.	12.4754	0.55809	0.0:0.0:0.8327:0.1673	.	197	P30084	ECHM_HUMAN	W	197	ENSP00000357535:R197W	ENSP00000357535:R197W	R	-	1	2	ECHS1	135030413	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	1.308000	0.33528	1.489000	0.48450	0.650000	0.86243	CGG		0.667	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1			4	38	0	0	0	1	0	4	38				
GEMIN4	50628	broad.mit.edu	37	17	650797	650797	+	Silent	SNP	G	G	A	rs61753061	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr17:650797G>A	ENST00000319004.5	-	2	604	c.486C>T	c.(484-486)gaC>gaT	p.D162D	GEMIN4_ENST00000437269.1_Silent_p.D162D|GEMIN4_ENST00000576778.1_Silent_p.D151D	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	162					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCCACCAGACGTCCAGGAAGA	0.567													G|||	4	0.000798722	0.0	0.0	5008	,	,		20007	0.0		0.004	False		,,,				2504	0.0					ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(451-453)gaC>gaT		gem (nuclear organelle) associated protein 4		G		2,4102		0,2,2050	131.0	137.0	135.0		486	-2.7	0.1	17	dbSNP_129	135	25,8339		0,25,4157	no	coding-synonymous	GEMIN4	NM_015721.2		0,27,6207	AA,AG,GG		0.2989,0.0487,0.2166		162/1059	650797	27,12441	2052	4182	6234	SO:0001819	synonymous_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650797G>A	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.486C>T	17.37:g.650797G>A						GEMIN4_ENST00000319004.5_Silent_p.D162D|GEMIN4_ENST00000437269.1_Silent_p.D162D	p.D151D			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	1794	-		Myeloproliferative disorder(207;0.204)	162					Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	c.453C>T	CCDS45559.1																																																																																				0.567	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		6	98	0	0	0	1	0	6	98				
WDPCP	51057	broad.mit.edu	37	2	63666959	63666959	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:63666959G>A	ENST00000272321.7	-	7	958	c.431C>T	c.(430-432)cCg>cTg	p.P144L	WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409562.3_Missense_Mutation_p.P144L|WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000398544.3_5'Flank	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	144					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CTCCAGCTGCGGCCCAGAAAG	0.493																																						ENST00000409562.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						c.(430-432)cCg>cTg		WD repeat containing planar cell polarity effector							116.0	114.0	114.0					2																	63666959		1949	4157	6106	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63666959G>A		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.431C>T	2.37:g.63666959G>A	ENSP00000272321:p.Pro144Leu					WDPCP_ENST00000272321.7_Missense_Mutation_p.P144L|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000409199.1_Intron	p.P144L			O95876	FRITZ_HUMAN			7	677	-			144					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.431C>T	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040721	0.55003	.	.	ENSG00000143951	ENST00000272321;ENST00000409562	T;T	0.50548	0.74;0.74	5.26	5.26	0.73747	.	0.065060	0.64402	D	0.000009	T	0.58566	0.2131	L	0.53249	1.67	0.51482	D	0.999924	D;P	0.67145	0.996;0.692	P;B	0.54100	0.742;0.142	T	0.59648	-0.7415	10	0.49607	T	0.09	-3.572	18.8672	0.92298	0.0:0.0:1.0:0.0	.	144;144	O95876-2;O95876	.;FRITZ_HUMAN	L	144	ENSP00000272321:P144L;ENSP00000387222:P144L	ENSP00000272321:P144L	P	-	2	0	WDPCP	63520463	1.000000	0.71417	0.936000	0.37596	0.948000	0.59901	7.500000	0.81588	2.462000	0.83206	0.655000	0.94253	CCG		0.493	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		14	62	0	0	0	1	0	14	62				
RWDD3	25950	broad.mit.edu	37	1	95712099	95712099	+	Splice_Site	SNP	A	A	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:95712099A>G	ENST00000370202.4	+	3	651	c.575A>G	c.(574-576)gAg>gGg	p.E192G	RWDD3_ENST00000263893.6_Intron|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.5_ENST00000598739.1_RNA	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	192					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		ATTATTTAGGAGTACTTGATT	0.328																																						ENST00000370202.4																			0				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.e3-1		RWD domain containing 3							76.0	72.0	73.0					1																	95712099		1804	4066	5870	SO:0001630	splice_region_variant	25950					cytoplasm|nucleus	protein binding	g.chr1:95712099A>G	BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.574-1A>G	1.37:g.95712099A>G						RWDD3_ENST00000263893.6_Intron|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.5_ENST00000444665.1_RNA	p.E192_splice	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300.2	Q9Y3V2	RWDD3_HUMAN		all cancers(265;0.112)|Epithelial(280;0.229)	3	651	+		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)	192					A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Splice_Site	SNP	ENST00000370202.4	37	c.573_splice	CCDS41357.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254451	0.80135	.	.	ENSG00000122481	ENST00000370202	T	0.38560	1.13	6.03	6.03	0.97812	.	0.159409	0.53938	D	0.000050	T	0.55878	0.1948	.	.	.	0.80722	D	1	D	0.76494	0.999	P	0.61874	0.895	T	0.62077	-0.6930	9	0.87932	D	0	-9.7209	16.5582	0.84512	1.0:0.0:0.0:0.0	.	192	Q9Y3V2	RWDD3_HUMAN	G	192	ENSP00000359221:E192G	ENSP00000359221:E192G	E	+	2	0	RWDD3	95484687	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.049000	0.76613	2.308000	0.77769	0.533000	0.62120	GAG		0.328	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030078.1	NM_015485	Missense_Mutation	8	33	0	0	0	1	0	8	33				
SIPA1L1	26037	broad.mit.edu	37	14	72055491	72055491	+	Missense_Mutation	SNP	A	A	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr14:72055491A>G	ENST00000555818.1	+	2	1250	c.902A>G	c.(901-903)aAt>aGt	p.N301S	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.N301S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.N301S	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	301					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAATTGCGCAATGCCAAAGGT	0.438																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(901-903)aAt>aGt		signal-induced proliferation-associated 1 like 1							67.0	71.0	70.0					14																	72055491		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72055491A>G	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.902A>G	14.37:g.72055491A>G	ENSP00000450832:p.Asn301Ser					SIPA1L1_ENST00000358550.2_Missense_Mutation_p.N301S|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.N301S	p.N301S	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	2	1250	+			301					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.902A>G	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	A	2.117	-0.402303	0.04865	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.39787	1.06;1.06;1.06	6.07	6.07	0.98685	.	0.078520	0.85682	D	0.000000	T	0.23572	0.0570	N	0.05383	-0.06	0.80722	D	1	B;B;B	0.25521	0.025;0.104;0.128	B;B;B	0.24155	0.02;0.051;0.039	T	0.13308	-1.0514	10	0.07175	T	0.84	-34.3801	16.6406	0.85098	1.0:0.0:0.0:0.0	.	301;301;301	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	S	301	ENSP00000370630:N301S;ENSP00000450832:N301S;ENSP00000351352:N301S	ENSP00000351352:N301S	N	+	2	0	SIPA1L1	71125244	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	5.638000	0.67861	2.326000	0.78906	0.533000	0.62120	AAT		0.438	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		14	40	0	0	0	1	0	14	40				
LILRA1	11024	broad.mit.edu	37	19	55107307	55107307	+	Missense_Mutation	SNP	C	C	A	rs139230831	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr19:55107307C>A	ENST00000251372.3	+	6	1047	c.865C>A	c.(865-867)Cgc>Agc	p.R289S	LILRA1_ENST00000453777.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	289	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCCTGTGAGCCGCTCCTACGG	0.642																																						ENST00000251372.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47						c.(865-867)Cgc>Agc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1							43.0	58.0	53.0					19																	55107307		2203	4300	6503	SO:0001583	missense	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55107307C>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.865C>A	19.37:g.55107307C>A	ENSP00000251372:p.Arg289Ser					LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron	p.R289S	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	6	1047	+			289			Ig-like C2-type 3.		O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	37	c.865C>A	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.206522	0.00292	.	.	ENSG00000104974	ENST00000251372	T	0.12039	2.72	1.58	-3.16	0.05217	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	3.535700	0.01092	N	0.005193	T	0.06554	0.0168	N	0.16130	0.375	0.09310	N	1	B	0.15141	0.012	B	0.18561	0.022	T	0.25293	-1.0136	10	0.12766	T	0.61	.	0.1268	0.00070	0.3621:0.2034:0.1823:0.2522	.	289	O75019	LIRA1_HUMAN	S	289	ENSP00000251372:R289S	ENSP00000251372:R289S	R	+	1	0	LILRA1	59799119	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-4.438000	0.00234	-2.102000	0.00845	0.194000	0.17425	CGC		0.642	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		7	40	1	0	0.000157383	1	0.000171373	7	40				
SPTAN1	6709	broad.mit.edu	37	9	131370160	131370160	+	Silent	SNP	T	T	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr9:131370160T>G	ENST00000372731.4	+	33	4286	c.4176T>G	c.(4174-4176)gcT>gcG	p.A1392A	SPTAN1_ENST00000372739.3_Silent_p.A1392A|SPTAN1_ENST00000358161.5_Silent_p.A1392A	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1392					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ATGCCAGGGCTGGCACTTTCC	0.537																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000372739.3																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(4174-4176)gcT>gcG		spectrin, alpha, non-erythrocytic 1							71.0	64.0	66.0					9																	131370160		2203	4300	6503	SO:0001819	synonymous_variant	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131370160T>G	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.4176T>G	9.37:g.131370160T>G						SPTAN1_ENST00000372731.4_Silent_p.A1392A|SPTAN1_ENST00000358161.5_Silent_p.A1392A	p.A1392A	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN			33	4286	+			1392					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	c.4176T>G	CCDS6905.1																																																																																				0.537	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		7	57	0	0	0	1	0	7	57				
CYFIP2	26999	broad.mit.edu	37	5	156734872	156734872	+	Splice_Site	SNP	A	A	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr5:156734872A>T	ENST00000521420.1	+	8	912	c.821A>T	c.(820-822)aAg>aTg	p.K274M	CYFIP2_ENST00000377576.3_Splice_Site_p.K300M|CYFIP2_ENST00000522463.1_Splice_Site_p.K104M|CYFIP2_ENST00000347377.6_Splice_Site_p.K300M|CYFIP2_ENST00000318218.6_Splice_Site_p.K300M|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000541131.1_Splice_Site_p.K225M					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAATTCTTTAAGGTCAGCAAC	0.453																																						ENST00000347377.6																			0				breast(1)|endometrium(12)|kidney(2)|lung(23)	38						c.e9+1		cytoplasmic FMR1 interacting protein 2							38.0	37.0	37.0					5																	156734872		1828	4080	5908	SO:0001630	splice_region_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156734872A>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.822+1A>T	5.37:g.156734872A>T						CYFIP2_ENST00000377576.3_Splice_Site_p.K300_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.K300_splice|CYFIP2_ENST00000521420.1_Splice_Site_p.K274_splice|CYFIP2_ENST00000541131.1_Splice_Site_p.K225_splice|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Splice_Site_p.K104_splice	p.K300_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		9	1330	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	300						Splice_Site	SNP	ENST00000521420.1	37	c.900_splice		.	.	.	.	.	.	.	.	.	.	A	28.8	4.953464	0.92660	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T;T	0.46451	0.87;1.56;0.87;0.87;0.87;0.87	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.65144	0.2663	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.998;0.959;1.0;0.998;0.98	D;D;P;D;D;D	0.76575	0.988;0.954;0.717;0.98;0.97;0.948	T	0.69639	-0.5091	10	0.87932	D	0	-33.9391	15.6034	0.76642	1.0:0.0:0.0:0.0	.	164;104;274;300;300;300	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	M	300;104;274;300;300;225	ENSP00000325817:K300M;ENSP00000428009:K104M;ENSP00000430904:K274M;ENSP00000313567:K300M;ENSP00000366799:K300M;ENSP00000444645:K225M	ENSP00000325817:K300M	K	+	2	0	CYFIP2	156667450	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.288000	0.96055	2.094000	0.63399	0.459000	0.35465	AAG		0.453	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332	Missense_Mutation	4	4	0	0	0	1	0	4	4				
SP140L	93349	broad.mit.edu	37	2	231264887	231264887	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:231264887C>G	ENST00000415673.2	+	15	1329	c.1243C>G	c.(1243-1245)Ctg>Gtg	p.L415V	SP140L_ENST00000243810.6_Missense_Mutation_p.L415V|SP140L_ENST00000444636.1_Missense_Mutation_p.L415V|SP140L_ENST00000396563.4_Missense_Mutation_p.L380V	NM_138402.4	NP_612411.4	Q9H930	SP14L_HUMAN	SP140 nuclear body protein-like	415						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CGGAGGGGAGCTGTTCTGTTG	0.502																																						ENST00000243810.6																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						c.(1243-1245)Ctg>Gtg		SP140 nuclear body protein-like							194.0	200.0	198.0					2																	231264887		2091	4242	6333	SO:0001583	missense	93349					nucleus	DNA binding|metal ion binding	g.chr2:231264887C>G	BC004921	CCDS46538.1	2q37.1	2013-01-28			ENSG00000185404	ENSG00000185404		"""Zinc fingers, PHD-type"""	25105	protein-coding gene	gene with protein product						12477932	Standard	NM_138402		Approved		uc010fxm.1	Q9H930	OTTHUMG00000153730	ENST00000415673.2:c.1243C>G	2.37:g.231264887C>G	ENSP00000397911:p.Leu415Val					SP140L_ENST00000415673.2_Missense_Mutation_p.L415V|SP140L_ENST00000396563.4_Missense_Mutation_p.L380V|SP140L_ENST00000444636.1_Missense_Mutation_p.L415V	p.L415V			Q9H930	LY10L_HUMAN			15	1243	+			415					Q2M375|Q4ZG65|Q9BSP3	Missense_Mutation	SNP	ENST00000415673.2	37	c.1243C>G	CCDS46538.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281098	0.23392	.	.	ENSG00000185404	ENST00000444636;ENST00000415673;ENST00000243810;ENST00000396563	D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5	3.33	2.44	0.29823	.	.	.	.	.	D	0.91891	0.7433	M	0.72894	2.215	0.22648	N	0.998896	D;D	0.59357	0.965;0.985	P;D	0.64321	0.753;0.924	T	0.82472	-0.0440	9	0.87932	D	0	.	6.8765	0.24149	0.0:0.8657:0.0:0.1343	.	380;415	Q9H930-2;Q9H930-4	.;.	V	415;415;415;380	ENSP00000395195:L415V;ENSP00000397911:L415V;ENSP00000243810:L415V;ENSP00000379811:L380V	ENSP00000243810:L415V	L	+	1	2	SP140L	230973131	0.034000	0.19679	0.290000	0.24890	0.205000	0.24178	0.432000	0.21461	0.729000	0.32403	0.313000	0.20887	CTG		0.502	SP140L-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374538.1	NM_138402		3	55	0	0	0	1	0	3	55				
SIM1	6492	broad.mit.edu	37	6	100841761	100841761	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr6:100841761G>A	ENST00000369208.3	-	11	1954	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIM1_ENST00000262901.4_Missense_Mutation_p.S391L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	391	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTGAAATCCCGAATACTGAAA	0.463																																						ENST00000369208.3																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1171-1173)tCg>tTg		single-minded family bHLH transcription factor 1							28.0	29.0	29.0					6																	100841761		2187	4257	6444	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841761G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1172C>T	6.37:g.100841761G>A	ENSP00000358210:p.Ser391Leu					SIM1_ENST00000262901.4_Missense_Mutation_p.S391L	p.S391L			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	1954	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	391			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1172C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	35	5.548650	0.96488	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.37915	1.17;1.17	5.6	5.6	0.85130	Single-minded, C-terminal (2);	0.175899	0.52532	D	0.000071	T	0.34164	0.0888	L	0.29908	0.895	0.58432	D	0.999996	D	0.55800	0.973	P	0.55345	0.774	T	0.03576	-1.1023	10	0.42905	T	0.14	.	19.6069	0.95585	0.0:0.0:1.0:0.0	.	391	P81133	SIM1_HUMAN	L	391	ENSP00000358210:S391L;ENSP00000262901:S391L	ENSP00000262901:S391L	S	-	2	0	SIM1	100948482	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.540000	0.82074	2.629000	0.89072	0.655000	0.94253	TCG		0.463	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		3	34	0	0	0	1	0	3	34				
ASMT	438	broad.mit.edu	37	X	1748782	1748782	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chrX:1748782T>G	ENST00000381229.4	+	5	548	c.512T>G	c.(511-513)gTg>gGg	p.V171G	ASMT_ENST00000381241.3_Missense_Mutation_p.V171G|ASMT_ENST00000381233.3_Missense_Mutation_p.V171G|ASMT_ENST00000509780.1_Intron			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	171			V -> M (functional polymorphism that nearly abolishes enzyme activity; dbSNP:rs121918820). {ECO:0000269|PubMed:21251267}.		cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Melatonin(DB01065)	GGGAGAAGCGTGCTGACCGCC	0.552																																						ENST00000381241.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16						c.(511-513)gTg>gGg		acetylserotonin O-methyltransferase							436.0	346.0	377.0					X																	1748782		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1748782T>G	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.512T>G	X.37:g.1748782T>G	ENSP00000370627:p.Val171Gly					RP13-297E16.3_ENST00000509780.1_RNA|ASMT_ENST00000381233.3_Missense_Mutation_p.V171G|ASMT_ENST00000381229.4_Missense_Mutation_p.V171G	p.V171G	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN			5	711	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	171					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.512T>G		.	.	.	.	.	.	.	.	.	.	t	13.51	2.257285	0.39896	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.21031	2.03;2.03;2.03	1.45	1.45	0.22620	.	0.075778	0.52532	U	0.000071	T	0.45276	0.1334	M	0.87827	2.91	0.24451	N	0.994486	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.25984	-1.0116	10	0.87932	D	0	.	7.6772	0.28492	0.0:0.0:0.0:1.0	.	171;171	P46597-2;P46597-3	.;.	G	171	ENSP00000370639:V171G;ENSP00000370627:V171G;ENSP00000370631:V171G	ENSP00000370627:V171G	V	+	2	0	ASMT	1708782	1.000000	0.71417	0.099000	0.21106	0.267000	0.26476	5.089000	0.64492	0.365000	0.24400	0.084000	0.15446	GTG		0.552	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		4	89	0	0	0	1	0	4	89				
MED12L	116931	broad.mit.edu	37	3	151095894	151095894	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr3:151095894G>C	ENST00000474524.1	+	29	4344	c.4306G>C	c.(4306-4308)Gag>Cag	p.E1436Q	MED12L_ENST00000273432.4_Missense_Mutation_p.E1296Q|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1436						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGCTGGGGAAGAGCTGGAGAA	0.537																																						ENST00000474524.1																			0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(4306-4308)Gag>Cag		mediator complex subunit 12-like							75.0	70.0	72.0					3																	151095894		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151095894G>C	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4306G>C	3.37:g.151095894G>C	ENSP00000417235:p.Glu1436Gln					MED12L_ENST00000273432.4_Missense_Mutation_p.E1296Q|P2RY12_ENST00000302632.3_Intron	p.E1436Q	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		29	4344	+			1436					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4306G>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958620	0.92726	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.29142	1.58;1.58	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.52386	0.1731	L	0.51422	1.61	0.80722	D	1	D;D;D	0.69078	0.997;0.996;0.993	D;D;D	0.75484	0.947;0.986;0.979	T	0.52586	-0.8556	10	0.87932	D	0	-29.4479	18.9274	0.92550	0.0:0.0:1.0:0.0	.	1296;1435;1436	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	Q	1436;1296	ENSP00000417235:E1436Q;ENSP00000273432:E1296Q	ENSP00000273432:E1296Q	E	+	1	0	MED12L	152578584	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.044000	0.93805	2.571000	0.86741	0.655000	0.94253	GAG		0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		6	37	0	0	0	1	0	6	37				
XIRP2	129446	broad.mit.edu	37	2	168104430	168104430	+	Silent	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:168104430C>T	ENST00000409195.1	+	9	6617	c.6528C>T	c.(6526-6528)taC>taT	p.Y2176Y	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Y2176Y|XIRP2_ENST00000409273.1_Silent_p.Y1954Y|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2001	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGGAACTTACGACCTTTCAG	0.363																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(6526-6528)taC>taT		xin actin-binding repeat containing 2							41.0	39.0	40.0					2																	168104430		1843	4087	5930	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168104430C>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6528C>T	2.37:g.168104430C>T						XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Silent_p.Y1954Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.Y2176Y|XIRP2_ENST00000409728.1_Intron	p.Y2176Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	6617	+			2001			Pro-rich.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.6528C>T	CCDS42769.1																																																																																				0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		12	48	0	0	0	1	0	12	48				
TBX3	6926	broad.mit.edu	37	12	115118827	115118827	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr12:115118827C>A	ENST00000257566.3	-	2	903	c.514G>T	c.(514-516)Gtg>Ttg	p.V172L	TBX3_ENST00000349155.2_Missense_Mutation_p.V172L	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	172					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)		TTACCAGCCACCATCCACCGA	0.468																																						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.(514-516)Gtg>Ttg		T-box 3							112.0	111.0	112.0					12																	115118827		2203	4300	6503	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.chr12:115118827C>A	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.514G>T	12.37:g.115118827C>A	ENSP00000257566:p.Val172Leu					TBX3_ENST00000257566.3_Missense_Mutation_p.V172L	p.V172L	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	2	1477	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		172					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.514G>T	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	36	5.947926	0.97134	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.89939	-2.59;-2.59	5.81	5.81	0.92471	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95689	0.8598	M	0.89968	3.075	0.80722	D	1	B;D;D	0.69078	0.451;0.997;0.96	P;D;D	0.79784	0.795;0.993;0.958	D	0.95805	0.8836	10	0.66056	D	0.02	.	19.0715	0.93140	0.0:1.0:0.0:0.0	.	172;172;172	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	L	172	ENSP00000257567:V172L;ENSP00000257566:V172L	ENSP00000257566:V172L	V	-	1	0	TBX3	113603210	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.487000	0.81328	2.756000	0.94617	0.655000	0.94253	GTG		0.468	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		14	62	1	0	2.61681e-11	1	2.98195e-11	14	62				
ST6GAL2	84620	broad.mit.edu	37	2	107460268	107460268	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:107460268C>T	ENST00000409382.3	-	2	776	c.166G>A	c.(166-168)Ggg>Agg	p.G56R	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G56R|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G56R|AC016994.2_ENST00000425419.1_RNA	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	56					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCTGCTTCCCCTGCACCGGC	0.672																																						ENST00000409382.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						c.(166-168)Ggg>Agg		ST6 beta-galactosamide alpha-2,6-sialyltranferase 2							15.0	19.0	18.0					2																	107460268		2192	4285	6477	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460268C>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.166G>A	2.37:g.107460268C>T	ENSP00000386942:p.Gly56Arg					ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G56R|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G56R	p.G56R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN			2	776	-			56					D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.166G>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939125	0.92526	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.39229	2.15;2.15;1.09	5.74	5.74	0.90152	.	0.098909	0.64402	D	0.000002	T	0.63873	0.2548	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.62459	-0.6850	10	0.52906	T	0.07	-38.2183	18.8932	0.92413	0.0:1.0:0.0:0.0	.	56;56	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	R	56	ENSP00000355273:G56R;ENSP00000386942:G56R;ENSP00000387332:G56R	ENSP00000355273:G56R	G	-	1	0	ST6GAL2	106826700	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.207000	0.58480	2.701000	0.92244	0.655000	0.94253	GGG		0.672	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		5	19	0	0	0	1	0	5	19				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000567960.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000564451.1_RNA								0	638	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	28	0	0	0	1	0	5	28				
ITPRIP	85450	broad.mit.edu	37	10	106075183	106075183	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr10:106075183G>T	ENST00000337478.1	-	2	798	c.627C>A	c.(625-627)caC>caA	p.H209Q	ITPRIP_ENST00000358187.2_Missense_Mutation_p.H209Q|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000278071.2_Missense_Mutation_p.H209Q	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	209						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCACGAAAAGGTGGCACAGCA	0.647																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(625-627)caC>caA		inositol 1,4,5-trisphosphate receptor interacting protein							66.0	70.0	68.0					10																	106075183		2203	4300	6503	SO:0001583	missense	85450					plasma membrane		g.chr10:106075183G>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.627C>A	10.37:g.106075183G>T	ENSP00000337178:p.His209Gln					ITPRIP_ENST00000337478.1_Missense_Mutation_p.H209Q|ITPRIP_ENST00000358187.2_Missense_Mutation_p.H209Q	p.H209Q	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1079	-			209					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Missense_Mutation	SNP	ENST00000337478.1	37	c.627C>A	CCDS7557.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.682261	0.29872	.	.	ENSG00000148841	ENST00000337478;ENST00000278071;ENST00000358187	T;T;T	0.21191	2.02;2.02;2.02	5.38	2.37	0.29283	.	0.424636	0.28031	N	0.016867	T	0.15782	0.0380	L	0.40543	1.245	0.28168	N	0.928698	B	0.06786	0.001	B	0.04013	0.001	T	0.15009	-1.0452	10	0.72032	D	0.01	-9.9143	6.761	0.23540	0.185:0.3112:0.5039:0.0	.	209	Q8IWB1	IPRI_HUMAN	Q	209	ENSP00000337178:H209Q;ENSP00000278071:H209Q;ENSP00000350915:H209Q	ENSP00000278071:H209Q	H	-	3	2	ITPRIP	106065173	1.000000	0.71417	0.780000	0.31762	0.877000	0.50540	0.739000	0.26173	0.259000	0.21709	0.563000	0.77884	CAC		0.647	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		4	49	1	0	0.00909568	1	0.00928517	4	49				
CIT	11113	broad.mit.edu	37	12	120166306	120166306	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr12:120166306C>T	ENST00000261833.7	-	27	3518		c.e27+1		CIT_ENST00000537607.1_Splice_Site|CIT_ENST00000392521.2_Splice_Site	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase						cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTCACACTCACCTCTTCCAGA	0.438																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.e28+1		citron (rho-interacting, serine/threonine kinase 21)							211.0	218.0	215.0					12																	120166306		2203	4300	6503	SO:0001630	splice_region_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120166306C>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3465+1G>A	12.37:g.120166306C>T						CIT_ENST00000537607.1_Splice_Site|CIT_ENST00000261833.7_Splice_Site		NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	28	3647	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)						Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Splice_Site	SNP	ENST00000261833.7	37		CCDS9192.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039417	0.93630	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000392520	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5949	0.95533	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CIT	118650689	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.570000	0.82390	2.641000	0.89580	0.655000	0.94253	.		0.438	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	Intron	8	244	0	0	0	1	0	8	244				
CCNL2	81669	broad.mit.edu	37	1	1330837	1330837	+	Missense_Mutation	SNP	T	T	C	rs370460090		TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:1330837T>C	ENST00000400809.3	-	4	536	c.531A>G	c.(529-531)atA>atG	p.I177M	CCNL2_ENST00000408918.4_Missense_Mutation_p.I177M|CCNL2_ENST00000408952.5_De_novo_Start_OutOfFrame	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	177	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTTCCGCCTTTATAATTTGGT	0.512																																						ENST00000408952.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13								cyclin L2							121.0	123.0	122.0					1																	1330837		2203	4300	6503	SO:0001583	missense	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1330837T>C	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.531A>G	1.37:g.1330837T>C	ENSP00000383611:p.Ile177Met					CCNL2_ENST00000400809.3_Missense_Mutation_p.I177M|CCNL2_ENST00000408918.4_Missense_Mutation_p.I177M				Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	0	152	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Translation_Start_Site	SNP	ENST00000400809.3	37		CCDS30557.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390972	0.62066	.	.	ENSG00000221978	ENST00000400809;ENST00000408918	T;T	0.11821	2.74;2.74	5.62	1.82	0.25136	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	0.985;1.0;0.997	D;D;D	0.91635	0.93;0.999;0.979	T	0.00666	-1.1619	10	0.35671	T	0.21	.	8.0662	0.30661	0.1329:0.0:0.3678:0.4993	.	177;177;177	F2Z3J5;Q96S94;Q96S94-2	.;CCNL2_HUMAN;.	M	177	ENSP00000383611:I177M;ENSP00000386158:I177M	ENSP00000383611:I177M	I	-	3	3	CCNL2	1320700	1.000000	0.71417	0.984000	0.44739	0.846000	0.48090	0.578000	0.23773	0.052000	0.16007	0.533000	0.62120	ATA		0.512	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		5	46	0	0	0	1	0	5	46				
CEP104	9731	broad.mit.edu	37	1	3745933	3745933	+	Missense_Mutation	SNP	C	C	T	rs140499832		TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:3745933C>T	ENST00000378230.3	-	15	2372	c.2048G>A	c.(2047-2049)cGg>cAg	p.R683Q	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	683						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CGCTTTTCTCCGTGCCTGGTA	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		17536	0.0		0.0	False		,,,				2504	0.001					ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(2047-2049)cGg>cAg		centrosomal protein 104kDa		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	48.0	51.0	50.0		2048	4.2	1.0	1	dbSNP_134	50	1,8599	1.2+/-3.3	0,1,4299	no	missense	CEP104	NM_014704.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	683/926	3745933	2,13004	2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3745933C>T	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2048G>A	1.37:g.3745933C>T	ENSP00000367476:p.Arg683Gln						p.R683Q	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			15	2372	-			683					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.2048G>A	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	7.536	0.659764	0.14645	2.27E-4	1.16E-4	ENSG00000116198	ENST00000378230	T	0.35789	1.29	5.42	4.23	0.50019	.	0.401453	0.26362	N	0.024804	T	0.06826	0.0174	N	0.00057	-2.36	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17258	-1.0375	10	0.07644	T	0.81	.	10.1095	0.42555	0.0:0.0805:0.0:0.9195	.	683	O60308	CE104_HUMAN	Q	683	ENSP00000367476:R683Q	ENSP00000367476:R683Q	R	-	2	0	CEP104	3735793	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	1.471000	0.35365	0.886000	0.36113	-0.423000	0.05987	CGG		0.358	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		10	35	0	0	0	1	0	10	35				
LRIG2	9860	broad.mit.edu	37	1	113636080	113636080	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:113636080G>A	ENST00000361127.5	+	4	607	c.409G>A	c.(409-411)Gca>Aca	p.A137T		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	137					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGAAATAAATGCACAGGCACT	0.388																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(409-411)Gca>Aca		leucine-rich repeats and immunoglobulin-like domains 2							73.0	75.0	75.0					1																	113636080		2203	4300	6503	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113636080G>A	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.409G>A	1.37:g.113636080G>A	ENSP00000355396:p.Ala137Thr						p.A137T	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	4	607	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	137					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.409G>A	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550783	0.45383	.	.	ENSG00000198799	ENST00000361127	T	0.25414	1.8	5.34	4.42	0.53409	.	0.244450	0.41712	D	0.000838	T	0.10465	0.0256	L	0.45744	1.44	0.40720	D	0.982652	B	0.06786	0.001	B	0.09377	0.004	T	0.05599	-1.0875	10	0.25751	T	0.34	.	11.7478	0.51830	0.0:0.1337:0.7274:0.1389	.	137	O94898	LRIG2_HUMAN	T	137	ENSP00000355396:A137T	ENSP00000355396:A137T	A	+	1	0	LRIG2	113437603	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.204000	0.32296	1.240000	0.43803	0.609000	0.83330	GCA		0.388	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		4	68	0	0	0	1	0	4	68				
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412.0	337.0	362.0					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	295	0	0	0	1	0	7	295				
HEXDC	284004	broad.mit.edu	37	17	80395185	80395185	+	Missense_Mutation	SNP	C	C	T	rs530533579		TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr17:80395185C>T	ENST00000327949.9	+	7	856	c.845C>T	c.(844-846)gCg>gTg	p.A282V	HEXDC_ENST00000577944.1_Missense_Mutation_p.A282V|HEXDC_ENST00000337014.6_Missense_Mutation_p.A282V			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	282					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CTGCAGGTGGCGGGCAGCGGG	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		15206	0.0		0.0	False		,,,				2504	0.001					ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(844-846)gCg>gTg		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							39.0	44.0	43.0					17																	80395185		2047	4185	6232	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80395185C>T	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.845C>T	17.37:g.80395185C>T	ENSP00000332634:p.Ala282Val					HEXDC_ENST00000577944.1_Missense_Mutation_p.A282V|HEXDC_ENST00000327949.9_Missense_Mutation_p.A282V	p.A282V	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		8	1319	+	Breast(20;0.00106)|all_neural(118;0.0804)		282					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.845C>T		.	.	.	.	.	.	.	.	.	.	C	10.92	1.486721	0.26686	.	.	ENSG00000169660	ENST00000337014;ENST00000327949	D;D	0.89875	-2.58;-2.58	5.15	4.18	0.49190	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.70595	2.14	0.58432	D	0.999997	D;B;P	0.61697	0.99;0.446;0.744	P;B;B	0.49192	0.602;0.058;0.115	D	0.86604	0.1868	10	0.21540	T	0.41	-27.4296	12.505	0.55975	0.0:0.9191:0.0:0.0809	.	105;282;282	B7Z2X3;Q8WVB3;Q8WVB3-2	.;HEXDC_HUMAN;.	V	282	ENSP00000337854:A282V;ENSP00000332634:A282V	ENSP00000332634:A282V	A	+	2	0	HEXDC	77988474	0.992000	0.36948	0.805000	0.32314	0.060000	0.15804	3.033000	0.49743	1.175000	0.42826	0.561000	0.74099	GCG		0.682	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		3	50	0	0	0	1	0	3	50				
ANO5	203859	broad.mit.edu	37	11	22294405	22294405	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr11:22294405T>C	ENST00000324559.8	+	19	2422	c.2105T>C	c.(2104-2106)aTt>aCt	p.I702T	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	702					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATAAATAATATTGTAGAGATT	0.378																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2104-2106)aTt>aCt		anoctamin 5							128.0	117.0	121.0					11																	22294405		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22294405T>C	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2105T>C	11.37:g.22294405T>C	ENSP00000315371:p.Ile702Thr					ANO5_ENST00000532043.1_3'UTR	p.I702T	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			19	2422	+			702						Missense_Mutation	SNP	ENST00000324559.8	37	c.2105T>C	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	t	25.3	4.624897	0.87560	.	.	ENSG00000171714	ENST00000324559	T	0.68331	-0.32	5.57	5.57	0.84162	.	0.088088	0.85682	D	0.000000	D	0.83691	0.5309	M	0.88105	2.93	0.80722	D	1	P	0.44877	0.845	P	0.61003	0.882	D	0.86288	0.1672	10	0.66056	D	0.02	.	16.0211	0.80493	0.0:0.0:0.0:1.0	.	702	Q75V66	ANO5_HUMAN	T	702	ENSP00000315371:I702T	ENSP00000315371:I702T	I	+	2	0	ANO5	22250981	1.000000	0.71417	0.316000	0.25252	0.993000	0.82548	7.988000	0.88194	2.240000	0.73641	0.529000	0.55759	ATT		0.378	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		15	56	0	0	0	1	0	15	56				
PLXNA4	91584	broad.mit.edu	37	7	132192946	132192946	+	Silent	SNP	G	G	C			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr7:132192946G>C	ENST00000359827.3	-	2	1469	c.507C>G	c.(505-507)gtC>gtG	p.V169V	PLXNA4_ENST00000423507.2_Silent_p.V169V|PLXNA4_ENST00000321063.4_Silent_p.V169V|PLXNA4_ENST00000378539.5_Silent_p.V169V			Q9HCM2	PLXA4_HUMAN	plexin A4	169	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCACTCCAAAGACTGAGCCGC	0.547																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(505-507)gtC>gtG		plexin A4							109.0	98.0	102.0					7																	132192946		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132192946G>C	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.507C>G	7.37:g.132192946G>C						PLXNA4_ENST00000321063.4_Silent_p.V169V|PLXNA4_ENST00000378539.5_Silent_p.V169V|PLXNA4_ENST00000423507.2_Silent_p.V169V	p.V169V			Q9HCM2	PLXA4_HUMAN			2	1469	-			169			Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.507C>G	CCDS43646.1																																																																																				0.547	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		8	38	0	0	0	1	0	8	38				
CAPRIN2	65981	broad.mit.edu	37	12	30904042	30904042	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr12:30904042C>G	ENST00000395805.2	-	2	993	c.446G>C	c.(445-447)cGc>cCc	p.R149P	CAPRIN2_ENST00000251071.5_Missense_Mutation_p.R149P|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R149P|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R149P	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACTTTTCAGGCGATCCTTATA	0.358																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(445-447)cGc>cCc		caprin family member 2							117.0	111.0	113.0					12																	30904042		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30904042C>G	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.446G>C	12.37:g.30904042C>G	ENSP00000379150:p.Arg149Pro					CAPRIN2_ENST00000417045.1_Missense_Mutation_p.R149P|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.R149P|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.R149P|CAPRIN2_ENST00000308433.5_5'UTR	p.R149P	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			2	1196	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		149						Missense_Mutation	SNP	ENST00000395805.2	37	c.446G>C	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325011	0.81580	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045;ENST00000537108;ENST00000542550;ENST00000540436;ENST00000540584	T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	5.22	5.22	0.72569	.	0.054553	0.64402	D	0.000001	T	0.49440	0.1557	L	0.39898	1.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.997;0.999	T	0.50491	-0.8822	10	0.72032	D	0.01	-0.4236	18.7497	0.91809	0.0:1.0:0.0:0.0	.	149;149;149;149	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2	.;.;CAPR2_HUMAN;.	P	149;149;149;149;68;68;68;68	ENSP00000298892:R149P;ENSP00000379150:R149P;ENSP00000251071:R149P;ENSP00000391479:R149P;ENSP00000438010:R68P;ENSP00000443353:R68P;ENSP00000442295:R68P;ENSP00000441005:R68P	ENSP00000251071:R149P	R	-	2	0	CAPRIN2	30795309	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.116000	0.64661	2.425000	0.82216	0.462000	0.41574	CGC		0.358	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		4	79	0	0	0	1	0	4	79				
RP1	6101	broad.mit.edu	37	8	55541829	55541829	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr8:55541829C>T	ENST00000220676.1	+	4	5535	c.5387C>T	c.(5386-5388)aCg>aTg	p.T1796M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1796					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.T1796M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCAGGCCCAACGATGGATGAA	0.448																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			1	Substitution - Missense(1)	p.T1796M(1)	endometrium(1)	NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(5386-5388)aCg>aTg		retinitis pigmentosa 1 (autosomal dominant)							77.0	74.0	75.0					8																	55541829		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541829C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5387C>T	8.37:g.55541829C>T	ENSP00000220676:p.Thr1796Met						p.T1796M	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5535	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1796						Missense_Mutation	SNP	ENST00000220676.1	37	c.5387C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	9.173	1.021724	0.19433	.	.	ENSG00000104237	ENST00000220676	T	0.21191	2.02	5.93	-7.18	0.01505	.	1.642690	0.03391	N	0.201882	T	0.15132	0.0365	L	0.36672	1.1	0.09310	N	1	B	0.31968	0.349	B	0.31191	0.125	T	0.23762	-1.0179	10	0.66056	D	0.02	.	7.0392	0.25010	0.1497:0.3819:0.3642:0.1042	.	1796	P56715	RP1_HUMAN	M	1796	ENSP00000220676:T1796M	ENSP00000220676:T1796M	T	+	2	0	RP1	55704382	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.201000	0.17276	-1.915000	0.01077	-2.053000	0.00404	ACG		0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		10	16	0	0	0	1	0	10	16				
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G	rs370664533	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr20:62839353A>G	ENST00000328439.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000536311.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			2	Substitution - coding silent(2)	p.E268E(2)	prostate(1)|kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(802-804)gaA>gaG		myelin transcription factor 1							19.0	19.0	19.0					20																	62839353		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839353A>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.804A>G	20.37:g.62839353A>G						MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron	p.E268E			Q01538	MYT1_HUMAN			7	1168	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		268			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.804A>G	CCDS13558.1																																																																																				0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	5	0	0	0	1	0	3	5				
RAB6C	84084	broad.mit.edu	37	2	130738444	130738444	+	Silent	SNP	G	G	C			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr2:130738444G>C	ENST00000410061.2	+	1	1210	c.756G>C	c.(754-756)tcG>tcC	p.S252S	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	252					cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					TGCCTGTCTCGTGGAGGTGAT	0.368																																						ENST00000410061.2																			0				large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5						c.(754-756)tcG>tcC		RAB6C, member RAS oncogene family							84.0	85.0	85.0					2																	130738444		2141	4276	6417	SO:0001819	synonymous_variant	84084				protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:130738444G>C	AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.756G>C	2.37:g.130738444G>C							p.S252S	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN			1	1210	+	Colorectal(110;0.1)		252					Q53RU3|Q6FIF7|Q9P128	Silent	SNP	ENST00000410061.2	37	c.756G>C	CCDS46408.1																																																																																				0.368	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	NM_032144		5	81	0	0	0	1	0	5	81				
MAST3	23031	broad.mit.edu	37	19	18255926	18255926	+	Silent	SNP	C	C	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr19:18255926C>T	ENST00000262811.6	+	23	2839	c.2839C>T	c.(2839-2841)Ctg>Ttg	p.L947L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	947							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GTGTGGCAGCCTGCGGCCCCC	0.657																																						ENST00000262811.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						c.(2839-2841)Ctg>Ttg		microtubule associated serine/threonine kinase 3							78.0	86.0	83.0					19																	18255926		2031	4181	6212	SO:0001819	synonymous_variant	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18255926C>T	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.2839C>T	19.37:g.18255926C>T						AC007192.6_ENST00000600364.1_RNA	p.L947L	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN			23	2839	+			947					Q7LDZ8|Q9UPI0	Silent	SNP	ENST00000262811.6	37	c.2839C>T	CCDS46014.1																																																																																				0.657	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2	XM_038150		9	89	0	0	0	1	0	9	89				
CCNL2	81669	broad.mit.edu	37	1	1334009	1334017	+	In_Frame_Del	DEL	AAAAGAACC	AAAAGAACC	-			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:1334009_1334017delAAAAGAACC	ENST00000400809.3	-	2	328_336	c.323_331delGGTTCTTTT	c.(322-333)cggttcttttat>cat	p.108_111RFFY>H	RP4-758J18.2_ENST00000576232.1_5'Flank|CCNL2_ENST00000408918.4_In_Frame_Del_p.108_111RFFY>H|RP4-758J18.2_ENST00000444362.1_5'Flank|CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000448629.2_5'Flank	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	108	Cyclin-like 1.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GACTTGGTATAAAAGAACCGCTGGAACAA	0.488																																						ENST00000400809.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13						c.(322-333)cat>c		cyclin L2																																				SO:0001651	inframe_deletion	81669				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	g.chr1:1334009_1334017delAAAAGAACC	AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.323_331delGGTTCTTTT	1.37:g.1334009_1334017delAAAAGAACC	ENSP00000383611:p.Arg108_Tyr111delinsHis					CCNL2_ENST00000408918.4_In_Frame_Del_p.RFFY108del	p.RFFY108del	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)	2	328_336	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	108			Cyclin-like 1.		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	In_Frame_Del	DEL	ENST00000400809.3	37	c.323_331delGGTTCTTTT	CCDS30557.1																																																																																				0.488	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008146.2	NM_030937		8	44						8	44	---	---	---	---
PRDM16	63976	broad.mit.edu	37	1	3342784	3342784	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:3342784delG	ENST00000270722.5	+	14	3328	c.3279delG	c.(3277-3279)gagfs	p.E1093fs	PRDM16_ENST00000511072.1_Frame_Shift_Del_p.E1094fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Frame_Shift_Del_p.E1092fs|PRDM16_ENST00000378398.3_Frame_Shift_Del_p.E1093fs|PRDM16_ENST00000514189.1_Frame_Shift_Del_p.E1093fs|PRDM16_ENST00000378391.2_Frame_Shift_Del_p.E1093fs|PRDM16_ENST00000442529.2_Frame_Shift_Del_p.E1092fs			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1093	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGCGAACAGAGAAACGGTAAG	0.512			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(3277-3279)gafs		PR domain containing 16							81.0	85.0	84.0					1																	3342784		1945	4146	6091	SO:0001589	frameshift_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3342784delG	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.3279delG	1.37:g.3342784delG	ENSP00000270722:p.Glu1093fs					PRDM16_ENST00000514189.1_Frame_Shift_Del_p.E1093fs|PRDM16_ENST00000511072.1_Frame_Shift_Del_p.E1094fs|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Frame_Shift_Del_p.E1092fs|PRDM16_ENST00000441472.2_Frame_Shift_Del_p.E1092fs|PRDM16_ENST00000378391.2_Frame_Shift_Del_p.E1093fs|PRDM16_ENST00000270722.5_Frame_Shift_Del_p.E1093fs	p.E1093fs			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	15	3361	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	1093			Mediates interaction with SKI and regulation of TGF-beta signaling.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Frame_Shift_Del	DEL	ENST00000270722.5	37	c.3279delG	CCDS41236.2																																																																																				0.512	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		8	42						8	42	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152282031	152282031	+	Frame_Shift_Del	DEL	G	G	-	rs145158439	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr1:152282031delG	ENST00000368799.1	-	3	5366	c.5331delC	c.(5329-5331)tccfs	p.S1777fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1777	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCATGGGCGGACTCAGACT	0.607									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5329-5331)tcfs		filaggrin							205.0	212.0	209.0					1																	152282031		2203	4300	6503	SO:0001589	frameshift_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282031delG	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5331delC	1.37:g.152282031delG	ENSP00000357789:p.Ser1777fs					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S1777fs	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5366	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1777			Ser-rich.		Q01720|Q5T583|Q9UC71	Frame_Shift_Del	DEL	ENST00000368799.1	37	c.5331delC	CCDS30860.1																																																																																				0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		23	202						23	202	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			3	3						3	3	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48941695	48941696	+	Frame_Shift_Ins	INS	-	-	T			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr13:48941695_48941696insT	ENST00000267163.4	+	10	1143_1144	c.1005_1006insT	c.(1006-1008)tttfs	p.F336fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	336					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	ATGCAAGATTATTTTTGGATCA	0.277		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		22	Whole gene deletion(15)|Unknown(7)	p.0?(15)|p.?(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(1003-1008)ttttttfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48941695_48941696insT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1010dupT	13.37:g.48941700_48941700dupT	ENSP00000267163:p.Phe336fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.FF335fs	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	10	1143_1144	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	335					A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	ENST00000267163.4	37	c.1005_1006insT	CCDS31973.1																																																																																				0.277	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			27	90						27	90	---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11354024	11354024	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A9Z8-01A-11D-A41K-08	TCGA-V1-A9Z8-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a82201da-16d7-42b1-860d-3d11fd33f502	9d1b2c85-05c5-4720-bbbc-07aaad25033e	g.chr19:11354024delC	ENST00000294618.7	-	12	1307	c.1296delG	c.(1294-1296)gggfs	p.G432fs		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	432					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGTCCTGGGGCCCCCGACGGC	0.627											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000294618.7																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						c.(1294-1296)ggfs		dedicator of cytokinesis 6							11.0	15.0	14.0					19																	11354024		1875	4085	5960	SO:0001589	frameshift_variant	57572				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr19:11354024delC		CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.1296delG	19.37:g.11354024delC	ENSP00000294618:p.Gly432fs		OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	671		p.G432fs	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN			12	1307	-			432					A6H8X5|Q7Z7P4|Q9P2F2	Frame_Shift_Del	DEL	ENST00000294618.7	37	c.1296delG	CCDS45975.1																																																																																				0.627	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453155.1	NM_020812		2	4						2	4	---	---	---	---
