#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
SIRPA	140885	broad.mit.edu	37	20	1895812	1895812	+	Missense_Mutation	SNP	G	G	T			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr20:1895812G>T	ENST00000358771.4	+	2	299	c.147G>T	c.(145-147)gaG>gaT	p.E49D	SIRPA_ENST00000400068.3_Missense_Mutation_p.E49D|SIRPA_ENST00000356025.3_Missense_Mutation_p.E49D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	49	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CAGCTGGAGAGACAGCCACTC	0.552																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(145-147)gaG>gaT		signal-regulatory protein alpha							53.0	48.0	50.0					20																	1895812		2087	3968	6055	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1895812G>T	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.147G>T	20.37:g.1895812G>T	ENSP00000351621:p.Glu49Asp					SIRPA_ENST00000356025.3_Missense_Mutation_p.E49D|SIRPA_ENST00000400068.3_Missense_Mutation_p.E49D	p.E49D	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	2	299	+			49			Ig-like V-type.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.147G>T	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	3.272	-0.148858	0.06627	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02369	4.32;4.32;4.32	5.11	1.97	0.26223	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.547303	0.17609	N	0.168157	T	0.02888	0.0086	L	0.53617	1.68	0.20196	N	0.999924	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.11329	0.006;0.005;0.004	T	0.45469	-0.9259	10	0.22109	T	0.4	.	3.25	0.06811	0.0947:0.1669:0.5517:0.1866	.	29;49;49	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	D	49	ENSP00000382941:E49D;ENSP00000348307:E49D;ENSP00000351621:E49D	ENSP00000348307:E49D	E	+	3	2	SIRPA	1843812	0.032000	0.19561	0.660000	0.29694	0.050000	0.14768	0.045000	0.14013	0.285000	0.22329	0.555000	0.69702	GAG		0.552	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		15	22	1	0	1.3612e-06	1	1.42452e-06	15	22				
MYLK2	85366	broad.mit.edu	37	20	30409489	30409489	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr20:30409489G>A	ENST00000375994.2	+	3	994	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	MYLK2_ENST00000375985.4_Missense_Mutation_p.G241R			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	241					cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			ATCCGAGGTGGGGCAGGCCCT	0.652																																						ENST00000375994.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(721-723)Ggg>Agg		myosin light chain kinase 2							80.0	90.0	87.0					20																	30409489		2203	4300	6503	SO:0001583	missense	85366				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr20:30409489G>A	AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.721G>A	20.37:g.30409489G>A	ENSP00000365162:p.Gly241Arg					MYLK2_ENST00000375985.4_Missense_Mutation_p.G241R	p.G241R			Q9H1R3	MYLK2_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	994	+			241					Q569L1|Q96I84	Missense_Mutation	SNP	ENST00000375994.2	37	c.721G>A	CCDS13191.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.238441	0.79800	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.67698	-0.28;-0.28	4.82	4.82	0.62117	.	.	.	.	.	T	0.61776	0.2374	M	0.63428	1.95	0.37130	D	0.90123	P	0.45902	0.868	B	0.40285	0.325	T	0.65240	-0.6216	9	0.21014	T	0.42	.	13.2661	0.60135	0.0:0.0:1.0:0.0	.	241	Q9H1R3	MYLK2_HUMAN	R	241	ENSP00000365162:G241R;ENSP00000365152:G241R	ENSP00000365152:G241R	G	+	1	0	MYLK2	29873150	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.855000	0.48333	2.516000	0.84829	0.561000	0.74099	GGG		0.652	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118		45	59	0	0	0	1	0	45	59				
SLC45A2	51151	broad.mit.edu	37	5	33944917	33944917	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr5:33944917C>T	ENST00000296589.4	-	7	1575	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	SLC45A2_ENST00000342059.3_Missense_Mutation_p.A418T	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	477			A -> T (in OCA4). {ECO:0000269|PubMed:14722913}.		developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.A477T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GTGAGGGTGGCGCAGTCCATG	0.607																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000296589.4																			1	Substitution - Missense(1)	p.A477T(1)	upper_aerodigestive_tract(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	GRCh37	CM040234	SLC45A2	M		c.(1429-1431)Gcc>Acc		solute carrier family 45, member 2							80.0	54.0	62.0					5																	33944917		2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33944917C>T	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1429G>A	5.37:g.33944917C>T	ENSP00000296589:p.Ala477Thr					SLC45A2_ENST00000342059.3_Missense_Mutation_p.A418T	p.A477T	NM_016180.3	NP_057264.3	Q9UMX9	S45A2_HUMAN			7	1575	-			477		A -> T (in OCA4).			Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1429G>A	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765811	0.96914	.	.	ENSG00000164175	ENST00000296589;ENST00000342059	D;D	0.90504	-2.68;-1.75	5.81	5.81	0.92471	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.96494	0.8856	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96652	0.9482	10	0.87932	D	0	-15.4041	20.0784	0.97758	0.0:1.0:0.0:0.0	.	477	Q9UMX9	S45A2_HUMAN	T	477;418	ENSP00000296589:A477T;ENSP00000341014:A418T	ENSP00000296589:A477T	A	-	1	0	SLC45A2	33980674	1.000000	0.71417	0.852000	0.33557	0.990000	0.78478	7.597000	0.82733	2.736000	0.93811	0.655000	0.94253	GCC		0.607	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		10	10	0	0	0	1	0	10	10				
FCRL3	115352	broad.mit.edu	37	1	157666001	157666001	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr1:157666001A>G	ENST00000368184.3	-	7	1252	c.961T>C	c.(961-963)Tcc>Ccc	p.S321P	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.S321P|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	321	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TTGTGCCAGGAGAATGTGACA	0.522																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(961-963)Tcc>Ccc		Fc receptor-like 3							132.0	121.0	125.0					1																	157666001		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157666001A>G	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.961T>C	1.37:g.157666001A>G	ENSP00000357167:p.Ser321Pro					FCRL3_ENST00000368186.5_Missense_Mutation_p.S321P|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	p.S321P	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			7	1252	-	all_hematologic(112;0.0378)		321			Ig-like C2-type 4.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.961T>C	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	A	19.25	3.790904	0.70452	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.13307	2.6;2.6	5.35	5.35	0.76521	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.151408	0.31123	N	0.008208	T	0.31979	0.0814	M	0.91768	3.24	0.27762	N	0.943806	D;D;D	0.76494	0.999;0.997;0.998	D;D;D	0.75484	0.986;0.986;0.976	T	0.41787	-0.9489	10	0.54805	T	0.06	.	11.729	0.51726	1.0:0.0:0.0:0.0	.	321;226;321	Q96P31;D3DVD1;Q96P31-6	FCRL3_HUMAN;.;.	P	321	ENSP00000357169:S321P;ENSP00000357167:S321P	ENSP00000292392:S321P	S	-	1	0	FCRL3	155932625	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	1.859000	0.39418	2.025000	0.59659	0.533000	0.62120	TCC		0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		33	60	0	0	0	1	0	33	60				
PCDHGC4	56098	broad.mit.edu	37	5	140865402	140865402	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr5:140865402C>T	ENST00000306593.1	+	1	662	c.662C>T	c.(661-663)cCg>cTg	p.P221L	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAACCCGCCGAGATCTGGC	0.602																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(661-663)cCg>cTg									29.0	33.0	32.0					5																	140865402		2203	4300	6503	SO:0001583	missense	0							g.chr5:140865402C>T	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.662C>T	5.37:g.140865402C>T	ENSP00000306918:p.Pro221Leu					PCDHGC3_ENST00000308177.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron	p.P221L	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	662	+								Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	c.662C>T	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.916569	0.33815	.	.	ENSG00000242419	ENST00000306593	T	0.56941	0.43	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58278	0.2111	M	0.64080	1.96	0.09310	N	1	D;P	0.63880	0.993;0.95	P;P	0.52646	0.705;0.541	T	0.50668	-0.8801	9	0.21540	T	0.41	.	11.5769	0.50866	0.0:0.9179:0.0:0.0821	.	221;221	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	L	221	ENSP00000306918:P221L	ENSP00000306918:P221L	P	+	2	0	PCDHGC4	140845586	0.000000	0.05858	0.604000	0.28916	0.990000	0.78478	0.422000	0.21296	2.596000	0.87737	0.561000	0.74099	CCG		0.602	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		11	18	0	0	0	1	0	11	18				
NAA25	80018	broad.mit.edu	37	12	112528660	112528660	+	Silent	SNP	C	C	T			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr12:112528660C>T	ENST00000261745.4	-	3	401	c.153G>A	c.(151-153)aaG>aaA	p.K51K		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	51						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AACCAATTGCCTTTAAAACCT	0.398																																						ENST00000261745.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(151-153)aaG>aaA		N(alpha)-acetyltransferase 25, NatB auxiliary subunit							106.0	103.0	104.0					12																	112528660		2203	4300	6503	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112528660C>T	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.153G>A	12.37:g.112528660C>T							p.K51K	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN			3	401	-			51					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.153G>A	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	C	8.987	0.976863	0.18812	.	.	ENSG00000111300	ENST00000547133	.	.	.	5.49	1.1	0.20463	.	.	.	.	.	T	0.59514	0.2199	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55186	-0.8180	4	.	.	.	-8.5724	11.4746	0.50291	0.0:0.6556:0.0:0.3444	.	.	.	.	S	13	.	.	G	-	1	0	NAA25	111013043	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.997000	0.40786	0.295000	0.22570	0.637000	0.83480	GGC		0.398	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		33	47	0	0	0	1	0	33	47				
SLC25A32	81034	broad.mit.edu	37	8	104413832	104413832	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr8:104413832T>C	ENST00000297578.4	-	6	890	c.724A>G	c.(724-726)Aca>Gca	p.T242A	SLC25A32_ENST00000543107.1_Missense_Mutation_p.T110A|SLC25A32_ENST00000523701.1_5'UTR	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	242					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TATGGGTATGTTGCTGCGACA	0.378																																						ENST00000297578.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9						c.(724-726)Aca>Gca		solute carrier family 25 (mitochondrial folate carrier), member 32	Folic Acid(DB00158)						145.0	134.0	137.0					8																	104413832		2203	4300	6503	SO:0001583	missense	81034				folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity	g.chr8:104413832T>C	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790	ENST00000297578.4:c.724A>G	8.37:g.104413832T>C	ENSP00000297578:p.Thr242Ala					SLC25A32_ENST00000543107.1_Missense_Mutation_p.T110A|SLC25A32_ENST00000523701.1_5'UTR	p.T242A	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		6	890	-			242					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.724A>G	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.844248	0.91197	.	.	ENSG00000164933	ENST00000297578;ENST00000424899;ENST00000543107	D;D	0.81996	-1.56;-1.56	5.72	5.72	0.89469	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90174	0.6929	M	0.76727	2.345	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.89181	0.3544	10	0.33940	T	0.23	-26.6622	15.9912	0.80206	0.0:0.0:0.0:1.0	.	242	Q9H2D1	MFTC_HUMAN	A	242;226;110	ENSP00000297578:T242A;ENSP00000443497:T110A	ENSP00000297578:T242A	T	-	1	0	SLC25A32	104483008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.172000	0.68678	0.533000	0.62120	ACA		0.378	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		21	92	0	0	0	1	0	21	92				
SERPINB10	5273	broad.mit.edu	37	18	61585257	61585257	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr18:61585257A>G	ENST00000238508.3	+	4	352	c.293A>G	c.(292-294)gAa>gGa	p.E98G		NM_005024.1	NP_005015.1	P48595	SPB10_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 10	98					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CTTATCTCAGAAATCCTCAAG	0.348																																						ENST00000238508.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24						c.(292-294)gAa>gGa		serpin peptidase inhibitor, clade B (ovalbumin), member 10							93.0	87.0	89.0					18																	61585257		2202	4300	6502	SO:0001583	missense	5273							g.chr18:61585257A>G	U35459	CCDS11990.1	18q21.3	2014-02-18	2005-08-18		ENSG00000242550	ENSG00000242550		"""Serine (or cysteine) peptidase inhibitors"""	8942	protein-coding gene	gene with protein product	"""protease inhibitor 10 (ovalbumin type, bomapin)"""	602058	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 10"""	PI10		9268635, 10871600, 24172014	Standard	NM_005024		Approved	bomapin		P48595	OTTHUMG00000060594	ENST00000238508.3:c.293A>G	18.37:g.61585257A>G	ENSP00000238508:p.Glu98Gly						p.E98G	NM_005024.1	NP_005015.1					4	352	+		Esophageal squamous(42;0.131)						Q4VAX4|Q4VAX7	Missense_Mutation	SNP	ENST00000238508.3	37	c.293A>G	CCDS11990.1	.	.	.	.	.	.	.	.	.	.	A	17.87	3.494276	0.64186	.	.	ENSG00000242550	ENST00000238508	D	0.84873	-1.91	5.82	5.82	0.92795	Serpin domain (3);	0.112392	0.64402	D	0.000011	D	0.91161	0.7216	M	0.73962	2.25	0.44871	D	0.997889	D	0.63880	0.993	D	0.65323	0.934	D	0.92010	0.5617	10	0.72032	D	0.01	.	14.1425	0.65329	1.0:0.0:0.0:0.0	.	98	P48595	SPB10_HUMAN	G	98	ENSP00000238508:E98G	ENSP00000238508:E98G	E	+	2	0	SERPINB10	59736237	0.993000	0.37304	0.954000	0.39281	0.405000	0.30901	1.494000	0.35616	2.231000	0.72958	0.528000	0.53228	GAA		0.348	SERPINB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134012.3	NM_005024		22	42	0	0	0	1	0	22	42				
RPS2	6187	broad.mit.edu	37	16	2014492	2014492	+	Silent	SNP	G	G	A			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr16:2014492G>A	ENST00000343262.4	-	2	191	c.135C>T	c.(133-135)ggC>ggT	p.G45G	SNHG9_ENST00000459373.1_lincRNA|RNF151_ENST00000569714.1_5'Flank|RPS2_ENST00000526522.1_Silent_p.G45G|RNF151_ENST00000569210.2_5'Flank|RPS2_ENST00000529806.1_Silent_p.G45G|SNORA10_ENST00000384084.1_RNA|RPS2_ENST00000530225.1_Silent_p.G45G|SNORA64_ENST00000384674.1_RNA|RNF151_ENST00000321392.3_5'Flank	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	45	Arg/Gly-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of transferase activity (GO:0051347)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CGCGGCCTCGGCCCCGGCCCC	0.766																																						ENST00000529806.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						c.(133-135)ggC>ggT		ribosomal protein S2							7.0	11.0	9.0					16																	2014492		2032	4069	6101	SO:0001819	synonymous_variant	6187				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome	g.chr16:2014492G>A	AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.135C>T	16.37:g.2014492G>A						RPS2_ENST00000343262.4_Silent_p.G45G|RPS2_ENST00000530225.1_Silent_p.G45G|RPS2_ENST00000526522.1_Silent_p.G45G	p.G45G			P15880	RS2_HUMAN			1	321	-			45					B2R5G0|D3DU82|Q3MIB1	Silent	SNP	ENST00000343262.4	37	c.135C>T	CCDS10452.1																																																																																				0.766	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250613.2	NM_002952		11	7	0	0	0	1	0	11	7				
SMG7	9887	broad.mit.edu	37	1	183486931	183486931	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr1:183486931G>C	ENST00000347615.2	+	4	407	c.288G>C	c.(286-288)gaG>gaC	p.E96D	SMG7_ENST00000508461.1_Missense_Mutation_p.E54D|SMG7_ENST00000367537.3_Missense_Mutation_p.E125D|SMG7_ENST00000515829.2_Missense_Mutation_p.E96D|SMG7_ENST00000456731.2_Missense_Mutation_p.E54D|SMG7_ENST00000507469.1_Missense_Mutation_p.E96D	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	96					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TGTTCCTAGAGGCAGCTAGTG	0.423																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(373-375)gaG>gaC		SMG7 nonsense mediated mRNA decay factor							179.0	168.0	172.0					1																	183486931		2203	4300	6503	SO:0001583	missense	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183486931G>C	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.288G>C	1.37:g.183486931G>C	ENSP00000340766:p.Glu96Asp					SMG7_ENST00000456731.2_Missense_Mutation_p.E54D|SMG7_ENST00000515829.2_Missense_Mutation_p.E96D|SMG7_ENST00000508461.1_Missense_Mutation_p.E54D|SMG7_ENST00000507469.1_Missense_Mutation_p.E96D|SMG7_ENST00000347615.2_Missense_Mutation_p.E96D	p.E125D			Q92540	SMG7_HUMAN			5	570	+			96					B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	c.375G>C	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988394	0.74589	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.43	4.52	0.55395	Telomerase activating protein Est1 (1);	0.116064	0.64402	D	0.000016	T	0.25901	0.0631	L	0.31664	0.95	0.58432	D	0.999992	P;D;D;D;D;P	0.58970	0.95;0.966;0.966;0.957;0.984;0.815	P;P;D;P;D;P	0.64506	0.826;0.885;0.926;0.817;0.923;0.838	T	0.01405	-1.1363	10	0.45353	T	0.12	-13.5588	10.9811	0.47494	0.1486:0.0:0.8514:0.0	.	54;125;54;96;96;96	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	D	54;125;54;54;96;96;96	ENSP00000407629:E54D;ENSP00000356507:E125D;ENSP00000426915:E54D;ENSP00000388390:E54D;ENSP00000340766:E96D;ENSP00000425133:E96D;ENSP00000421358:E96D	ENSP00000340766:E96D	E	+	3	2	SMG7	181753554	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.415000	0.59809	1.274000	0.44362	0.655000	0.94253	GAG		0.423	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		36	52	0	0	0	1	0	36	52				
CACNG5	27091	broad.mit.edu	37	17	64876773	64876773	+	Missense_Mutation	SNP	C	C	T	rs149159754		TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr17:64876773C>T	ENST00000533854.1	+	4	620	c.383C>T	c.(382-384)aCg>aTg	p.T128M	CACNG5_ENST00000307139.3_Missense_Mutation_p.T128M|CACNG5_ENST00000169565.3_Missense_Mutation_p.T128M			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	128					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCCCACCGGACGATACTGGCC	0.448																																						ENST00000533854.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24						c.(382-384)aCg>aTg		calcium channel, voltage-dependent, gamma subunit 5		C	MET/THR	0,4406		0,0,2203	269.0	227.0	241.0		383	3.7	0.9	17	dbSNP_134	241	7,8593	5.7+/-21.5	0,7,4293	no	missense	CACNG5	NM_145811.2	81	0,7,6496	TT,TC,CC		0.0814,0.0,0.0538	probably-damaging	128/276	64876773	7,12999	2203	4300	6503	SO:0001583	missense	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64876773C>T	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.383C>T	17.37:g.64876773C>T	ENSP00000436836:p.Thr128Met					CACNG5_ENST00000169565.3_Missense_Mutation_p.T128M|CACNG5_ENST00000307139.3_Missense_Mutation_p.T128M	p.T128M			Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		4	620	+			128					A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.383C>T	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.549512	0.65311	0.0	8.14E-4	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.88896	-2.44;-2.44;-2.44	3.67	3.67	0.42095	.	0.067062	0.64402	D	0.000016	D	0.91147	0.7212	L	0.61036	1.89	0.58432	D	0.999996	D	0.65815	0.995	P	0.56823	0.807	D	0.90145	0.4216	10	0.32370	T	0.25	-1.0987	15.2223	0.73320	0.0:1.0:0.0:0.0	.	128	Q9UF02	CCG5_HUMAN	M	128	ENSP00000436836:T128M;ENSP00000303092:T128M;ENSP00000169565:T128M	ENSP00000169565:T128M	T	+	2	0	CACNG5	62307235	1.000000	0.71417	0.912000	0.35992	0.924000	0.55760	7.394000	0.79862	1.966000	0.57179	0.591000	0.81541	ACG		0.448	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		5	158	0	0	0	1	0	5	158				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(301-303)Agt>Ggt																																						SO:0001583	missense	0							g.chr20:29628299A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G	p.S101G							6	681	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.301A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	57	0	0	0	1	0	3	57				
PLEKHA7	144100	broad.mit.edu	37	11	16816175	16816175	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr11:16816175G>C	ENST00000355661.3	-	19	2615	c.2605C>G	c.(2605-2607)Ccc>Gcc	p.P869A	PLEKHA7_ENST00000332954.4_5'Flank|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P869A|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P869A			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	869	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGGCTGGTGGGAGGACTGGGC	0.602																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(2605-2607)Ccc>Gcc		pleckstrin homology domain containing, family A member 7							60.0	67.0	65.0					11																	16816175		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16816175G>C	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2605C>G	11.37:g.16816175G>C	ENSP00000347883:p.Pro869Ala					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P869A|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P869A	p.P869A			Q6IQ23	PKHA7_HUMAN			19	2615	-			869			Pro-rich.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.2605C>G	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987735	0.53934	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.19250	2.16;2.16;2.16	5.6	5.6	0.85130	.	0.237483	0.42682	D	0.000668	T	0.16981	0.0408	L	0.44542	1.39	0.34114	D	0.663314	B;B;P;P	0.43662	0.4;0.065;0.78;0.814	B;B;B;B	0.38985	0.078;0.018;0.192;0.287	T	0.08700	-1.0709	10	0.09843	T	0.71	-19.1957	13.2315	0.59947	0.0729:0.0:0.9271:0.0	.	443;869;869;869	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.;.;PKHA7_HUMAN;.	A	869	ENSP00000435389:P869A;ENSP00000347883:P869A;ENSP00000416895:P869A	ENSP00000347883:P869A	P	-	1	0	PLEKHA7	16772751	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.825000	0.69286	2.806000	0.96561	0.655000	0.94253	CCC		0.602	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		3	82	0	0	0	1	0	3	82				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	75	0	0	0	1	0	9	75				
TAGAP	117289	broad.mit.edu	37	6	159457441	159457441	+	Silent	SNP	G	G	A			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr6:159457441G>A	ENST00000367066.3	-	10	1945	c.1614C>T	c.(1612-1614)caC>caT	p.H538H	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Silent_p.H360H|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	538					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCCTCGGGACGTGGTCCCTGG	0.547																																						ENST00000367066.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23						c.(1612-1614)caC>caT		T-cell activation RhoGTPase activating protein							52.0	56.0	55.0					6																	159457441		2203	4300	6503	SO:0001819	synonymous_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457441G>A	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1614C>T	6.37:g.159457441G>A						RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Silent_p.H360H|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	p.H538H	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	1945	-		Breast(66;0.000776)|Ovarian(120;0.0303)	538					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	c.1614C>T	CCDS5261.1																																																																																				0.547	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		5	62	0	0	0	1	0	5	62				
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	lincRNA	SNP	C	C	A	rs199554501	byFrequency	TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr3:195395402C>A	ENST00000445430.1	+	0	809									long intergenic non-protein coding RNA 969																		TACGGGCGCACCTACTTGAGC	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195395402C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395402C>A														0	809	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	26	1	0	4.3838e-07	1	4.69693e-07	7	26				
UTP20	27340	broad.mit.edu	37	12	101773277	101773277	+	Missense_Mutation	SNP	A	A	G			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr12:101773277A>G	ENST00000261637.4	+	57	7699	c.7525A>G	c.(7525-7527)Aaa>Gaa	p.K2509E		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2509					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAAAAGACCAAAAAACACCT	0.453																																						ENST00000261637.4																			0				NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(7525-7527)Aaa>Gaa		UTP20, small subunit (SSU) processome component, homolog (yeast)							115.0	111.0	112.0					12																	101773277		2203	4300	6503	SO:0001583	missense	27340				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	g.chr12:101773277A>G	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7525A>G	12.37:g.101773277A>G	ENSP00000261637:p.Lys2509Glu						p.K2509E	NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN			57	7699	+			2509					Q9H3H4	Missense_Mutation	SNP	ENST00000261637.4	37	c.7525A>G	CCDS9081.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.686672	0.00738	.	.	ENSG00000120800	ENST00000261637	T	0.18174	2.23	6.04	2.31	0.28768	.	0.385420	0.32703	N	0.005754	T	0.08802	0.0218	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40720	-0.9548	10	0.02654	T	1	-12.5918	5.3662	0.16115	0.5487:0.2533:0.198:0.0	.	2509	O75691	UTP20_HUMAN	E	2509	ENSP00000261637:K2509E	ENSP00000261637:K2509E	K	+	1	0	UTP20	100297408	0.982000	0.34865	0.100000	0.21137	0.217000	0.24651	2.385000	0.44371	0.513000	0.28278	0.523000	0.50628	AAA		0.453	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408242.1	NM_014503		25	42	0	0	0	1	0	25	42				
MZT2B	80097	broad.mit.edu	37	2	130948170	130948170	+	Missense_Mutation	SNP	G	G	C			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr2:130948170G>C	ENST00000281871.6	+	3	803	c.448G>C	c.(448-450)Ggg>Cgg	p.G150R	MZT2B_ENST00000409255.1_Missense_Mutation_p.G210R	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	150						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						GGGCGGGCCTGGGAAGAGCCC	0.612																																						ENST00000281871.6																			0				lung(1)	1						c.(448-450)Ggg>Cgg		mitotic spindle organizing protein 2B							37.0	43.0	41.0					2																	130948170		2188	4289	6477	SO:0001583	missense	80097					centrosome|gamma-tubulin ring complex|spindle	protein binding	g.chr2:130948170G>C	BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"""	613450	"""family with sequence similarity 128, member B"""	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.448G>C	2.37:g.130948170G>C	ENSP00000281871:p.Gly150Arg					MZT2B_ENST00000409255.1_Missense_Mutation_p.G210R	p.G150R	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN			3	803	+			150					Q96CG4	Missense_Mutation	SNP	ENST00000281871.6	37	c.448G>C	CCDS2157.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	15.21|15.21	2.767279|2.767279	0.49574|0.49574	.|.	.|.	ENSG00000152082|ENSG00000152082	ENST00000457492;ENST00000281871;ENST00000409255|ENST00000455239	T;T;T|.	0.69685|.	0.01;-0.1;-0.42|.	3.59|3.59	3.59|3.59	0.41128|0.41128	.|.	0.278138|.	0.33199|.	N|.	0.005165|.	T|T	0.58736|0.58736	0.2143|0.2143	M|M	0.61703|0.61703	1.905|1.905	0.44061|0.44061	D|D	0.996806|0.996806	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.53725|0.53725	-0.8398|-0.8398	10|6	0.87932|0.07813	D|T	0|0.8	-23.2371|-23.2371	13.0628|13.0628	0.59015|0.59015	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	150|.	Q6NZ67|.	MZT2B_HUMAN|.	R|S	113;150;210|90	ENSP00000387805:G113R;ENSP00000281871:G150R;ENSP00000386419:G210R|.	ENSP00000281871:G150R|ENSP00000404629:W90S	G|W	+|+	1|2	0|0	MZT2B|MZT2B	130664640|130664640	1.000000|1.000000	0.71417|0.71417	0.730000|0.730000	0.30809|0.30809	0.363000|0.363000	0.29612|0.29612	5.841000|5.841000	0.69409|0.69409	2.006000|2.006000	0.58801|0.58801	0.455000|0.455000	0.32223|0.32223	GGG|TGG		0.612	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254518.1	NM_025029		34	9	0	0	0	1	0	34	9				
SMARCA2	6595	broad.mit.edu	37	9	2115841	2115841	+	Missense_Mutation	SNP	G	G	A	rs281875187		TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr9:2115841G>A	ENST00000382203.1	+	25	3685	c.3476G>A	c.(3475-3477)cGa>cAa	p.R1159Q	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1159Q|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1159Q|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1159Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1159	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.		R -> G (in NCBRS; dbSNP:rs281875184). {ECO:0000269|PubMed:22366787}.|R -> L (in NCBRS; dbSNP:rs281875187). {ECO:0000269|PubMed:22366787}.|R -> Q (in NCBRS; dbSNP:rs281875187). {ECO:0000269|PubMed:22366787}.		aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCCCAAGACCGAGCTCACCGC	0.577																																						ENST00000382203.1																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3475-3477)cGa>cAa		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2							29.0	28.0	28.0					9																	2115841		2203	4300	6503	SO:0001583	missense	6595				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding	g.chr9:2115841G>A	D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3476G>A	9.37:g.2115841G>A	ENSP00000371638:p.Arg1159Gln					SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1159Q|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1159Q|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1159Q	p.R1159Q			P51531	SMCA2_HUMAN		GBM - Glioblastoma multiforme(50;0.0475)	25	3685	+		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)	1159			Helicase C-terminal.		B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	c.3476G>A	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743012	0.89663	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.99143	-5.48;-5.48;-5.48;-5.48	5.67	5.67	0.87782	Helicase, C-terminal (3);	0.000000	0.64402	D	0.000001	D	0.99750	0.9900	H	0.99884	4.89	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.87578	0.998;0.986;0.992	D	0.96738	0.9544	10	0.87932	D	0	-14.6554	19.7699	0.96359	0.0:0.0:1.0:0.0	.	760;1159;1159	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	Q	1159	ENSP00000265773:R1159Q;ENSP00000349788:R1159Q;ENSP00000371638:R1159Q;ENSP00000371629:R1159Q	ENSP00000265773:R1159Q	R	+	2	0	SMARCA2	2105841	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.869000	0.99810	2.680000	0.91292	0.563000	0.77884	CGA		0.577	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070		10	14	0	0	0	1	0	10	14				
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G	rs372894655	byFrequency	TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532			T	MLL	ALL								A|||	612	0.122204	0.1505	0.1066	5008	,	,		12422	0.0833		0.0716	False		,,,				2504	0.1871					ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		19	Substitution - coding silent(19)	p.S167S(19)	lung(8)|kidney(5)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(499-501)agT>agC		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414343		1537	3257	4794	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414343A>G	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.501T>C	9.37:g.20414343A>G						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	p.S167S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	787	-			167			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.501T>C	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	50	0	0	0	1	0	3	50				
CNR2	1269	broad.mit.edu	37	1	24201287	24201287	+	Missense_Mutation	SNP	C	C	G			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr1:24201287C>G	ENST00000374472.4	-	2	982	c.821G>C	c.(820-822)aGt>aCt	p.S274T	CNR2_ENST00000536471.1_Missense_Mutation_p.S274T	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	274					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	GACCTGGTCACTGAGCGTAGT	0.572																																						ENST00000536471.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(820-822)aGt>aCt		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						83.0	71.0	75.0					1																	24201287		2203	4300	6503	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201287C>G	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.821G>C	1.37:g.24201287C>G	ENSP00000363596:p.Ser274Thr					CNR2_ENST00000374472.4_Missense_Mutation_p.S274T	p.S274T			P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	3	1079	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	274					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.821G>C	CCDS245.1	.	.	.	.	.	.	.	.	.	.	C	5.689	0.311773	0.10789	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.72725	-0.68;-0.68	5.5	2.26	0.28386	GPCR, rhodopsin-like superfamily (1);	0.353029	0.34879	N	0.003608	T	0.49236	0.1545	N	0.17278	0.47	0.23320	N	0.997918	B	0.13145	0.007	B	0.15052	0.012	T	0.32798	-0.9893	10	0.33141	T	0.24	.	7.1635	0.25677	0.0:0.5084:0.0:0.4916	.	274	P34972	CNR2_HUMAN	T	274	ENSP00000363596:S274T;ENSP00000442830:S274T	ENSP00000363596:S274T	S	-	2	0	CNR2	24073874	0.015000	0.18098	0.033000	0.17914	0.647000	0.38526	0.240000	0.18042	0.694000	0.31654	0.557000	0.71058	AGT		0.572	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		15	18	0	0	0	1	0	15	18				
SLC16A4	9122	broad.mit.edu	37	1	110924399	110924399	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr1:110924399A>C	ENST00000369779.4	-	4	488	c.239T>G	c.(238-240)aTt>aGt	p.I80S	SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000437429.2_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.I18S|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000369781.4_Missense_Mutation_p.I80S|SLC16A4_ENST00000472422.2_Intron	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	80					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TATGTCACAAATAATAGCAAC	0.408																																						ENST00000369779.4																			0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(238-240)aTt>aGt		solute carrier family 16, member 4	Pyruvic acid(DB00119)						100.0	94.0	96.0					1																	110924399		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110924399A>C	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.239T>G	1.37:g.110924399A>C	ENSP00000358794:p.Ile80Ser					SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000369781.4_Missense_Mutation_p.I80S|SLC16A4_ENST00000437429.2_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.I18S|SLC16A4_ENST00000472422.2_Intron	p.I80S	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	4	488	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	80					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.239T>G	CCDS823.1	.	.	.	.	.	.	.	.	.	.	A	12.04	1.817396	0.32145	.	.	ENSG00000168679	ENST00000369779;ENST00000369781;ENST00000541986	T;T;T	0.59224	0.28;0.28;0.28	5.2	-1.74	0.08056	Major facilitator superfamily domain, general substrate transporter (1);	0.825765	0.11655	N	0.542462	T	0.50531	0.1621	M	0.71581	2.175	0.09310	N	1	P;P;B;B	0.37594	0.601;0.552;0.14;0.43	B;P;B;B	0.49192	0.259;0.602;0.351;0.186	T	0.59096	-0.7518	10	0.87932	D	0	.	11.6484	0.51273	0.4552:0.0:0.5448:0.0	.	18;80;80;80	B4DJ67;Q53FH9;Q8WU09;O15374	.;.;.;MOT5_HUMAN	S	80;80;18	ENSP00000358794:I80S;ENSP00000358796:I80S;ENSP00000446087:I18S	ENSP00000358794:I80S	I	-	2	0	SLC16A4	110725922	0.135000	0.22499	0.000000	0.03702	0.104000	0.19210	1.468000	0.35332	-0.242000	0.09667	-0.899000	0.02877	ATT		0.408	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		19	22	0	0	0	1	0	19	22				
APOB	338	broad.mit.edu	37	2	21234067	21234067	+	Silent	SNP	A	A	G			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr2:21234067A>G	ENST00000233242.1	-	26	5800	c.5673T>C	c.(5671-5673)caT>caC	p.H1891H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1891					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTGCTGAAATGCAGTGAGT	0.488																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(5671-5673)caT>caC		apolipoprotein B	Atorvastatin(DB01076)						118.0	111.0	114.0					2																	21234067		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234067A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5673T>C	2.37:g.21234067A>G							p.H1891H	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	5800	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1891					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.5673T>C	CCDS1703.1																																																																																				0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			5	90	0	0	0	1	0	5	90				
MLX	6945	broad.mit.edu	37	17	40723602	40723602	+	Missense_Mutation	SNP	T	T	G			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr17:40723602T>G	ENST00000246912.4	+	8	931	c.878T>G	c.(877-879)tTg>tGg	p.L293W	MLX_ENST00000346833.4_Missense_Mutation_p.L209W|MLX_ENST00000435881.2_Missense_Mutation_p.L239W	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	293					energy reserve metabolic process (GO:0006112)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|positive regulation of cellular metabolic process (GO:0031325)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CTGCACCAATTGAAAAACCAG	0.532																																					GBM(121;657 1601 4665 24731 34640)	ENST00000246912.4																			0				kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10						c.(877-879)tTg>tGg		MLX, MAX dimerization protein							185.0	176.0	179.0					17																	40723602		2203	4300	6503	SO:0001583	missense	6945				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr17:40723602T>G	AF213668	CCDS11430.1, CCDS42341.1, CCDS45687.1	17q21.1	2013-05-21	2012-11-15	2005-02-11		ENSG00000108788		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	11645	protein-coding gene	gene with protein product		602976	"""transcription factor-like 4"", ""MAX-like protein X"""	TCFL4		8973301	Standard	NM_170607		Approved	MAD7, MXD7, bHLHd13	uc002iag.3	Q9UH92		ENST00000246912.4:c.878T>G	17.37:g.40723602T>G	ENSP00000246912:p.Leu293Trp					MLX_ENST00000346833.4_Missense_Mutation_p.L209W|MLX_ENST00000435881.2_Missense_Mutation_p.L239W	p.L293W	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	8	931	+		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)	293					A8K2J3|B2RAV8|B2RD73|Q53XM6|Q96FL2|Q9H2V0|Q9H2V1|Q9H2V2|Q9NXN3	Missense_Mutation	SNP	ENST00000246912.4	37	c.878T>G	CCDS11430.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.750342	0.89753	.	.	ENSG00000108788	ENST00000346833;ENST00000246912;ENST00000435881	D;D;D	0.85484	-1.71;-1.99;-1.67	5.15	5.15	0.70609	.	0.229453	0.36778	N	0.002419	D	0.90559	0.7041	M	0.64997	1.995	0.58432	D	0.99999	D;D;D	0.67145	0.994;0.996;0.996	D;D;D	0.69307	0.924;0.944;0.963	D	0.91645	0.5330	10	0.87932	D	0	-9.2426	15.1342	0.72549	0.0:0.0:0.0:1.0	.	209;293;239	Q9UH92-2;Q9UH92;Q9UH92-3	.;MLX_HUMAN;.	W	209;293;239	ENSP00000320913:L209W;ENSP00000246912:L293W;ENSP00000416627:L239W	ENSP00000246912:L293W	L	+	2	0	MLX	37977128	1.000000	0.71417	0.918000	0.36340	0.989000	0.77384	7.003000	0.76310	2.169000	0.68431	0.460000	0.39030	TTG		0.532	MLX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450415.1	NM_170607		18	120	0	0	0	1	0	18	120				
ASAP1	50807	broad.mit.edu	37	8	131073151	131073151	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr8:131073151G>A	ENST00000518721.1	-	28	3093	c.2866C>T	c.(2866-2868)Ccg>Tcg	p.P956S	ASAP1_ENST00000357668.1_Missense_Mutation_p.P956S	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	956	Pro-rich.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.P956S(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGCTTAGGCGGCAAATCTCCA	0.572																																						ENST00000357668.1																			1	Substitution - Missense(1)	p.P956S(1)	lung(1)	breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2866-2868)Ccg>Tcg		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							83.0	101.0	95.0					8																	131073151		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131073151G>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2866C>T	8.37:g.131073151G>A	ENSP00000429900:p.Pro956Ser					ASAP1_ENST00000518721.1_Missense_Mutation_p.P956S	p.P956S			Q9ULH1	ASAP1_HUMAN			27	2893	-			956			Pro-rich.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2866C>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.13|19.13	3.768398|3.768398	0.69878|0.69878	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.09255	.|3.0;3.0	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.520502	.|0.21834	.|N	.|0.068434	T|T	0.33527|0.33527	0.0866|0.0866	M|M	0.67397|0.67397	2.05|2.05	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.996;0.996;0.998	T|T	0.02378|0.02378	-1.1168|-1.1168	5|10	.|0.62326	.|D	.|0.03	.|.	17.8071|17.8071	0.88605|0.88605	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|956;956;959	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	V|S	776;312|959;956;956	.|ENSP00000350297:P956S;ENSP00000429900:P956S	.|ENSP00000344591:P959S	A|P	-|-	2|1	0|0	ASAP1|ASAP1	131142333|131142333	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.763000|0.763000	0.43281|0.43281	7.517000|7.517000	0.81783|0.81783	2.436000|2.436000	0.82500|0.82500	0.655000|0.655000	0.94253|0.94253	GCC|CCG		0.572	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		4	180	0	0	0	1	0	4	180				
SPEG	10290	broad.mit.edu	37	2	220309783	220309783	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr2:220309783G>A	ENST00000312358.7	+	3	847	c.715G>A	c.(715-717)Gtg>Atg	p.V239M	SPEG_ENST00000396698.1_Missense_Mutation_p.V135M|SPEG_ENST00000396695.2_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	239					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCTAATCTGGTGGGCGCAAG	0.682																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(715-717)Gtg>Atg		SPEG complex locus							16.0	20.0	18.0					2																	220309783		2052	4180	6232	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220309783G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.715G>A	2.37:g.220309783G>A	ENSP00000311684:p.Val239Met					SPEG_ENST00000396698.1_Missense_Mutation_p.V135M|SPEG_ENST00000396695.2_Intron	p.V239M	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	3	847	+		Renal(207;0.0183)	239					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.715G>A	CCDS42824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.73|10.73	1.433951|1.433951	0.25813|0.25813	.|.	.|.	ENSG00000072195|ENSG00000072195	ENST00000451076|ENST00000312358;ENST00000265327;ENST00000396698	.|T;T	.|0.66099	.|-0.19;0.08	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.33712	.|U	.|0.004630	T|T	0.50274|0.50274	0.1606|0.1606	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D	.|0.54772	.|0.968	.|P	.|0.50860	.|0.652	T|T	0.52373|0.52373	-0.8584|-0.8584	5|10	.|0.48119	.|T	.|0.1	.|.	7.9183|7.9183	0.29831|0.29831	0.0866:0.1629:0.7504:0.0|0.0866:0.1629:0.7504:0.0	.|.	.|239	.|Q15772	.|SPEG_HUMAN	D|M	89|239;239;135	.|ENSP00000311684:V239M;ENSP00000379926:V135M	.|ENSP00000265327:V239M	G|V	+|+	2|1	0|0	SPEG|SPEG	220018027|220018027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.957000|3.957000	0.56730|0.56730	2.084000|2.084000	0.62774|0.62774	0.442000|0.442000	0.29010|0.29010	GGT|GTG		0.682	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		4	1	0	0	0	1	0	4	1				
SLC26A4	5172	broad.mit.edu	37	7	107314687	107314687	+	Missense_Mutation	SNP	G	G	A			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr7:107314687G>A	ENST00000265715.3	+	5	718	c.494G>A	c.(493-495)aGc>aAc	p.S165N		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	165					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTCGTATCCAGCAGCAATGGA	0.463									Pendred syndrome																													ENST00000265715.3																			0				central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						c.(493-495)aGc>aAc		solute carrier family 26 (anion exchanger), member 4							139.0	130.0	133.0					7																	107314687		2203	4300	6503	SO:0001583	missense	5172	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	g.chr7:107314687G>A	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.494G>A	7.37:g.107314687G>A	ENSP00000265715:p.Ser165Asn						p.S165N	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN			5	718	+			165					B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	c.494G>A	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	7.311	0.614907	0.14129	.	.	ENSG00000091137	ENST00000265715	D	0.93488	-3.23	4.91	1.84	0.25277	.	0.212121	0.40469	N	0.001083	D	0.83041	0.5168	N	0.20328	0.56	0.20821	N	0.999848	B	0.06786	0.001	B	0.04013	0.001	T	0.65861	-0.6065	10	0.11794	T	0.64	.	5.709	0.17925	0.0766:0.1392:0.6402:0.144	.	165	O43511	S26A4_HUMAN	N	165	ENSP00000265715:S165N	ENSP00000265715:S165N	S	+	2	0	SLC26A4	107101923	0.349000	0.24870	0.229000	0.23960	0.035000	0.12851	1.355000	0.34068	0.461000	0.27071	0.655000	0.94253	AGC		0.463	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441		41	36	0	0	0	1	0	41	36				
FHOD3	80206	broad.mit.edu	37	18	34081915	34081915	+	Missense_Mutation	SNP	G	G	A	rs371092594		TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr18:34081915G>A	ENST00000359247.4	+	4	358	c.358G>A	c.(358-360)Gga>Aga	p.G120R	FHOD3_ENST00000257209.4_Missense_Mutation_p.G120R|FHOD3_ENST00000590592.1_Missense_Mutation_p.G120R|FHOD3_ENST00000445677.1_Missense_Mutation_p.G120R	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	120	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CAACTCCAGCGGACGAGATTT	0.323																																						ENST00000257209.4																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(358-360)Gga>Aga		formin homology 2 domain containing 3		G	ARG/GLY	0,4406		0,0,2203	28.0	28.0	28.0		358	5.4	1.0	18		28	1,8599		0,1,4299	no	missense	FHOD3	NM_025135.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	120/1440	34081915	1,13005	2203	4300	6503	SO:0001583	missense	80206				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:34081915G>A	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.358G>A	18.37:g.34081915G>A	ENSP00000352186:p.Gly120Arg					FHOD3_ENST00000590592.1_Missense_Mutation_p.G120R|FHOD3_ENST00000445677.1_Missense_Mutation_p.G120R|FHOD3_ENST00000359247.4_Missense_Mutation_p.G120R	p.G120R	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			4	480	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	120			GBD/FH3.		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	ENST00000359247.4	37	c.358G>A		.	.	.	.	.	.	.	.	.	.	G	19.14	3.769874	0.69992	0.0	1.16E-4	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.25250	1.81;1.81;1.81	5.45	5.45	0.79879	GTPase-binding/formin homology 3 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.118293	0.56097	D	0.000026	T	0.56093	0.1962	M	0.82823	2.61	0.41244	D	0.986663	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.91635	0.997;0.999;0.904	T	0.61491	-0.7052	10	0.87932	D	0	.	17.1316	0.86728	0.0:0.0:1.0:0.0	.	120;120;120	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	R	120	ENSP00000257209:G120R;ENSP00000352186:G120R;ENSP00000411430:G120R	ENSP00000257209:G120R	G	+	1	0	FHOD3	32335913	1.000000	0.71417	0.995000	0.50966	0.556000	0.35491	7.980000	0.88113	2.713000	0.92767	0.655000	0.94253	GGA		0.323	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114		14	23	0	0	0	1	0	14	23				
OR5A1	219982	broad.mit.edu	37	11	59211157	59211157	+	Silent	SNP	C	C	T	rs150991894	byFrequency	TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr11:59211157C>T	ENST00000302030.2	+	1	541	c.516C>T	c.(514-516)tgC>tgT	p.C172C		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C172C(2)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTCACTTTTGCGGACCCAACA	0.547																																						ENST00000302030.2																			2	Substitution - coding silent(2)	p.C172C(2)	prostate(1)|endometrium(1)	central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(514-516)tgC>tgT		olfactory receptor, family 5, subfamily A, member 1		C		0,4402		0,0,2201	261.0	254.0	256.0		516	-5.9	0.4	11	dbSNP_134	256	3,8587	3.0+/-9.4	0,3,4292	no	coding-synonymous	OR5A1	NM_001004728.1		0,3,6493	TT,TC,CC		0.0349,0.0,0.0231		172/316	59211157	3,12989	2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211157C>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.516C>T	11.37:g.59211157C>T							p.C172C	NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN			1	541	+			172					B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.516C>T	CCDS31561.1																																																																																				0.547	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		5	233	0	0	0	1	0	5	233				
SERPINI2	5276	broad.mit.edu	37	3	167170724	167170724	+	Splice_Site	SNP	C	C	A			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr3:167170724C>A	ENST00000476257.1	-	7	1262	c.964G>T	c.(964-966)Gat>Tat	p.D322Y	SERPINI2_ENST00000264677.4_Splice_Site_p.D322Y|SERPINI2_ENST00000471111.1_Splice_Site_p.D322Y|SERPINI2_ENST00000461846.1_Splice_Site_p.D322Y			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	322					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATCATACTACCTGTTATTCCA	0.318																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.e7+1		serpin peptidase inhibitor, clade I (pancpin), member 2							50.0	50.0	50.0					3																	167170724		2203	4294	6497	SO:0001630	splice_region_variant	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167170724C>A	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.964+1G>T	3.37:g.167170724C>A						SERPINI2_ENST00000264677.4_Splice_Site_p.D322_splice|SERPINI2_ENST00000461846.1_Splice_Site_p.D322_splice|SERPINI2_ENST00000471111.1_Splice_Site_p.D322_splice	p.D322_splice			O75830	SPI2_HUMAN			7	1262	-			322						Splice_Site	SNP	ENST00000476257.1	37	c.964_splice	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275542	0.40294	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.48	4.61	0.57282	Serpin domain (3);	0.163888	0.52532	D	0.000070	D	0.86585	0.5968	M	0.88377	2.95	0.41149	D	0.986014	D;D	0.71674	0.998;0.998	D;D	0.66847	0.947;0.947	D	0.88588	0.3141	9	.	.	.	.	12.3554	0.55171	0.0:0.9179:0.0:0.0821	.	322;322	B4DDY9;O75830	.;SPI2_HUMAN	Y	322	ENSP00000420621:D322Y;ENSP00000417692:D322Y;ENSP00000264677:D322Y;ENSP00000419407:D322Y	.	D	-	1	0	SERPINI2	168653418	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	4.440000	0.59975	1.450000	0.47717	-0.251000	0.11542	GAT		0.318	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217	Missense_Mutation	25	71	1	0	1.64293e-13	1	1.80322e-13	25	71				
CDH12	1010	broad.mit.edu	37	5	21752061	21752061	+	Missense_Mutation	SNP	T	T	C			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr5:21752061T>C	ENST00000382254.1	-	15	3256	c.2170A>G	c.(2170-2172)Aat>Gat	p.N724D	CDH12_ENST00000522262.1_Missense_Mutation_p.N684D|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.N724D|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	724					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCACATCATTTTCCTGTAGC	0.483										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2170-2172)Aat>Gat		cadherin 12, type 2 (N-cadherin 2)							259.0	221.0	234.0					5																	21752061		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21752061T>C	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2170A>G	5.37:g.21752061T>C	ENSP00000371689:p.Asn724Asp	HNSCC(59;0.17)				CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.N684D|CDH12_ENST00000504376.2_Missense_Mutation_p.N724D|RP11-804N13.1_ENST00000522350.1_RNA	p.N724D	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN			15	3256	-			724					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2170A>G	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	T	12.53	1.965849	0.34659	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.76839	-1.05;-1.05;-1.05	5.12	3.93	0.45458	Cadherin, cytoplasmic domain (1);	0.216287	0.49305	D	0.000142	T	0.74435	0.3716	M	0.74258	2.255	0.40173	D	0.977204	B;P	0.37914	0.01;0.611	B;B	0.34138	0.071;0.176	T	0.74225	-0.3734	10	0.51188	T	0.08	.	10.9727	0.47448	0.0:0.0:0.2998:0.7001	.	684;724	B7Z2U6;P55289	.;CAD12_HUMAN	D	724;724;684	ENSP00000423577:N724D;ENSP00000371689:N724D;ENSP00000428786:N684D	ENSP00000371689:N724D	N	-	1	0	CDH12	21787818	1.000000	0.71417	0.930000	0.37139	0.906000	0.53458	2.774000	0.47694	0.780000	0.33566	0.383000	0.25322	AAT		0.483	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		19	38	0	0	0	1	0	19	38				
ARID1A	8289	broad.mit.edu	37	1	27087548	27087548	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr1:27087548C>T	ENST00000324856.7	+	5	2493	c.2122C>T	c.(2122-2124)Cag>Tag	p.Q708*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q325*|RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q708*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	708					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q708*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGTGTTGCTCAGTCTCGCTC	0.592			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Nonsense(1)	p.Q708*(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(2122-2124)Cag>Tag		AT rich interactive domain 1A (SWI-like)							64.0	60.0	61.0					1																	27087548		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27087548C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2122C>T	1.37:g.27087548C>T	ENSP00000320485:p.Gln708*					ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q708*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q325*	p.Q708*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	5	2493	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	708					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.2122C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	38	6.956006	0.97960	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	.	.	.	5.77	5.77	0.91146	.	0.250823	0.39210	N	0.001433	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-6.6633	19.9915	0.97366	0.0:1.0:0.0:0.0	.	.	.	.	X	708;708;325	.	ENSP00000320485:Q708X	Q	+	1	0	ARID1A	26960135	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.335000	0.59298	2.723000	0.93209	0.655000	0.94253	CAG		0.592	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		4	37	0	0	0	1	0	4	37				
GADL1	339896	broad.mit.edu	37	3	30885877	30885877	+	Splice_Site	SNP	A	A	G			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr3:30885877A>G	ENST00000282538.5	-	7	882		c.e7+1		GADL1_ENST00000454381.3_Splice_Site	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1						carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						TGTTCCCATTACCTTCCATCT	0.393																																						ENST00000454381.3																			0				breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						c.e7+1		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						186.0	189.0	188.0					3																	30885877		2203	4300	6503	SO:0001630	splice_region_variant	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30885877A>G	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.731+1T>C	3.37:g.30885877A>G						GADL1_ENST00000282538.5_Splice_Site				Q6ZQY3	GADL1_HUMAN			7	778	-									Splice_Site	SNP	ENST00000282538.5	37		CCDS2649.2	.	.	.	.	.	.	.	.	.	.	A	22.1	4.247115	0.80024	.	.	ENSG00000144644	ENST00000282538;ENST00000454381	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4323	0.83853	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GADL1	30860881	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.669000	0.91163	2.281000	0.76405	0.528000	0.53228	.		0.393	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359	Intron	53	65	0	0	0	1	0	53	65				
CCR2	729230	broad.mit.edu	37	3	46399066	46399066	+	Missense_Mutation	SNP	C	C	A	rs372092396		TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr3:46399066C>A	ENST00000400888.2	+	1	87	c.48C>A	c.(46-48)agC>agA	p.S16R	CCR2_ENST00000292301.4_Missense_Mutation_p.S16R|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.S16R			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	16					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		CCAACGAGAGCGGTGAAGAAG	0.463																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(46-48)agC>agA		chemokine (C-C motif) receptor 2							201.0	175.0	183.0					3																	46399066		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399066C>A		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.48C>A	3.37:g.46399066C>A	ENSP00000383681:p.Ser16Arg					CCR2_ENST00000465202.1_Intron|CCR2_ENST00000400888.2_Missense_Mutation_p.S16R|CCR2_ENST00000445132.2_Missense_Mutation_p.S16R	p.S16R	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	533	+			16					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.48C>A	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.465101	0.26335	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	T;T;T;T	0.69175	-0.38;-0.36;1.28;-0.36	4.77	-6.29	0.02013	.	.	.	.	.	T	0.39627	0.1085	N	0.19112	0.55	0.09310	N	1	B;B	0.28208	0.203;0.151	B;B	0.25614	0.044;0.062	T	0.24404	-1.0161	9	0.19590	T	0.45	.	4.2396	0.10642	0.1043:0.2494:0.1033:0.5431	.	16;16	P41597;Q4VBL2	CCR2_HUMAN;.	R	16	ENSP00000399285:S16R;ENSP00000292301:S16R;ENSP00000396736:S16R;ENSP00000383681:S16R	ENSP00000292301:S16R	S	+	3	2	CCR2	46374070	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	1.942000	0.40243	-1.001000	0.03434	-0.143000	0.13931	AGC		0.463	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		81	116	1	0	2.35497e-27	1	2.64934e-27	81	116				
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	lincRNA	SNP	G	G	A	rs62287990	byFrequency	TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr3:195395399G>A	ENST00000445430.1	+	0	806									long intergenic non-protein coding RNA 969																		GGCTACGGGCGCACCTACTTG	0.607																																						ENST00000445430.1																			0																																																			0							g.chr3:195395399G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395399G>A														0	806	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.607	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	26	0	0	0	1	0	7	26				
SF3B1	23451	broad.mit.edu	37	2	198266834	198266834	+	Missense_Mutation	SNP	T	T	C	rs559063155		TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr2:198266834T>C	ENST00000335508.6	-	15	2189	c.2098A>G	c.(2098-2100)Aaa>Gaa	p.K700E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'UTR	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	700					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K700E(179)|p.Q699_K700del(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCGAACTTTCTGCTGCTCA	0.408			Mis		myelodysplastic syndrome								T|||	1	0.000199681	0.0	0.0	5008	,	,		17946	0.0		0.0	False		,,,				2504	0.001					ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		181	Substitution - Missense(179)|Deletion - In frame(2)	p.K700E(179)|p.Q699_K700del(2)	haematopoietic_and_lymphoid_tissue(153)|NS(20)|breast(5)|pancreas(2)|central_nervous_system(1)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(2098-2100)Aaa>Gaa		splicing factor 3b, subunit 1, 155kDa																																				SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198266834T>C	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2098A>G	2.37:g.198266834T>C	ENSP00000335321:p.Lys700Glu					SF3B1_ENST00000462613.1_5'UTR	p.K700E	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		15	2189	-			700					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.2098A>G	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	33	5.243295	0.95272	.	.	ENSG00000115524	ENST00000335508	T	0.63580	-0.05	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89820	0.3988	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	700	O75533	SF3B1_HUMAN	E	700	ENSP00000335321:K700E	ENSP00000335321:K700E	K	-	1	0	SF3B1	197975079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.304000	0.77564	0.528000	0.53228	AAA		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			23	24	0	0	0	1	0	23	24				
CALB2	794	broad.mit.edu	37	16	71411574	71411574	+	Missense_Mutation	SNP	C	C	T			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr16:71411574C>T	ENST00000302628.4	+	4	343	c.266C>T	c.(265-267)gCg>gTg	p.A89V	CALB2_ENST00000349553.5_Missense_Mutation_p.A89V	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	89	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				TCACAGCTGGCGCAGATCCTG	0.557																																						ENST00000302628.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(265-267)gCg>gTg		calbindin 2							100.0	90.0	93.0					16																	71411574		2198	4300	6498	SO:0001583	missense	794						calcium ion binding	g.chr16:71411574C>T	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.266C>T	16.37:g.71411574C>T	ENSP00000307508:p.Ala89Val					CALB2_ENST00000349553.5_Missense_Mutation_p.A89V	p.A89V	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN			4	343	+		Ovarian(137;0.125)	89			EF-hand 2.		A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	c.266C>T	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460107	0.84317	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	T;T	0.65364	-0.15;-0.15	5.48	5.48	0.80851	EF-hand-like domain (1);	0.144262	0.64402	D	0.000007	T	0.55433	0.1920	L	0.42744	1.35	0.80722	D	1	P;P	0.45768	0.866;0.661	B;B	0.38880	0.284;0.195	T	0.59547	-0.7434	10	0.46703	T	0.11	-6.7839	17.2874	0.87146	0.0:1.0:0.0:0.0	.	89;89	A6NER6;P22676	.;CALB2_HUMAN	V	89	ENSP00000340294:A89V;ENSP00000307508:A89V	ENSP00000307508:A89V	A	+	2	0	CALB2	69969075	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	5.163000	0.64948	2.754000	0.94517	0.603000	0.83216	GCG		0.557	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		6	41	0	0	0	1	0	6	41				
TECRL	253017	broad.mit.edu	37	4	65175614	65175614	+	Missense_Mutation	SNP	C	C	A			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr4:65175614C>A	ENST00000381210.3	-	6	697	c.587G>T	c.(586-588)cGa>cTa	p.R196L	TECRL_ENST00000507440.1_Missense_Mutation_p.R196L|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	196					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.R196P(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAAAAGGTATCGGATGTAGTG	0.343																																						ENST00000381210.3																			1	Substitution - Missense(1)	p.R196P(1)	lung(1)	endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						c.(586-588)cGa>cTa		trans-2,3-enoyl-CoA reductase-like							96.0	101.0	100.0					4																	65175614		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65175614C>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.587G>T	4.37:g.65175614C>A	ENSP00000370607:p.Arg196Leu					TECRL_ENST00000507440.1_Missense_Mutation_p.R196L|TECRL_ENST00000513125.1_5'UTR	p.R196L	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN			6	697	-			196						Missense_Mutation	SNP	ENST00000381210.3	37	c.587G>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889977	0.72524	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.50548	0.74;0.74	5.11	5.11	0.69529	.	0.068040	0.56097	D	0.000026	T	0.67748	0.2926	M	0.72118	2.19	0.32172	N	0.581451	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.75736	-0.3213	10	0.87932	D	0	-13.5394	15.2611	0.73625	0.0:1.0:0.0:0.0	.	196;196	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	L	196	ENSP00000426043:R196L;ENSP00000370607:R196L	ENSP00000370607:R196L	R	-	2	0	TECRL	64858209	0.998000	0.40836	0.992000	0.48379	0.911000	0.54048	4.095000	0.57728	2.370000	0.80446	0.555000	0.69702	CGA		0.343	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		5	78	1	0	0.00198382	1	0.0020289	5	78				
LCMT2	9836	broad.mit.edu	37	15	43622404	43622404	+	Missense_Mutation	SNP	A	A	C			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr15:43622404A>C	ENST00000305641.5	-	1	399	c.284T>G	c.(283-285)cTc>cGc	p.L95R	ADAL_ENST00000428046.3_5'Flank|ADAL_ENST00000389651.4_5'Flank|LCMT2_ENST00000567039.1_Intron|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	95					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCGAAAATAGAGCGAGTCGAA	0.642																																						ENST00000305641.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(283-285)cTc>cGc		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						17.0	22.0	20.0					15																	43622404		2155	4237	6392	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43622404A>C	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.284T>G	15.37:g.43622404A>C	ENSP00000307214:p.Leu95Arg					LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	p.L95R	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	399	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	95					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.284T>G	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	A	12.32	1.901348	0.33535	.	.	ENSG00000168806	ENST00000305641	T	0.14766	2.48	5.55	5.55	0.83447	.	0.174753	0.37809	N	0.001925	T	0.10766	0.0263	N	0.17872	0.535	0.58432	D	0.999991	P	0.44195	0.828	B	0.43194	0.411	T	0.29243	-1.0018	10	0.17832	T	0.49	-16.5671	13.6954	0.62575	1.0:0.0:0.0:0.0	.	95	O60294	LCMT2_HUMAN	R	95	ENSP00000307214:L95R	ENSP00000307214:L95R	L	-	2	0	LCMT2	41409696	0.941000	0.31946	0.755000	0.31263	0.003000	0.03518	5.605000	0.67634	2.333000	0.79357	0.533000	0.62120	CTC		0.642	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		16	29	0	0	0	1	0	16	29				
SCLT1	132320	broad.mit.edu	37	4	129924994	129924995	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr4:129924994_129924995insT	ENST00000281142.5	-	6	830_831	c.327_328insA	c.(325-330)aaattgfs	p.L110fs	SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.L87fs|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.L110fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	110					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAGGCCTCCAATTTTTTTTCAA	0.381																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(325-330)aatggafs		sodium channel and clathrin linker 1																																				SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129924994_129924995insT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.328dupA	4.37:g.129925002_129925002dupT	ENSP00000281142:p.Leu110fs					SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.NG109fs|SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.NG86fs|SCLT1_ENST00000439369.2_Intron	p.NG109fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			6	830_831	-			109					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Ins	INS	ENST00000281142.5	37	c.327_328insA	CCDS3740.1																																																																																				0.381	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		7	88						7	88	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46287432	46287435	+	Frame_Shift_Del	DEL	TAAC	TAAC	-			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr12:46287432_46287435delTAAC	ENST00000334344.6	+	20	5463_5466	c.5291_5294delTAAC	c.(5290-5295)ataactfs	p.IT1764fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Del_p.IT372fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.IT1615fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.IT1374fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1764					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GAGGGACCAATAACTAAACACATC	0.333			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(5290-5295)atfs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46287432_46287435delTAAC		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.5291_5294delTAAC	12.37:g.46287432_46287435delTAAC	ENSP00000335044:p.Ile1764fs					ARID2_ENST00000422737.1_Frame_Shift_Del_p.IT1615fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Del_p.IT372fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.IT1374fs	p.IT1764fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	20	5463_5466	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1764					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.5291_5294delTAAC	CCDS31783.1																																																																																				0.333	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		50	68						50	68	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061223	38061228	+	In_Frame_Del	DEL	TCTCGA	TCTCGA	-			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr14:38061223_38061228delTCTCGA	ENST00000250448.2	-	2	822_827	c.761_766delTCGAGA	c.(760-768)ttcgagaac>tac	p.254_256FEN>Y	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.221_223FEN>Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TAGCAGCCGTTCTCGAACATGTTGCC	0.689																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(760-768)tac>t		forkhead box A1																																				SO:0001651	inframe_deletion	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061223_38061228delTCTCGA	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.761_766delTCGAGA	14.37:g.38061223_38061228delTCTCGA	ENSP00000250448:p.Phe254_Asn256delinsTyr					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.FEN221del	p.FEN254del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	822_827	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		254					B2R9H6|B7ZAP5|Q9H2A0	In_Frame_Del	DEL	ENST00000250448.2	37	c.761_766delTCGAGA	CCDS9665.1																																																																																				0.689	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			11	12						11	12	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72831173	72831189	+	Frame_Shift_Del	DEL	GGGATGTAGAAAGGGAA	GGGATGTAGAAAGGGAA	-			TCGA-2A-A8VX-01A-11D-A377-08	TCGA-2A-A8VX-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	957baedd-a3e5-4cc3-84bc-d96a98047c96	53b1cab7-43d1-4643-ac22-c93696c913ee	g.chr16:72831173_72831189delGGGATGTAGAAAGGGAA	ENST00000268489.5	-	9	6064_6080	c.5392_5408delTTCCCTTTCTACATCCC	c.(5392-5409)ttccctttctacatccccfs	p.FPFYIP1798fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.FPFYIP884fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1798					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|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)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCAGCACTGGGGATGTAGAAAGGGAAGAGGAGGTGC	0.576																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(5392-5409)cfs		zinc finger homeobox 3																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72831173_72831189delGGGATGTAGAAAGGGAA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5392_5408delTTCCCTTTCTACATCCC	16.37:g.72831173_72831189delGGGATGTAGAAAGGGAA	ENSP00000268489:p.Phe1798fs					ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.FPFYIP884fs	p.FPFYIP1798fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	6064_6080	-		Ovarian(137;0.13)	1798					D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.5392_5408delTTCCCTTTCTACATCCC	CCDS10908.1																																																																																				0.576	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		20	37						20	37	---	---	---	---
