#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
C11orf65	160140	broad.mit.edu	37	11	108332225	108332225	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr11:108332225T>C	ENST00000529391.1	-	1	71	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	C11orf65_ENST00000525729.1_Missense_Mutation_p.Q21R|C11orf65_ENST00000393084.1_Missense_Mutation_p.Q21R			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	21										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		TTTCCAGGCCTGCTGAATGAC	0.299																																						ENST00000525729.1																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10						c.(61-63)cAg>cGg		chromosome 11 open reading frame 65							76.0	85.0	82.0					11																	108332225		2201	4298	6499	SO:0001583	missense	160140							g.chr11:108332225T>C	BC059411	CCDS8340.1	11q22.3	2012-05-30			ENSG00000166323	ENSG00000166323			28519	protein-coding gene	gene with protein product						12477932	Standard	NM_152587		Approved	MGC33948	uc001pkh.3	Q8NCR3	OTTHUMG00000166489	ENST00000529391.1:c.62A>G	11.37:g.108332225T>C	ENSP00000436400:p.Gln21Arg					C11orf65_ENST00000529391.1_Missense_Mutation_p.Q21R|C11orf65_ENST00000393084.1_Missense_Mutation_p.Q21R	p.Q21R			Q8NCR3	CK065_HUMAN		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)	2	131	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	21					B4DZU4|Q6PCA8	Missense_Mutation	SNP	ENST00000529391.1	37	c.62A>G	CCDS8340.1	.	.	.	.	.	.	.	.	.	.	T	0.184	-1.059069	0.01950	.	.	ENSG00000166323	ENST00000525729;ENST00000529391;ENST00000393084;ENST00000533583	T;T;T	0.30448	1.53;1.53;1.53	4.36	-2.0	0.07433	.	0.887861	0.09449	N	0.800756	T	0.08268	0.0206	N	0.01188	-0.97	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37267	-0.9713	10	0.02654	T	1	0.3024	8.7176	0.34421	0.0:0.4457:0.0:0.5543	.	21;21	B4DZU4;Q8NCR3	.;CK065_HUMAN	R	21	ENSP00000436400:Q21R;ENSP00000376799:Q21R;ENSP00000434500:Q21R	ENSP00000376799:Q21R	Q	-	2	0	C11orf65	107837435	0.699000	0.27786	0.294000	0.24946	0.994000	0.84299	0.250000	0.18235	-0.366000	0.08064	0.528000	0.53228	CAG		0.299	C11orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390010.3	NM_152587		3	79	0	0	0	1	0	3	79				
PGBD2	267002	broad.mit.edu	37	1	249211398	249211398	+	Silent	SNP	C	C	A	rs377474764		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:249211398C>A	ENST00000329291.5	+	3	762	c.615C>A	c.(613-615)ccC>ccA	p.P205P	PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000539153.1_Silent_p.P202P	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	205								p.P205P(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAACCTCTCCCGATTCACATC	0.398																																						ENST00000539153.1																			1	Substitution - coding silent(1)	p.P205P(1)	lung(1)	NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14						c.(604-606)ccC>ccA		piggyBac transposable element derived 2							137.0	140.0	139.0					1																	249211398		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr1:249211398C>A	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.615C>A	1.37:g.249211398C>A						PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000329291.5_Silent_p.P205P	p.P202P			Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		4	861	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	205					B3KVR8|Q6MZF8	Silent	SNP	ENST00000329291.5	37	c.606C>A	CCDS31128.1																																																																																				0.398	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			4	203	1	0	0.150653	1	0.165233	4	203				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000355232.3_Splice_Site_p.H157R|AGAP10_ENST00000413193.2_Splice_Site_p.H228R|RP11-144G6.12_ENST00000605970.1_RNA			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	3	30	0	0	0	1	0	3	30				
SAMSN1	64092	broad.mit.edu	37	21	15893509	15893509	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr21:15893509G>A	ENST00000400566.1	-	2	172	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.R99W	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	31					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAATTATTCCGAAAACGATCG	0.299																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(295-297)Cgg>Tgg		SAM domain, SH3 domain and nuclear localization signals 1							37.0	35.0	36.0					21																	15893509		1803	4063	5866	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15893509G>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.91C>T	21.37:g.15893509G>A	ENSP00000383411:p.Arg31Trp					SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.R31W	p.R99W	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	3	469	-			31					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.295C>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	16.97	3.268103	0.59540	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.52983	0.64;0.64	5.48	3.56	0.40772	.	0.111985	0.56097	N	0.000022	T	0.40119	0.1104	L	0.55743	1.74	0.41321	D	0.987173	B;P	0.42039	0.333;0.769	B;B	0.39562	0.061;0.303	T	0.39461	-0.9613	10	0.66056	D	0.02	-13.6929	7.0454	0.25042	0.0869:0.0:0.5832:0.3299	.	99;31	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	W	99;31	ENSP00000285670:R99W;ENSP00000383411:R31W	ENSP00000285670:R99W	R	-	1	2	SAMSN1	14815380	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.677000	0.46892	1.304000	0.44892	0.557000	0.71058	CGG		0.299	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			5	29	0	0	0	1	0	5	29				
RGMB	285704	broad.mit.edu	37	5	98115491	98115491	+	Missense_Mutation	SNP	T	T	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr5:98115491T>A	ENST00000513185.1	+	2	780	c.344T>A	c.(343-345)cTc>cAc	p.L115H	RGMB_ENST00000308234.7_Missense_Mutation_p.L156H|RGMB_ENST00000504776.1_3'UTR			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	115					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ATCAGTGACCTCATGAGCCAG	0.557																																						ENST00000308234.7																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10						c.(466-468)cTc>cAc		repulsive guidance molecule family member b							61.0	62.0	62.0					5																	98115491		1994	4173	6167	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98115491T>A	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.344T>A	5.37:g.98115491T>A	ENSP00000423256:p.Leu115His					RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000513185.1_Missense_Mutation_p.L115H	p.L156H	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	4	869	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	115					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.467T>A		.	.	.	.	.	.	.	.	.	.	T	26.1	4.706387	0.89018	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.97994	-4.65;-4.65	5.4	5.4	0.78164	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98406	0.9470	M	0.71036	2.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99007	1.0813	10	0.48119	T	0.1	-23.3147	15.7042	0.77565	0.0:0.0:0.0:1.0	.	115	Q6NW40	RGMB_HUMAN	H	156;115	ENSP00000308219:L156H;ENSP00000423256:L115H	ENSP00000308219:L156H	L	+	2	0	RGMB	98143391	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.171000	0.68590	0.460000	0.39030	CTC		0.557	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		3	65	0	0	0	1	0	3	65				
OR6S1	341799	broad.mit.edu	37	14	21109731	21109731	+	Missense_Mutation	SNP	A	A	T			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr14:21109731A>T	ENST00000320704.3	-	1	119	c.120T>A	c.(118-120)aaT>aaA	p.N40K		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGCCTGTCAGATTCAGGAGAT	0.473																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(118-120)aaT>aaA		olfactory receptor, family 6, subfamily S, member 1							98.0	96.0	97.0					14																	21109731		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109731A>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.120T>A	14.37:g.21109731A>T	ENSP00000313110:p.Asn40Lys						p.N40K	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	119	-	all_cancers(95;0.00304)		40					Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.120T>A	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.850212	0.32699	.	.	ENSG00000181803	ENST00000320704	T	0.00505	6.93	5.84	2.01	0.26516	.	0.137449	0.33457	N	0.004900	T	0.00412	0.0013	L	0.46157	1.445	0.19945	N	0.99994	B	0.13594	0.008	B	0.15052	0.012	T	0.51268	-0.8727	10	0.87932	D	0	-5.2442	1.7313	0.02932	0.5531:0.1718:0.1086:0.1666	.	40	Q8NH40	OR6S1_HUMAN	K	40	ENSP00000313110:N40K	ENSP00000313110:N40K	N	-	3	2	OR6S1	20179571	0.000000	0.05858	0.994000	0.49952	0.527000	0.34593	-1.501000	0.02281	0.411000	0.25702	0.533000	0.62120	AAT		0.473	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			19	119	0	0	0	1	0	19	119				
CASP14	23581	broad.mit.edu	37	19	15166255	15166255	+	Nonsense_Mutation	SNP	C	C	T	rs546136139		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr19:15166255C>T	ENST00000427043.3	+	6	843	c.535C>T	c.(535-537)Cga>Tga	p.R179*	AC004699.1_ENST00000411269.1_RNA|CASP14_ENST00000221740.1_Nonsense_Mutation_p.R179*	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	179					cornification (GO:0070268)|epidermis development (GO:0008544)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinization (GO:0031424)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)	p.R179*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CATCGCCTACCGACATGATCA	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		18249	0.0		0.001	False		,,,				2504	0.0					ENST00000427043.3																			1	Substitution - Nonsense(1)	p.R179*(1)	large_intestine(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						c.(535-537)Cga>Tga		caspase 14, apoptosis-related cysteine peptidase							108.0	93.0	98.0					19																	15166255		2203	4300	6503	SO:0001587	stop_gained	23581				apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	g.chr19:15166255C>T		CCDS12323.1	19p13.1	2008-07-16	2005-08-17			ENSG00000105141			1502	protein-coding gene	gene with protein product	"""apoptosis-related cysteine protease"""	605848	"""caspase 14, apoptosis-related cysteine protease"""			10203698, 9792675	Standard	NM_012114		Approved	MICE, MGC119078, MGC119079	uc010dzv.2	P31944		ENST00000427043.3:c.535C>T	19.37:g.15166255C>T	ENSP00000393417:p.Arg179*					CASP14_ENST00000221740.1_Nonsense_Mutation_p.R179*	p.R179*	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN			6	843	+			179					O95823|Q3SYC9	Nonsense_Mutation	SNP	ENST00000427043.3	37	c.535C>T	CCDS12323.1	.	.	.	.	.	.	.	.	.	.	c	18.14	3.557660	0.65425	.	.	ENSG00000105141	ENST00000427043;ENST00000221740	.	.	.	4.5	2.0	0.26442	.	0.224065	0.30940	N	0.008578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8118	0.34971	0.4818:0.5181:0.0:0.0	.	.	.	.	X	179	.	ENSP00000221740:R179X	R	+	1	2	CASP14	15027255	0.998000	0.40836	0.999000	0.59377	0.061000	0.15899	1.156000	0.31712	0.681000	0.31386	-0.521000	0.04368	CGA		0.537	CASP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465663.1	NM_012114		3	105	0	0	0	1	0	3	105				
CSRNP2	81566	broad.mit.edu	37	12	51467752	51467752	+	Missense_Mutation	SNP	C	C	G			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr12:51467752C>G	ENST00000228515.1	-	3	562	c.265G>C	c.(265-267)Ggt>Cgt	p.G89R	CSRNP2_ENST00000550461.1_5'Flank	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	89					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GAGCTACCACCCTGGCTGGGC	0.552																																						ENST00000228515.1																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						c.(265-267)Ggt>Cgt		cysteine-serine-rich nuclear protein 2							85.0	90.0	88.0					12																	51467752		2203	4300	6503	SO:0001583	missense	81566				apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:51467752C>G	AJ298133	CCDS8807.1	12q13.11-q13.12	2012-04-17	2009-01-07	2009-01-07				"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16006	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 72"""		"""chromosome 12 open reading frame 22"", ""family with sequence similarity 130, member A1"""	C12orf22, FAM130A1		17726538	Standard	NM_030809		Approved	C12ORF2, TAIP-12, PPP1R72	uc001rxu.2	Q9H175		ENST00000228515.1:c.265G>C	12.37:g.51467752C>G	ENSP00000228515:p.Gly89Arg						p.G89R	NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN			3	562	-			89						Missense_Mutation	SNP	ENST00000228515.1	37	c.265G>C	CCDS8807.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099299	0.94197	.	.	ENSG00000110925	ENST00000228515;ENST00000548981	T;T	0.15834	2.39;2.39	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.50257	0.1605	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57837	-0.7742	10	0.87932	D	0	-21.8308	17.8355	0.88694	0.0:1.0:0.0:0.0	.	89	Q9H175	CSRN2_HUMAN	R	89	ENSP00000228515:G89R;ENSP00000447657:G89R	ENSP00000228515:G89R	G	-	1	0	CSRNP2	49754019	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.565000	0.82337	2.826000	0.97356	0.655000	0.94253	GGT		0.552	CSRNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404893.1			9	118	0	0	0	1	0	9	118				
SHC1	6464	broad.mit.edu	37	1	154940985	154940985	+	Missense_Mutation	SNP	C	C	T	rs371992948	byFrequency	TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:154940985C>T	ENST00000368445.5	-	4	950	c.736G>A	c.(736-738)Gca>Aca	p.A246T	SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T|SHC1_ENST00000448116.2_Missense_Mutation_p.A246T	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	246	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTGCAGTCTGCGGCCATGAGG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		19286	0.001		0.0	False		,,,				2504	0.001				NSCLC(4;32 234 1864 2492 3259 13747 17376)	ENST00000448116.2																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20						c.(736-738)Gca>Aca		SHC (Src homology 2 domain containing) transforming protein 1		C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	192.0	202.0	199.0		736,406,271,406,736	5.4	1.0	1		199	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SHC1	NM_001130040.1,NM_001130041.1,NM_001202859.1,NM_003029.4,NM_183001.4	58,58,58,58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign,benign,benign	246/585,136/474,91/429,136/475,246/584	154940985	1,13005	2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154940985C>T	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.736G>A	1.37:g.154940985C>T	ENSP00000357430:p.Ala246Thr					SHC1_ENST00000606391.1_Missense_Mutation_p.A47T|SHC1_ENST00000368450.1_Missense_Mutation_p.A136T|SHC1_ENST00000368453.4_Missense_Mutation_p.A136T|SHC1_ENST00000368445.5_Missense_Mutation_p.A246T|SHC1_ENST00000368449.4_Missense_Mutation_p.A17T	p.A246T	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	956	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		246			PID.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.736G>A	CCDS30881.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827512	0.50845	0.0	1.16E-4	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000414115;ENST00000444179;ENST00000412170;ENST00000366442	T;T;T;T;T;T;T;T;T	0.32272	2.07;2.07;2.07;2.07;2.07;1.46;2.07;2.07;2.07	5.45	5.45	0.79879	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.124032	0.53938	D	0.000045	T	0.07143	0.0181	N	0.11000	0.08	0.33533	D	0.593833	B;B;B	0.32829	0.386;0.023;0.029	B;B;B	0.29524	0.103;0.009;0.016	T	0.19031	-1.0318	10	0.23891	T	0.37	.	12.4188	0.55508	0.283:0.717:0.0:0.0	.	25;246;246	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	T	246;246;47;136;136;182;17;17;136;136	ENSP00000357430:A246T;ENSP00000401303:A246T;ENSP00000357434:A47T;ENSP00000357438:A136T;ENSP00000357435:A136T;ENSP00000404908:A17T;ENSP00000398864:A17T;ENSP00000398441:A136T;ENSP00000396162:A136T	ENSP00000396162:A136T	A	-	1	0	SHC1	153207609	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.811000	0.27198	2.555000	0.86185	0.467000	0.42956	GCA		0.552	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		5	469	0	0	0	1	0	5	469				
SRSF2	6427	broad.mit.edu	37	17	74732250	74732250	+	Missense_Mutation	SNP	G	G	C			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr17:74732250G>C	ENST00000392485.2	-	2	831	c.659C>G	c.(658-660)tCc>tGc	p.S220C	SRSF2_ENST00000508921.3_Missense_Mutation_p.S208C|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000591864.1_5'Flank|SRSF2_ENST00000359995.5_Missense_Mutation_p.S220C|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'Flank|MFSD11_ENST00000586622.1_Intron|MFSD11_ENST00000590514.1_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	220	Arg/Ser-rich (RS domain).				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						TTCTTAAGAGGACACCGCTCC	0.483			Mis		"""MDS, CLL"""																																	ENST00000392485.2				Dom	yes		17	17q25	6427	Mis	serine/arginine-rich splicing factor 2			L			"""MDS, CLL"""		0				haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						c.(658-660)tCc>tGc		serine/arginine-rich splicing factor 2							72.0	79.0	76.0					17																	74732250		2203	4300	6503	SO:0001583	missense	6427				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity	g.chr17:74732250G>C	M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.659C>G	17.37:g.74732250G>C	ENSP00000376276:p.Ser220Cys					MFSD11_ENST00000586622.1_Intron|RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000508921.3_Missense_Mutation_p.S208C|SRSF2_ENST00000359995.5_Missense_Mutation_p.S220C	p.S220C	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN			2	831	-			220			Arg/Ser-rich (RS domain).		B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	ENST00000392485.2	37	c.659C>G	CCDS11749.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.81|15.81	2.943346|2.943346	0.53079|0.53079	.|.	.|.	ENSG00000161547|ENSG00000161547	ENST00000452355|ENST00000392485;ENST00000358156;ENST00000359995	.|T;T	.|0.40225	.|1.2;1.04	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	.|0.377447	.|0.22819	.|N	.|0.055250	T|T	0.27134|0.27134	0.0665|0.0665	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58620	.|0.983;0.983	.|B;B	.|0.43783	.|0.431;0.431	T|T	0.43845|0.43845	-0.9366|-0.9366	6|10	0.87932|0.87932	D|D	0|0	.|.	17.9573|17.9573	0.89073|0.89073	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|208;220	.|B4DN89;Q01130	.|.;SRSF2_HUMAN	A|C	170|220;208;200	.|ENSP00000376276:S220C;ENSP00000353089:S200C	ENSP00000391278:P170A|ENSP00000350877:S208C	P|S	-|-	1|2	0|0	SRSF2|SRSF2	72243845|72243845	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.932000|0.932000	0.56968|0.56968	7.517000|7.517000	0.81783|0.81783	2.227000|2.227000	0.72691|0.72691	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.483	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437489.1	NM_003016		3	146	0	0	0	1	0	3	146				
IGHG3	3502	broad.mit.edu	37	14	106237582	106237582	+	RNA	SNP	C	C	T	rs2983776		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr14:106237582C>T	ENST00000390551.2	-	0	160							P01860	IGHG3_HUMAN	immunoglobulin heavy constant gamma 3 (G3m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										GTAGGACAGCCGGGAAGGTGT	0.637																																						ENST00000390551.2																			0																				44.0	41.0	42.0					14																	106237582		1903	4068	5971			0							g.chr14:106237582C>T	M12958		14q32.33	2012-10-02			ENSG00000211897	ENSG00000211897		"""Immunoglobulins / IGH locus"""	5527	other	immunoglobulin gene		147120				6808505	Standard	NG_001019		Approved			P01860	OTTHUMG00000152539		14.37:g.106237582C>T														0	160	-								A2NU35	RNA	SNP	ENST00000390551.2	37																																																																																						0.637	IGHG3-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326654.1	NG_001019		3	50	0	0	0	1	0	3	50				
PRSS27	83886	broad.mit.edu	37	16	2764076	2764076	+	Silent	SNP	G	G	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr16:2764076G>A	ENST00000302641.3	-	4	552	c.498C>T	c.(496-498)ccC>ccT	p.P166P	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	166	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CTTCCTCACTGGGGCTGCCCC	0.597																																						ENST00000302641.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						c.(496-498)ccC>ccT		protease, serine 27							88.0	89.0	89.0					16																	2764076		2198	4300	6498	SO:0001819	synonymous_variant	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2764076G>A	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.498C>T	16.37:g.2764076G>A							p.P166P	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN			4	552	-			166			Peptidase S1.			Silent	SNP	ENST00000302641.3	37	c.498C>T	CCDS10476.1																																																																																				0.597	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		72	122	0	0	0	1	0	72	122				
OR1K1	392392	broad.mit.edu	37	9	125563190	125563190	+	Silent	SNP	C	C	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr9:125563190C>A	ENST00000277309.2	+	1	821	c.789C>A	c.(787-789)gcC>gcA	p.A263A		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ACTTCCAGGCCACATCCCGAC	0.612																																						ENST00000277309.2																			0				endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						c.(787-789)gcC>gcA		olfactory receptor, family 1, subfamily K, member 1							116.0	105.0	109.0					9																	125563190		2203	4300	6503	SO:0001819	synonymous_variant	0				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125563190C>A	AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.789C>A	9.37:g.125563190C>A							p.A263A	NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN			1	821	+			263					B9EH41|Q4VXB7|Q96R23	Silent	SNP	ENST00000277309.2	37	c.789C>A	CCDS35132.1																																																																																				0.612	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053958.1			4	146	1	0	1	1	1	4	146				
LRPAP1	4043	broad.mit.edu	37	4	3534117	3534117	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr4:3534117G>A	ENST00000500728.2	-	1	169	c.23C>T	c.(22-24)tCg>tTg	p.S8L	LRPAP1_ENST00000296325.5_5'Flank	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	8					extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGCAGAAACGACCTGACCCT	0.711																																						ENST00000500728.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(22-24)tCg>tTg		low density lipoprotein receptor-related protein associated protein 1							11.0	13.0	13.0					4																	3534117		2171	4278	6449	SO:0001583	missense	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3534117G>A		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.23C>T	4.37:g.3534117G>A	ENSP00000421922:p.Ser8Leu						p.S8L	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	1	169	-			8					D3DVR9|Q2M310|Q53HQ3|Q53HS6	Missense_Mutation	SNP	ENST00000500728.2	37	c.23C>T	CCDS3371.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963702	0.34659	.	.	ENSG00000163956	ENST00000500728	T	0.33216	1.42	3.15	-3.5	0.04710	.	3.037260	0.01740	N	0.029327	T	0.21145	0.0509	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.28004	-1.0057	10	0.72032	D	0.01	.	4.9876	0.14198	0.5649:0.1652:0.2699:0.0	.	8	P30533	AMRP_HUMAN	L	8	ENSP00000421922:S8L	ENSP00000421922:S8L	S	-	2	0	LRPAP1	3503915	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.121000	0.10643	-0.846000	0.04174	-0.225000	0.12378	TCG		0.711	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4			3	4	0	0	0	1	0	3	4				
TMEM248	55069	broad.mit.edu	37	7	66410130	66410130	+	Silent	SNP	G	G	T	rs540067694	byFrequency	TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr7:66410130G>T	ENST00000341567.4	+	3	582	c.327G>T	c.(325-327)ccG>ccT	p.P109P		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	109						integral component of membrane (GO:0016021)											ACTCGGGCCCGGTGAATATCT	0.582																																						ENST00000341567.4																			0											c.(325-327)ccG>ccT		transmembrane protein 248							60.0	63.0	62.0					7																	66410130		2203	4300	6503	SO:0001819	synonymous_variant	55069							g.chr7:66410130G>T		CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.327G>T	7.37:g.66410130G>T							p.P109P	NM_017994.4	NP_060464.1					3	582	+								Q53H07|Q96FR2	Silent	SNP	ENST00000341567.4	37	c.327G>T	CCDS5536.1																																																																																				0.582	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994		3	88	1	0	1	1	1	3	88				
NF1	4763	broad.mit.edu	37	17	29701105	29701105	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr17:29701105G>A	ENST00000358273.4	+	58	8835	c.8452G>A	c.(8452-8454)Gca>Aca	p.A2818T	NF1_ENST00000356175.3_Missense_Mutation_p.A2797T|NF1_ENST00000444181.2_Missense_Mutation_p.A611T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2818					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCACGGATCCGCAAGCCAAGT	0.458			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(8452-8454)Gca>Aca		neurofibromin 1							78.0	75.0	76.0					17																	29701105		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29701105G>A		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.8452G>A	17.37:g.29701105G>A	ENSP00000351015:p.Ala2818Thr	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000444181.2_Missense_Mutation_p.A611T|NF1_ENST00000356175.3_Missense_Mutation_p.A2797T	p.A2818T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	58	8835	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2818					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.8452G>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858528	0.91433	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181	T;T;T;T	0.59502	2.83;2.98;2.66;0.26	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.972	T	0.63497	-0.6624	9	.	.	.	.	19.6809	0.95962	0.0:0.0:1.0:0.0	.	2797;2818	P21359-2;P21359	.;NF1_HUMAN	T	2818;2797;2481;611	ENSP00000351015:A2818T;ENSP00000348498:A2797T;ENSP00000389907:A2481T;ENSP00000396481:A611T	.	A	+	1	0	NF1	26725231	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.369000	0.97156	2.644000	0.89710	0.655000	0.94253	GCA		0.458	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		4	63	0	0	0	1	0	4	63				
TTN	7273	broad.mit.edu	37	2	179529585	179529585	+	Intron	SNP	C	C	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr2:179529585C>A	ENST00000591111.1	-	153	34489				TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V12038F|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACCTTTAACTGATGGGGGT	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(36112-36114)Gtt>Ttt		titin							31.0	30.0	31.0					2																	179529585		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179529585C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34264+5359G>T	2.37:g.179529585C>A						TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron	p.V12038F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		166	36336	-			10186					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.36112G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.90|10.90	1.482216|1.482216	0.26598|0.26598	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000425332|ENST00000541862;ENST00000392423	.|.	.|.	.|.	5.17|5.17	-0.135|-0.135	0.13477|0.13477	.|.	.|.	.|.	.|.	.|.	T|T	0.18676|0.18676	0.0448|0.0448	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|P	.|0.35844	.|0.524	.|B	.|0.25140	.|0.058	T|T	0.16070|0.16070	-1.0415|-1.0415	4|7	.|0.59425	.|D	.|0.04	.|.	3.0434|3.0434	0.06146|0.06146	0.1103:0.4706:0.2158:0.2034|0.1103:0.4706:0.2158:0.2034	.|.	.|312	.|Q71S18	.|.	H|F	101|312;164	.|.	.|ENSP00000376219:V164F	Q|V	-|-	3|1	2|0	TTN|TTN	179237830|179237830	0.000000|0.000000	0.05858|0.05858	0.401000|0.401000	0.26359|0.26359	0.988000|0.988000	0.76386|0.76386	-0.868000|-0.868000	0.04236|0.04236	0.282000|0.282000	0.22254|0.22254	-0.181000|-0.181000	0.13052|0.13052	CAG|GTT		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	15	1	0	0.00198382	1	0.00224833	5	15				
ANXA3	306	broad.mit.edu	37	4	79525503	79525503	+	Silent	SNP	C	C	A	rs377732793		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr4:79525503C>A	ENST00000264908.6	+	12	1241	c.862C>A	c.(862-864)Cga>Aga	p.R288R	ANXA3_ENST00000503570.2_Silent_p.R249R|ANXA3_ENST00000512884.1_Silent_p.R249R	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	288					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TTTGGACATTCGAACAGAGTT	0.368																																					GBM(2;126 157 27790 28920 42492)	ENST00000264908.6																			0				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(862-864)Cga>Aga		annexin A3							116.0	111.0	113.0					4																	79525503		2203	4300	6503	SO:0001819	synonymous_variant	306				defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	g.chr4:79525503C>A	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.862C>A	4.37:g.79525503C>A						ANXA3_ENST00000503570.2_Silent_p.R249R|ANXA3_ENST00000512884.1_Silent_p.R249R	p.R288R	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN			12	1241	+			288					B2R9W6|Q6LET2	Silent	SNP	ENST00000264908.6	37	c.862C>A	CCDS3584.1																																																																																				0.368	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139		3	94	1	0	1	1	1	3	94				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	64	0	0	0	1	0	3	64				
MST1L	11223	broad.mit.edu	37	1	17085189	17085189	+	RNA	SNP	A	A	G			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:17085189A>G	ENST00000455405.2	-	0	87							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.S428P(1)									TCCAGGATTGATGGCGGCTGG	0.572																																						ENST00000455405.2																			1	Substitution - Missense(1)	p.S428P(1)	kidney(1)																																																0							g.chr1:17085189A>G	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085189A>G														0	87	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37			.	.	.	.	.	.	.	.	.	.	.	11.85	1.762304	0.31228	.	.	ENSG00000186715	ENST00000389184	.	.	.	.	.	.	.	.	.	.	.	T	0.41373	0.1156	.	.	.	.	.	.	.	.	.	.	.	.	T	0.49133	-0.8971	2	0.35671	T	0.21	.	.	.	.	.	.	.	.	P	428	.	ENSP00000445850:S428P	S	-	1	0	MST1P9	16957776	0.023000	0.18921	0.000000	0.03702	0.000000	0.00434	-1.003000	0.03682	0.000000	0.14550	0.000000	0.15137	TCA		0.572	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		5	80	0	0	0	1	0	5	80				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	63	0	0	0	1	0	3	63				
HS3ST5	222537	broad.mit.edu	37	6	114379018	114379018	+	Silent	SNP	A	A	G			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr6:114379018A>G	ENST00000312719.5	-	5	1632	c.444T>C	c.(442-444)ccT>ccC	p.P148P	RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.P148P			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	148					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TGATTTGCTGAGGGTAGGAAA	0.373																																						ENST00000312719.5																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41						c.(442-444)ccT>ccC		heparan sulfate (glucosamine) 3-O-sulfotransferase 5							126.0	130.0	129.0					6																	114379018		2203	4300	6503	SO:0001819	synonymous_variant	222537				heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	g.chr6:114379018A>G	AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.444T>C	6.37:g.114379018A>G						HS3ST5_ENST00000411826.1_Silent_p.P148P|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA	p.P148P			Q8IZT8	HS3S5_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)	5	1632	-		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)	148					A8K1J2|Q52LI2|Q8N285	Silent	SNP	ENST00000312719.5	37	c.444T>C	CCDS34517.1																																																																																				0.373	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041911.2	NM_153612		67	133	0	0	0	1	0	67	133				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		23	59	0	0	0	1	0	23	59				
PLA2R1	22925	broad.mit.edu	37	2	160869870	160869870	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr2:160869870C>A	ENST00000283243.7	-	10	1774	c.1568G>T	c.(1567-1569)gGt>gTt	p.G523V	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G523V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	523	C-type lectin 3. {ECO:0000255|PROSITE- ProRule:PRU00040}.			RHG -> ETC (in Ref. 1; AAA70110/ AAC50163). {ECO:0000305}.	cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ACAGAATCCACCATGTCTCTC	0.378																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1567-1569)gGt>gTt		phospholipase A2 receptor 1, 180kDa							100.0	95.0	97.0					2																	160869870		2203	4300	6503	SO:0001583	missense	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160869870C>A	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1568G>T	2.37:g.160869870C>A	ENSP00000283243:p.Gly523Val					PLA2R1_ENST00000392771.1_Missense_Mutation_p.G523V	p.G523V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			10	1774	-			523	RHG -> ETC (in Ref. 1; AAA70110/ AAC50163).		C-type lectin 3.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.1568G>T	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901105	0.72754	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.10005	2.92;2.92	5.26	4.39	0.52855	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.236182	0.43416	D	0.000574	T	0.35682	0.0940	M	0.87038	2.855	0.80722	D	1	P;D;D	0.76494	0.834;0.993;0.999	B;P;D	0.64776	0.365;0.903;0.929	T	0.39961	-0.9588	10	0.72032	D	0.01	.	13.9664	0.64211	0.0:0.9266:0.0:0.0734	.	523;523;523	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	V	523	ENSP00000283243:G523V;ENSP00000376524:G523V	ENSP00000283243:G523V	G	-	2	0	PLA2R1	160578116	0.995000	0.38212	0.844000	0.33320	0.966000	0.64601	3.718000	0.54919	1.344000	0.45657	0.650000	0.86243	GGT		0.378	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			16	43	1	0	1.3612e-06	1	1.65289e-06	16	43				
LAMA2	3908	broad.mit.edu	37	6	129588337	129588337	+	Silent	SNP	C	C	A			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr6:129588337C>A	ENST00000421865.2	+	16	2344	c.2295C>A	c.(2293-2295)tcC>tcA	p.S765S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	765	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGCGGAGTCCTGTGATGACG	0.488																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(2293-2295)tcC>tcA		laminin, alpha 2							315.0	261.0	279.0					6																	129588337		2203	4300	6503	SO:0001819	synonymous_variant	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129588337C>A	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2295C>A	6.37:g.129588337C>A							p.S765S	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	16	2344	+			765			Laminin EGF-like 6.		Q14736|Q5VUM2|Q93022	Silent	SNP	ENST00000421865.2	37	c.2295C>A	CCDS5138.1																																																																																				0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			4	227	1	0	0.00024832	1	0.000291134	4	227				
NAP1L4	4676	broad.mit.edu	37	11	2981037	2981037	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr11:2981037A>G	ENST00000380542.4	-	9	849	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	NAP1L4_ENST00000526115.1_Missense_Mutation_p.F237L	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	237					nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TCAAAGGAAAAGGGATCAGCC	0.373																																						ENST00000380542.4																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13						c.(709-711)Ttt>Ctt		nucleosome assembly protein 1-like 4							139.0	127.0	131.0					11																	2981037		1852	4082	5934	SO:0001583	missense	4676				nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding	g.chr11:2981037A>G	AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.709T>C	11.37:g.2981037A>G	ENSP00000369915:p.Phe237Leu					NAP1L4_ENST00000526115.1_Missense_Mutation_p.F237L	p.F237L	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)	9	849	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	237					B2R6J4|F5HFY4	Missense_Mutation	SNP	ENST00000380542.4	37	c.709T>C	CCDS41599.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.805961	0.50421	.	.	ENSG00000205531	ENST00000399624;ENST00000380542;ENST00000526115;ENST00000532325;ENST00000448187	T;T;T	0.26223	1.75;1.75;1.75	4.87	3.73	0.42828	.	0.000000	0.85682	D	0.000000	T	0.37019	0.0988	L	0.56396	1.775	0.80722	D	1	P;P	0.44776	0.843;0.546	P;B	0.53006	0.715;0.387	T	0.05386	-1.0888	10	0.38643	T	0.18	-9.5204	11.7769	0.51991	0.8525:0.1475:0.0:0.0	.	237;237	F5HFY4;Q99733	.;NP1L4_HUMAN	L	237;237;237;122;249	ENSP00000369915:F237L;ENSP00000436397:F237L;ENSP00000387783:F249L	ENSP00000369915:F237L	F	-	1	0	NAP1L4	2937613	1.000000	0.71417	0.188000	0.23233	0.582000	0.36321	8.584000	0.90798	0.868000	0.35678	0.455000	0.32223	TTT		0.373	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030273.3	NM_005969		3	69	0	0	0	1	0	3	69				
OR2T29	343563	broad.mit.edu	37	1	248722467	248722470	+	Frame_Shift_Del	DEL	AGAT	AGAT	-			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr1:248722467_248722470delAGAT	ENST00000328570.3	-	1	327_330	c.323_326delATCT	c.(322-327)tatctgfs	p.YL108fs	RP11-438F14.3_ENST00000438623.1_RNA	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	olfactory receptor, family 2, subfamily T, member 29	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|lung(4)	5	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTAGTGTCAGATAGAGGAACAT	0.525																																						ENST00000328570.3																			0				NS(1)|lung(4)	5						c.(322-327)tgfs		olfactory receptor, family 2, subfamily T, member 29				7,1113		2,3,555						-0.4	0.1			2	0,1480		0,0,740	no	frameshift	OR2T29	NM_001004694.2		2,3,1295	A1A1,A1R,RR		0.0,0.625,0.2692				7,2593				SO:0001589	frameshift_variant	343563				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248722467_248722470delAGAT		CCDS55695.1	1q44	2012-08-09			ENSG00000182783	ENSG00000182783		"""GPCR / Class A : Olfactory receptors"""	31253	protein-coding gene	gene with protein product							Standard	NM_001004694		Approved		uc001ieo.2	Q8NH02	OTTHUMG00000040382	ENST00000328570.3:c.323_326delATCT	1.37:g.248722467_248722470delAGAT	ENSP00000331774:p.Tyr108fs					RP11-438F14.3_ENST00000438623.1_RNA	p.YL108fs	NM_001004694.2	NP_001004694.2	Q8NH02	O2T29_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	327_330	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		108						Frame_Shift_Del	DEL	ENST00000328570.3	37	c.323_326delATCT	CCDS55695.1																																																																																				0.525	OR2T29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097132.1	NM_001004694		2	4						2	4	---	---	---	---
IL12A-AS1	101928376	broad.mit.edu	37	3	159820108	159820109	+	RNA	INS	-	-	A	rs562526147	byFrequency	TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr3:159820108_159820109insA	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		CTTGACACAGCAAAAAAAAATG	0.441													AAAAGAAA|AAAAAAAAA|AAAAAAAAAA|cryptic_indel	6	0.00119808	0.003	0.0	5008	,	,		19317	0.001		0.001	False		,,,				2504	0.0					ENST00000497452.1																			0																																																			0							g.chr3:159820108_159820109insA	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159820117_159820117dupA														0	517	-									RNA	INS	ENST00000497452.1	37																																																																																						0.441	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			8	129						8	129	---	---	---	---
SP8	221833	broad.mit.edu	37	7	20824941	20824943	+	In_Frame_Del	DEL	GCC	GCC	-	rs372591893	byFrequency	TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr7:20824941_20824943delGCC	ENST00000361443.4	-	3	676_678	c.439_441delGGC	c.(439-441)ggcdel	p.G147del	SP8_ENST00000418710.2_In_Frame_Del_p.G165del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	147					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G165delG(1)|p.G147delG(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGCGGAGGAgccgccgccgccg	0.729														461	0.0920527	0.0098	0.1124	5008	,	,		5525	0.002		0.2664	False		,,,				2504	0.1022					ENST00000361443.4																			2	Deletion - In frame(2)	p.G165delG(1)|p.G147delG(1)	central_nervous_system(2)	NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(439-441)del		Sp8 transcription factor			,	50,654		19,12,321					,	0.5	0.3			2	602,1424		217,168,628	no	coding,coding	SP8	NM_198956.2,NM_182700.4	,	236,180,949	A1A1,A1R,RR		29.7137,7.1023,23.8828	,	,		652,2078				SO:0001651	inframe_deletion	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824941_20824943delGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.439_441delGGC	7.37:g.20824950_20824952delGCC	ENSP00000354482:p.Gly147del					SP8_ENST00000418710.2_In_Frame_Del_p.G165del	p.G147del	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN			3	676_678	-			147					Q7Z615|Q7Z616|Q96MJ1	In_Frame_Del	DEL	ENST00000361443.4	37	c.439_441delGGC	CCDS5372.1																																																																																				0.729	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			4	6						4	6	---	---	---	---
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr11:3720389delT	ENST00000324932.7	-	25	4352	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000488828.1_5'Flank|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1328					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(3931-3933)acfs		nucleoporin 98kDa							176.0	183.0	180.0					11																	3720389		2201	4298	6499	SO:0001589	frameshift_variant	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3720389delT	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.3932delA	11.37:g.3720389delT	ENSP00000316032:p.Asn1311fs					NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs	p.N1311fs	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	25	4352	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1328					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Frame_Shift_Del	DEL	ENST00000324932.7	37	c.3932delA	CCDS7746.1																																																																																				0.512	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		7	343						7	343	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-IM-A3EB-01A-11D-A202-08	TCGA-IM-A3EB-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9d2ce873-ca14-42b9-97c2-6d62990c8e29	ee7db9b2-b212-4456-8a4b-ef93d52aea0d	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	9	15						9	15	---	---	---	---
