#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652																																						ENST00000382622.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(91-93)Tcc>Ccc		protein arginine methyltransferase 8							41.0	51.0	47.0					12																	3649787		2199	4299	6498	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3649787T>C	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.91T>C	12.37:g.3649787T>C	ENSP00000372067:p.Ser31Pro		Somatic				PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	p.S31P	NM_019854.4	NP_062828.3	WXS	Illumina GAIIx	Phase_I	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		2	481	+			31					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.91T>C	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834665	0.50951	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.30182	1.65;1.54	5.52	-6.61	0.01818	.	0.606566	0.17318	N	0.178612	T	0.16171	0.0389	L	0.43152	1.355	0.28544	N	0.911948	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09997	-1.0649	10	0.29301	T	0.29	.	3.8844	0.09091	0.1085:0.1587:0.4822:0.2506	.	22;31	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	P	22;31	ENSP00000414507:S22P;ENSP00000372067:S31P	ENSP00000372067:S31P	S	+	1	0	PRMT8	3520048	0.000000	0.05858	0.001000	0.08648	0.946000	0.59487	-0.825000	0.04433	-0.996000	0.03455	0.460000	0.39030	TCC		0.652	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		6	33	0	0	0	1	0	6	33				
RRBP1	6238	broad.mit.edu	37	20	17639295	17639295	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr20:17639295T>C	ENST00000377813.1	-	3	2161	c.1858A>G	c.(1858-1860)Aag>Gag	p.K620E	RRBP1_ENST00000246043.4_Missense_Mutation_p.K620E|RRBP1_ENST00000377807.2_Missense_Mutation_p.K190E|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Missense_Mutation_p.K190E			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	620					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCCTCTTGCTTTGGTGCCTCT	0.473																																						ENST00000377813.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						c.(1858-1860)Aag>Gag		ribosome binding protein 1							152.0	139.0	143.0					20																	17639295		2203	4300	6503	SO:0001583	missense	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17639295T>C	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1858A>G	20.37:g.17639295T>C	ENSP00000367044:p.Lys620Glu		Somatic				RRBP1_ENST00000246043.4_Missense_Mutation_p.K620E|RRBP1_ENST00000377807.2_Missense_Mutation_p.K190E|RRBP1_ENST00000360807.4_Missense_Mutation_p.K190E|RRBP1_ENST00000455029.2_Intron	p.K620E			WXS	Illumina GAIIx	Phase_I	Q9P2E9	RRBP1_HUMAN			3	2161	-			620					A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37	c.1858A>G		.	.	.	.	.	.	.	.	.	.	T	15.22	2.768536	0.49680	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.41	4.29	0.51040	.	0.000000	0.37857	N	0.001901	T	0.31857	0.0810	L	0.46157	1.445	0.80722	D	1	B	0.31435	0.323	B	0.24006	0.05	T	0.07139	-1.0788	10	0.10111	T	0.7	-43.68	6.5132	0.22234	0.0:0.0794:0.1584:0.7622	.	190	Q9P2E9-3	.	E	190;620;190;620	ENSP00000354045:K190E;ENSP00000367044:K620E;ENSP00000367038:K190E;ENSP00000246043:K620E	ENSP00000246043:K620E	K	-	1	0	RRBP1	17587295	0.998000	0.40836	0.993000	0.49108	0.299000	0.27559	3.475000	0.53136	0.984000	0.38629	0.482000	0.46254	AAG		0.473	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		45	67	0	0	0	1	0	45	67				
RYR1	6261	broad.mit.edu	37	19	38979906	38979906	+	Silent	SNP	C	C	T	rs143418190	byFrequency	TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:38979906C>T	ENST00000359596.3	+	35	5637	c.5637C>T	c.(5635-5637)gaC>gaT	p.D1879D	RYR1_ENST00000360985.3_Silent_p.D1879D|RYR1_ENST00000355481.4_Silent_p.D1879D			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1879	6 X approximate repeats.|Glu-rich (acidic).				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	aggaggaggacgaggaggaag	0.498																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5635-5637)gaC>gaT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)	C	,	1,4405	2.1+/-5.4	0,1,2202	91.0	75.0	80.0		5637,5637	-0.6	0.9	19	dbSNP_134	80	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous,coding-synonymous	RYR1	NM_000540.2,NM_001042723.1	,	0,7,6496	TT,TC,CC		0.0698,0.0227,0.0538	,	1879/5039,1879/5034	38979906	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38979906C>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5637C>T	19.37:g.38979906C>T			Somatic				RYR1_ENST00000359596.3_Silent_p.D1879D|RYR1_ENST00000360985.3_Silent_p.D1879D	p.D1879D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina GAIIx	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		35	5768	+	all_cancers(60;7.91e-06)		1879			6 X approximate repeats.|Glu-rich (acidic).		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.5637C>T	CCDS33011.1																																																																																				0.498	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			11	13	0	0	0	1	0	11	13				
PTPN3	5774	broad.mit.edu	37	9	112195403	112195403	+	Silent	SNP	G	G	A	rs377671421		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr9:112195403G>A	ENST00000374541.2	-	10	818	c.714C>T	c.(712-714)tcC>tcT	p.S238S	PTPN3_ENST00000446349.1_Silent_p.S107S|PTPN3_ENST00000412145.1_Silent_p.S107S|PTPN3_ENST00000262539.3_Silent_p.S129S	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	238	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAACACCCGCGGAAGCAATTC	0.393																																						ENST00000412145.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(319-321)tcC>tcT		protein tyrosine phosphatase, non-receptor type 3		G	,,,	0,4406		0,0,2203	134.0	121.0	125.0		714,321,321,714	-12.2	0.1	9		125	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTPN3	NM_001145368.1,NM_001145369.1,NM_001145370.1,NM_002829.3	,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	238/869,107/783,107/738,238/914	112195403	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112195403G>A		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.714C>T	9.37:g.112195403G>A			Somatic				PTPN3_ENST00000262539.3_Silent_p.S129S|PTPN3_ENST00000446349.1_Silent_p.S107S|PTPN3_ENST00000374541.2_Silent_p.S238S	p.S107S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	WXS	Illumina GAIIx	Phase_I	P26045	PTN3_HUMAN			5	2874	-			238			FERM.		A0AUW9|E7EN99|E9PGU7	Silent	SNP	ENST00000374541.2	37	c.321C>T	CCDS6776.1																																																																																				0.393	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			3	62	0	0	0	1	0	3	62				
IL24	11009	broad.mit.edu	37	1	207073691	207073691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr1:207073691C>T	ENST00000294984.2	+	4	566	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	IL24_ENST00000367093.3_Nonsense_Mutation_p.Q99*|IL24_ENST00000391929.3_Nonsense_Mutation_p.Q99*|IL24_ENST00000491169.1_3'UTR	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	98					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					GGAGGTTCTGCAGAACGTCTC	0.552																																						ENST00000367093.3																			0				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(295-297)Cag>Tag		interleukin 24							63.0	60.0	61.0					1																	207073691		2203	4300	6503	SO:0001587	stop_gained	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207073691C>T	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.292C>T	1.37:g.207073691C>T	ENSP00000294984:p.Gln98*		Somatic				IL24_ENST00000294984.2_Nonsense_Mutation_p.Q98*|IL24_ENST00000391929.3_Nonsense_Mutation_p.Q99*|IL24_ENST00000491169.1_3'UTR	p.Q99*	NM_001185157.1|NM_001185158.1	NP_001172086.1|NP_001172087.1	WXS	Illumina GAIIx	Phase_I	Q13007	IL24_HUMAN			4	569	+	Breast(84;0.201)		98					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Nonsense_Mutation	SNP	ENST00000294984.2	37	c.295C>T	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781078	0.70222	.	.	ENSG00000162892	ENST00000391929;ENST00000294984;ENST00000367093	.	.	.	4.3	3.39	0.38822	.	0.873177	0.10153	N	0.709280	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.7465	0.28873	0.0:0.8867:0.0:0.1133	.	.	.	.	X	99;98;99	.	ENSP00000294984:Q98X	Q	+	1	0	IL24	205140314	1.000000	0.71417	0.392000	0.26245	0.088000	0.18126	1.668000	0.37481	1.032000	0.39892	0.561000	0.74099	CAG		0.552	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		23	25	0	0	0	1	0	23	25				
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.2_ENST00000585980.1_RNA|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4				Dom	yes		19	19p13.3	2767	Mis	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""			E			uveal melanoma		82	Substitution - Missense(82)	p.Q209L(80)|p.Q209P(2)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg		guanine nucleotide binding protein (G protein), alpha 11 (Gq class)							104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767				activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	CCDS12103.1	19p13.3	2014-02-04			ENSG00000088256	ENSG00000088256			4379	protein-coding gene	gene with protein product		139313	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	Standard	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	P29992	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		Somatic				AC005262.3_ENST00000587701.1_RNA|GNA11_ENST00000586180.1_3'UTR	p.Q209L	NM_002067.2	NP_002058.2	WXS	Illumina GAIIx	Phase_I	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209					O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	GNA11	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2	NM_002067		21	33	0	0	0	1	0	21	33				
TPCN1	53373	broad.mit.edu	37	12	113664727	113664727	+	Missense_Mutation	SNP	G	G	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr12:113664727G>T	ENST00000335509.6	+	2	384	c.70G>T	c.(70-72)Gct>Tct	p.A24S	TPCN1_ENST00000550785.1_Missense_Mutation_p.A96S|TPCN1_ENST00000541517.1_Missense_Mutation_p.A96S	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	24					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGCCCCACTGGCTCCCTCCAA	0.582																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(286-288)Gct>Tct		two pore segment channel 1							62.0	54.0	57.0					12																	113664727		2203	4300	6503	SO:0001583	missense	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113664727G>T	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.70G>T	12.37:g.113664727G>T	ENSP00000335300:p.Ala24Ser		Somatic				TPCN1_ENST00000541517.1_Missense_Mutation_p.A96S|TPCN1_ENST00000335509.6_Missense_Mutation_p.A24S	p.A96S	NM_001143819.1	NP_001137291.1	WXS	Illumina GAIIx	Phase_I	Q9ULQ1	TPC1_HUMAN			3	455	+			24					A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	ENST00000335509.6	37	c.286G>T	CCDS31908.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065925	0.36470	.	.	ENSG00000186815	ENST00000547275;ENST00000552985;ENST00000550873;ENST00000551096;ENST00000551099;ENST00000335509;ENST00000550785;ENST00000549279;ENST00000541517	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	4.88	0.851	0.18989	.	0.539355	0.17831	N	0.160542	T	0.26340	0.0643	L	0.36672	1.1	0.25357	N	0.988814	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.001	T	0.17349	-1.0372	10	0.22109	T	0.4	4.2607	4.9598	0.14061	0.1893:0.3357:0.475:0.0	.	96;24	Q9ULQ1-3;Q9ULQ1	.;TPC1_HUMAN	S	79;110;24;96;24;24;96;24;96	ENSP00000449560:A79S;ENSP00000447569:A110S;ENSP00000447073:A24S;ENSP00000447263:A96S;ENSP00000335300:A24S;ENSP00000448083:A96S;ENSP00000438125:A96S	ENSP00000335300:A24S	A	+	1	0	TPCN1	112149110	0.977000	0.34250	0.587000	0.28692	0.916000	0.54674	0.804000	0.27098	-0.014000	0.14175	0.462000	0.41574	GCT		0.582	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		8	17	1	0	2.17888e-05	1	2.17888e-05	8	17				
AMICA1	120425	broad.mit.edu	37	11	118071314	118071314	+	Silent	SNP	C	C	T	rs377621403		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr11:118071314C>T	ENST00000356289.5	-	7	959	c.786G>A	c.(784-786)ccG>ccA	p.P262P	AMICA1_ENST00000526620.1_Silent_p.P223P|AMICA1_ENST00000292067.7_Silent_p.P252P|AMICA1_ENST00000533261.1_Silent_p.P251P	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	262					blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCAGGGCTGCCGGGGTCACCA	0.522																																						ENST00000292067.7																			0				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20						c.(754-756)ccG>ccA		adhesion molecule, interacts with CXADR antigen 1		C	,	0,4400		0,0,2200	73.0	75.0	75.0		786,756	-6.4	0.0	11		75	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous,coding-synonymous	AMICA1	NM_001098526.1,NM_153206.2	,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,	262/395,252/385	118071314	1,12991	2200	4296	6496	SO:0001819	synonymous_variant	120425				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane		g.chr11:118071314C>T	AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.786G>A	11.37:g.118071314C>T			Somatic				AMICA1_ENST00000356289.5_Silent_p.P262P|AMICA1_ENST00000533261.1_Silent_p.P251P|AMICA1_ENST00000526620.1_Silent_p.P223P	p.P252P	NM_153206.2	NP_694938.2	WXS	Illumina GAIIx	Phase_I	Q86YT9	JAML1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	6	1197	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	262					B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Silent	SNP	ENST00000356289.5	37	c.756G>A	CCDS41723.1																																																																																				0.522	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206		16	17	0	0	0	1	0	16	17				
ZNF836	162962	broad.mit.edu	37	19	52659256	52659256	+	Silent	SNP	G	G	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:52659256G>C	ENST00000322146.8	-	5	2201	c.1680C>G	c.(1678-1680)ggC>ggG	p.G560G	ZNF836_ENST00000597252.1_Silent_p.G560G|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGAAGACCTTGCCACACACAT	0.383																																						ENST00000322146.8																			0				endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1678-1680)ggC>ggG		zinc finger protein 836							165.0	176.0	172.0					19																	52659256		2052	4237	6289	SO:0001819	synonymous_variant	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52659256G>C	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.1680C>G	19.37:g.52659256G>C			Somatic				ZNF836_ENST00000597252.1_Silent_p.G560G|CTC-471J1.8_ENST00000594362.1_RNA	p.G560G	NM_001102657.1	NP_001096127.1	WXS	Illumina GAIIx	Phase_I	Q6ZNA1	ZN836_HUMAN			5	2201	-			560						Silent	SNP	ENST00000322146.8	37	c.1680C>G	CCDS46162.1																																																																																				0.383	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		54	106	0	0	0	1	0	54	106				
DOPEY1	23033	broad.mit.edu	37	6	83868338	83868338	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr6:83868338C>T	ENST00000349129.2	+	36	7054	c.6794C>T	c.(6793-6795)tCa>tTa	p.S2265L	DOPEY1_ENST00000369739.3_Missense_Mutation_p.S2256L|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2265					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAAGATATTTCACGGTAATAT	0.284																																						ENST00000349129.2																			0				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67						c.(6793-6795)tCa>tTa		dopey family member 1							55.0	56.0	55.0					6																	83868338		2199	4283	6482	SO:0001583	missense	23033				protein transport			g.chr6:83868338C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.6794C>T	6.37:g.83868338C>T	ENSP00000195654:p.Ser2265Leu		Somatic				DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Intron|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S2256L	p.S2265L	NM_015018.3	NP_055833.2	WXS	Illumina GAIIx	Phase_I	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	36	7054	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	2265					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.6794C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.493494	0.64186	.	.	ENSG00000083097	ENST00000349129	T	0.39787	1.06	5.86	5.86	0.93980	.	0.325105	0.33534	N	0.004808	T	0.12347	0.0300	N	0.08118	0	0.80722	D	1	P;P;P	0.49090	0.919;0.666;0.666	B;B;B	0.37550	0.253;0.162;0.162	T	0.08229	-1.0732	10	0.11182	T	0.66	.	20.1735	0.98170	0.0:1.0:0.0:0.0	.	2156;2256;2265	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	L	2265	ENSP00000195654:S2265L	ENSP00000195654:S2265L	S	+	2	0	DOPEY1	83925057	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.330000	0.79181	2.937000	0.99478	0.650000	0.86243	TCA		0.284	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		14	16	0	0	0	1	0	14	16				
FCGRT	2217	broad.mit.edu	37	19	50028774	50028774	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr19:50028774C>T	ENST00000221466.5	+	6	1418	c.932C>T	c.(931-933)aCg>aTg	p.T311M	FCGRT_ENST00000596975.1_Missense_Mutation_p.T219M|FCGRT_ENST00000426395.3_Missense_Mutation_p.T311M|RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000599988.1_Missense_Mutation_p.T45M	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	311					antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTGCTACTCACGGCAGCGGCT	0.612																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(931-933)aCg>aTg		Fc fragment of IgG, receptor, transporter, alpha							81.0	70.0	74.0					19																	50028774		2203	4300	6503	SO:0001583	missense	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50028774C>T	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.932C>T	19.37:g.50028774C>T	ENSP00000221466:p.Thr311Met		Somatic				FCGRT_ENST00000599988.1_Missense_Mutation_p.T45M|FCGRT_ENST00000426395.3_Missense_Mutation_p.T311M|FCGRT_ENST00000596975.1_Missense_Mutation_p.T219M	p.T311M	NM_001136019.2	NP_001129491.1	WXS	Illumina GAIIx	Phase_I	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	6	1418	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	311					Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	c.932C>T	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	C	8.545	0.874235	0.17395	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00711	5.8;5.8	3.93	-2.75	0.05914	.	3.584560	0.00772	N	0.001203	T	0.00666	0.0022	N	0.11064	0.09	0.09310	N	1	B	0.26602	0.154	B	0.11329	0.006	T	0.48768	-0.9006	10	0.87932	D	0	.	9.3362	0.38051	0.0:0.4716:0.0:0.5284	.	311	P55899	FCGRN_HUMAN	M	311	ENSP00000221466:T311M;ENSP00000410798:T311M	ENSP00000221466:T311M	T	+	2	0	FCGRT	54720586	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.019000	0.01442	-0.641000	0.05487	-0.993000	0.02533	ACG		0.612	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			18	35	0	0	0	1	0	18	35				
FOXL1	2300	broad.mit.edu	37	16	86612675	86612675	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr16:86612675C>T	ENST00000320241.3	+	1	561	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	116					heart development (GO:0007507)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|Peyer's patch morphogenesis (GO:0061146)|proteoglycan biosynthetic process (GO:0030166)|regulation of Wnt signaling pathway (GO:0030111)|transcription, DNA-templated (GO:0006351)|visceral mesoderm-endoderm interaction involved in midgut development (GO:0007495)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CGAGAAAGGGCGGCCGGGCAA	0.657																																					NSCLC(163;308 2020 10889 11476 18208)	ENST00000320241.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						c.(346-348)Cgg>Tgg		forkhead box L1							71.0	76.0	74.0					16																	86612675		2198	4300	6498	SO:0001583	missense	2300				brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|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	g.chr16:86612675C>T	AF315075	CCDS10959.1	16q24	2014-07-15			ENSG00000176678	ENSG00000176678		"""Forkhead boxes"""	3817	protein-coding gene	gene with protein product		603252		FKHL11		7957066	Standard	NM_005250		Approved	FREAC7, FKH6	uc002fjr.3	Q12952	OTTHUMG00000137653	ENST00000320241.3:c.346C>T	16.37:g.86612675C>T	ENSP00000326272:p.Arg116Trp		Somatic					p.R116W	NM_005250.2	NP_005241.1	WXS	Illumina GAIIx	Phase_I	Q12952	FOXL1_HUMAN			1	561	+			116					Q17RR1|Q9H242	Missense_Mutation	SNP	ENST00000320241.3	37	c.346C>T	CCDS10959.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159965	0.57368	.	.	ENSG00000176678	ENST00000320241	D	0.95690	-3.78	3.93	2.95	0.34219	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.075221	0.53938	D	0.000045	D	0.97309	0.9120	M	0.85197	2.74	0.46564	D	0.999103	D	0.89917	1.0	D	0.77004	0.989	D	0.96961	0.9701	10	0.87932	D	0	.	10.1866	0.43002	0.3608:0.6392:0.0:0.0	.	116	Q12952	FOXL1_HUMAN	W	116	ENSP00000326272:R116W	ENSP00000326272:R116W	R	+	1	2	FOXL1	85170176	0.010000	0.17322	0.981000	0.43875	0.801000	0.45260	0.248000	0.18198	0.823000	0.34589	0.491000	0.48974	CGG		0.657	FOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269105.2	NM_005250		4	91	0	0	0	1	0	4	91				
TUBBP5	643224	broad.mit.edu	37	9	141070111	141070111	+	RNA	SNP	T	T	C	rs139643347		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr9:141070111T>C	ENST00000503395.1	+	0	1191									tubulin, beta pseudogene 5									p.S75S(1)									CCATGGACTCTGTGCGCTCGG	0.697																																						ENST00000503395.1																			1	Substitution - coding silent(1)	p.S75S(1)	prostate(1)																																																0							g.chr9:141070111T>C	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070111T>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	1191	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.697	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	22	0	0	0	1	0	4	22				
ADAM21	8747	broad.mit.edu	37	14	70925884	70925884	+	Silent	SNP	T	T	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr14:70925884T>C	ENST00000603540.1	+	2	1926	c.1668T>C	c.(1666-1668)tcT>tcC	p.S556S	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.S556S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	556	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTCATATCTCTGATGTCTTTT	0.383																																						ENST00000603540.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(1666-1668)tcT>tcC		ADAM metallopeptidase domain 21							39.0	50.0	46.0					14																	70925884		2187	4290	6477	SO:0001819	synonymous_variant	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70925884T>C	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1668T>C	14.37:g.70925884T>C			Somatic				RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Silent_p.S556S	p.S556S	NM_003813.3	NP_003804.2	WXS	Illumina GAIIx	Phase_I	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1926	+			556			Cys-rich.		O43507|Q2VPC6|Q32MR0	Silent	SNP	ENST00000603540.1	37	c.1668T>C	CCDS9804.1																																																																																				0.383	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			25	26	0	0	0	1	0	25	26				
PPP2R2A	5520	broad.mit.edu	37	8	26212088	26212088	+	Missense_Mutation	SNP	G	G	C			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr8:26212088G>C	ENST00000380737.3	+	4	614	c.285G>C	c.(283-285)aaG>aaC	p.K95N	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K105N	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	95					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAGAAGAAAAGATCAACAAAA	0.368																																						ENST00000380737.3																			0				kidney(1)|large_intestine(2)|ovary(1)	4						c.(283-285)aaG>aaC		protein phosphatase 2, regulatory subunit B, alpha							95.0	94.0	95.0					8																	26212088		2203	4300	6503	SO:0001583	missense	5520							g.chr8:26212088G>C	M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.285G>C	8.37:g.26212088G>C	ENSP00000370113:p.Lys95Asn		Somatic				PPP2R2A_ENST00000315985.7_Missense_Mutation_p.K105N	p.K95N	NM_002717.3	NP_002708.1	WXS	Illumina GAIIx	Phase_I				UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)	4	614	+		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)						B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	ENST00000380737.3	37	c.285G>C	CCDS34867.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248856	0.95305	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.30448	1.53;1.53	5.98	5.98	0.97165	Protein phosphatase 2A, regulatory subunit PR55, conserved site (1);WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.67239	0.2872	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73148	-0.4074	10	0.87932	D	0	-20.2926	20.4434	0.99119	0.0:0.0:1.0:0.0	.	105;95	B4E1T7;P63151	.;2ABA_HUMAN	N	95;105	ENSP00000370113:K95N;ENSP00000325074:K105N	ENSP00000325074:K105N	K	+	3	2	PPP2R2A	26268005	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.218000	0.58554	2.838000	0.97847	0.655000	0.94253	AAG		0.368	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375954.2	NM_002717		26	77	0	0	0	1	0	26	77				
HELZ2	85441	broad.mit.edu	37	20	62193474	62193474	+	Silent	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr20:62193474C>T	ENST00000467148.1	-	10	6549	c.6480G>A	c.(6478-6480)gcG>gcA	p.A2160A	HELZ2_ENST00000427522.2_Silent_p.A1591A	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2160	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CCTCCCTGACCGCCACGTTCT	0.672																																						ENST00000467148.1																			0											c.(6478-6480)gcG>gcA		helicase with zinc finger 2, transcriptional coactivator							16.0	19.0	18.0					20																	62193474		2188	4279	6467	SO:0001819	synonymous_variant	85441							g.chr20:62193474C>T	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6480G>A	20.37:g.62193474C>T			Somatic				HELZ2_ENST00000427522.2_Silent_p.A1591A	p.A2160A	NM_001037335.2	NP_001032412.2	WXS	Illumina GAIIx	Phase_I					10	6549	-								Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	c.6480G>A	CCDS33508.1																																																																																				0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335		5	5	0	0	0	1	0	5	5				
GRM6	2916	broad.mit.edu	37	5	178410055	178410055	+	Silent	SNP	C	C	T			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr5:178410055C>T	ENST00000517717.1	-	10	2330	c.2292G>A	c.(2290-2292)acG>acA	p.T764T	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Silent_p.T764T			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	764					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACACTGTGCACGTGACCATGA	0.627																																						ENST00000231188.5																			0				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55						c.(2290-2292)acG>acA		glutamate receptor, metabotropic 6							129.0	106.0	114.0					5																	178410055		2203	4300	6503	SO:0001819	synonymous_variant	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178410055C>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2292G>A	5.37:g.178410055C>T			Somatic				GRM6_ENST00000517717.1_Silent_p.T764T|RP11-281O15.4_ENST00000519491.1_RNA	p.T764T	NM_000843.3	NP_000834.2	WXS	Illumina GAIIx	Phase_I	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	9	2470	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	764						Silent	SNP	ENST00000517717.1	37	c.2292G>A	CCDS4442.1																																																																																				0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			25	27	0	0	0	1	0	25	27				
PPP1R17	10842	broad.mit.edu	37	7	31732078	31732078	+	Missense_Mutation	SNP	A	A	G	rs371948999		TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr7:31732078A>G	ENST00000342032.3	+	2	651	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	PPP1R17_ENST00000409146.3_Missense_Mutation_p.Q8R	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	8					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										GAGCAAATGCAGCCACTGGAA	0.438																																						ENST00000342032.3																			0											c.(22-24)cAg>cGg		protein phosphatase 1, regulatory subunit 17		A	ARG/GLN,ARG/GLN	0,4406		0,0,2203	118.0	104.0	108.0		23,23	5.0	1.0	7		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	C7orf16	NM_001145123.2,NM_006658.4	43,43	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign,benign	8/105,8/156	31732078	1,13005	2203	4300	6503	SO:0001583	missense	10842				behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction		g.chr7:31732078A>G	AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.23A>G	7.37:g.31732078A>G	ENSP00000340125:p.Gln8Arg		Somatic				PPP1R17_ENST00000409146.3_Missense_Mutation_p.Q8R	p.Q8R	NM_006658.4	NP_006649.2	WXS	Illumina GAIIx	Phase_I	O96001	GSUB_HUMAN			2	651	+			8					B4DE58|Q9UDQ0	Missense_Mutation	SNP	ENST00000342032.3	37	c.23A>G	CCDS5436.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689711	0.48097	0.0	1.16E-4	ENSG00000106341	ENST00000342032;ENST00000409146	T;T	0.35421	1.31;1.34	6.16	5.0	0.66597	.	0.482604	0.21929	N	0.067047	T	0.33789	0.0875	L	0.54323	1.7	0.28909	N	0.892806	P;P	0.46512	0.879;0.879	B;B	0.39258	0.295;0.295	T	0.30387	-0.9980	10	0.54805	T	0.06	-8.7866	12.2987	0.54862	0.7331:0.2669:0.0:0.0	.	8;8	B4DE58;O96001	.;PPR17_HUMAN	R	8	ENSP00000340125:Q8R;ENSP00000386459:Q8R	ENSP00000340125:Q8R	Q	+	2	0	C7orf16	31698603	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.702000	0.47102	1.114000	0.41781	0.528000	0.53228	CAG		0.438	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250498.1	NM_006658		3	59	0	0	0	1	0	3	59				
TAS1R2	80834	broad.mit.edu	37	1	19180971	19180971	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr1:19180971delG	ENST00000375371.3	-	3	1014	c.993delC	c.(991-993)cccfs	p.P331fs	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	331					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGCCCGGGATGGGCACGCTCT	0.667																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(991-993)cccfs		taste receptor, type 1, member 2	Aspartame(DB00168)						63.0	63.0	63.0					1																	19180971		2203	4300	6503	SO:0001589	frameshift_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19180971delG		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.993delC	1.37:g.19180971delG	ENSP00000364520:p.Pro331fs		Somatic				RP13-279N23.2_ENST00000494072.3_3'UTR	p.P331fs	NM_152232.2	NP_689418.2	WXS	Illumina GAIIx	Phase_I	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	1014	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	331					Q5TZ19	Frame_Shift_Del	DEL	ENST00000375371.3	37	c.993delC	CCDS187.1																																																																																				0.667	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			2	4						2	4	---	---	---	---
BAP1	8314	broad.mit.edu	37	3	52437669	52437670	+	Frame_Shift_Ins	INS	-	-	A			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr3:52437669_52437670insA	ENST00000460680.1	-	13	1962_1963	c.1491_1492insT	c.(1489-1494)tctgagfs	p.E498fs	BAP1_ENST00000296288.5_Frame_Shift_Ins_p.E480fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	202					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCCGATCTCAGAGGCCGTGT	0.644			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1				Rec	yes		3	3p21.31-p21.2	8314	"""N, Mis, F, S, O"""	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E		"""mesothelioma, uveal melanoma"""	"""uveal melanoma, breast, NSCLC, RCC"""		0				NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1489-1494)tctgagfs		BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																				SO:0001589	frameshift_variant	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437669_52437670insA	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1492dupT	3.37:g.52437670_52437670dupA	ENSP00000417132:p.Glu498fs		Somatic				BAP1_ENST00000296288.5_Frame_Shift_Ins_p.E480fs	p.E498fs	NM_004656.2	NP_004647.1	WXS	Illumina GAIIx	Phase_I	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	1962_1963	-			498					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Frame_Shift_Ins	INS	ENST00000460680.1	37	c.1491_1492insT	CCDS2853.1																																																																																				0.644	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			11	1						11	1	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15814858	15814860	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr16:15814858_15814860delCTC	ENST00000300036.5	-	33	4736_4738	c.4627_4629delGAG	c.(4627-4629)gagdel	p.E1543del	MYH11_ENST00000576790.2_In_Frame_Del_p.E1543del|MYH11_ENST00000452625.2_In_Frame_Del_p.E1550del|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_In_Frame_Del_p.E1550del	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1543					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCGTCTTCATCTCCTCCATCTGG	0.611			T	CBFB	AML																																	ENST00000452625.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(4648-4650)gagdel		myosin, heavy chain 11, smooth muscle																																				SO:0001651	inframe_deletion	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15814858_15814860delCTC	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4627_4629delGAG	16.37:g.15814861_15814863delCTC	ENSP00000300036:p.Glu1543del		Somatic				NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_In_Frame_Del_p.E1543del|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_In_Frame_Del_p.E1550del|MYH11_ENST00000300036.5_In_Frame_Del_p.E1543del|NDE1_ENST00000396354.1_Intron	p.E1550del	NM_001040113.1	NP_001035202.1	WXS	Illumina GAIIx	Phase_I	P35749	MYH11_HUMAN			34	4735_4737	-			1543					D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	In_Frame_Del	DEL	ENST00000300036.5	37	c.4648_4650delGAG	CCDS10565.1																																																																																				0.611	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		26	65						26	65	---	---	---	---
PAXBP1	94104	broad.mit.edu	37	21	34117154	34117154	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VD-AA8T-01A-11D-A39W-08	TCGA-VD-AA8T-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4facd3ed-b7a2-4bde-ba06-ed91112cb285	3651d5ce-8d9b-4a19-9204-f823bdc396e7	g.chr21:34117154delT	ENST00000331923.4	-	13	2328	c.2139delA	c.(2137-2139)aaafs	p.K713fs	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1_ENST00000290178.4_Frame_Shift_Del_p.K713fs	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	713					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CATTGATTAATTTTAGTGTAA	0.313																																						ENST00000331923.4																			0											c.(2137-2139)aaafs		PAX3 and PAX7 binding protein 1							109.0	121.0	117.0					21																	34117154		2203	4298	6501	SO:0001589	frameshift_variant	94104							g.chr21:34117154delT	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2139delA	21.37:g.34117154delT	ENSP00000328992:p.Lys713fs		Somatic				PAXBP1_ENST00000290178.4_Frame_Shift_Del_p.K713fs	p.K713fs	NM_016631.3	NP_057715.2	WXS	Illumina GAIIx	Phase_I					13	2328	-								D3DSE7|Q96DU8|Q9NYQ0	Frame_Shift_Del	DEL	ENST00000331923.4	37	c.2139delA	CCDS13619.1																																																																																				0.313	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		38	60						38	60	---	---	---	---
