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
RERE	473	broad.mit.edu	37	1	8424241	8424242	+	Frame_Shift_Ins	INS	-	-	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:8424241_8424242insT	uc001ape.3	-	15	2424_2425	c.1614_1615insA	c.(1612-1617)aaatacfs	p.K538fs	RERE_uc001apf.3_Frame_Shift_Ins_p.K538fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.K270fs|RERE_uc001apd.3_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	538					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGCTCACCGTATTTCTTGAAGT	0.569												
MSH4	4438	broad.mit.edu	37	1	76288094	76288094	+	Silent	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:76288094G>A	uc001dhd.2	+	7	1105	c.990_splice	c.e7-1	p.R330_splice		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	330					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GTTTTGAAAGGAATAATCACA	0.308								Mismatch excision repair (MMR)				
RPL5	6125	broad.mit.edu	37	1	93303161	93303161	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:93303161T>C	uc001doz.3	+	5	754	c.676T>C	c.(676-678)Tac>Cac	p.Y226H	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.Y176H|RPL5_uc001dpd.3_Missense_Mutation_p.Y27H|SNORA66_uc021opt.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	226					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GTTCTCTCAATACATAAAGAA	0.368												
SCYL3	57147	broad.mit.edu	37	1	169833511	169833511	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:169833511delT	uc001ggs.2	-	9	1153	c.955_splice	c.e9+1	p.D319_splice	SCYL3_uc010plw.1_Splice_Site|SCYL3_uc001ggt.2_Splice_Site_p.D319_splice	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	319					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393												
RAG2	5897	broad.mit.edu	37	11	36615451	36615451	+	Missense_Mutation	SNP	G	G	C	rs149769148		TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr11:36615451G>C	uc021qge.1	-	0	268	c.268C>G	c.(268-270)Caa>Gaa	p.Q90E	RAG2_uc021qgc.1_Missense_Mutation_p.Q90E|RAG2_uc021qgd.1_Missense_Mutation_p.Q90E|RAG2_uc001mwv.4_Missense_Mutation_p.Q90E|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	90					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATGATGTATTGATGCTTTTCA	0.413									Familial Hemophagocytic Lymphohistiocytosis			
KDELC2	143888	broad.mit.edu	37	11	108361783	108361783	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr11:108361783C>T	uc001pkj.2	-	1	380	c.314G>A	c.(313-315)aGg>aAg	p.R105K	KDELC2_uc001pki.2_Missense_Mutation_p.R49K	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	105						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		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;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TTCATACATCCTATATCTCAT	0.388												
ESAM	90952	broad.mit.edu	37	11	124623728	124623728	+	Silent	SNP	A	A	C			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr11:124623728A>C	uc001qav.4	-	6	1160	c.987T>G	c.(985-987)ggT>ggG	p.G329G	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Silent_p.G256G|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	329					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGTCAATGCACCAGGCCTGG	0.647												
ANKRD33	341405	broad.mit.edu	37	12	52284586	52284586	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr12:52284586C>T	uc001rzd.3	+	4	1034	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.R161W|ANKRD33_uc001rze.3_Missense_Mutation_p.R182W|ANKRD33_uc001rzg.4_Missense_Mutation_p.R88W|ANKRD33_uc001rzi.4_Missense_Mutation_p.R161W	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	161										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ACTCCTAGAACGGCTGCAGGC	0.662												
FOXG1	2290	broad.mit.edu	37	14	29236624	29236626	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr14:29236624_29236626delCAC	uc001wqe.3	+	0	338_340	c.139_141delCAC	c.(139-141)cacdel	p.H57del		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	57	His-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ccacccccagcaccaccaccacc	0.744												
IGDCC3	9543	broad.mit.edu	37	15	65621380	65621380	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr15:65621380T>A	uc002aos.2	-	13	2564	c.2312A>T	c.(2311-2313)gAg>gTg	p.E771V	IGDCC3_uc002aor.1_Missense_Mutation_p.E57V	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	771										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGCCGTGGCCTCTGTGGTCTT	0.716												
RBBP6	5930	broad.mit.edu	37	16	24581255	24581256	+	Frame_Shift_Ins	INS	-	-	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr16:24581255_24581256insA	uc002dmh.3	+	16	4284_4285	c.3244_3245insA	c.(3244-3246)gaafs	p.E1082fs	RBBP6_uc010vcb.1_Frame_Shift_Ins_p.E949fs|RBBP6_uc002dmi.3_Frame_Shift_Ins_p.E1048fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Ins_p.E915fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1082	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCAGAAGGATGAAAAAATCACT	0.406												
CES3	23491	broad.mit.edu	37	16	66997813	66997813	+	Missense_Mutation	SNP	C	C	T	rs148620443	byFrequency	TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr16:66997813C>T	uc002eqt.3	+	3	614	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	CES3_uc010cdz.3_Missense_Mutation_p.R179C	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	179						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGTCCAGTACCGCCTTGGGGT	0.607												
SSTR2	6752	broad.mit.edu	37	17	71166297	71166297	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr17:71166297T>C	uc002jje.3	+	1	1199	c.839T>C	c.(838-840)gTc>gCc	p.V280A	SSTR2_uc021ucm.1_Missense_Mutation_p.V280A	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	280					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	p.V280I(1)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GTTTCTTCCGTCTCCATGGCC	0.512												
CDH19	28513	broad.mit.edu	37	18	64178924	64178925	+	Splice_Site	INS	-	-	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr18:64178924_64178925insA	uc002lkc.1	-	10	1597	c.1459_splice	c.e10-1	p.V487_splice	CDH19_uc010dql.1_Splice_Site|CDH19_uc010xey.1_Intron	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	487	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTGAATTACCTAAAAAAAAAGG	0.317												
ZNF516	9658	broad.mit.edu	37	18	74091275	74091275	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr18:74091275G>A	uc021ulp.1	-	3	3113	c.2795C>T	c.(2794-2796)aCg>aTg	p.T932M	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	932					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T932M(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GACGGTGGGCGTAGGGGTGGC	0.726												
ZNF135	7694	broad.mit.edu	37	19	58578313	58578313	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr19:58578313C>T	uc002qrg.3	+	3	536	c.533C>T	c.(532-534)aCg>aTg	p.T178M	ZNF135_uc002qre.3_Missense_Mutation_p.T154M|ZNF135_uc002qrf.3_Missense_Mutation_p.T112M|ZNF135_uc010yhq.2_Missense_Mutation_p.T166M|ZNF135_uc010yhr.2_5'UTR|ZNF135_uc002qrd.2_Missense_Mutation_p.T166M|ZNF135_uc021vcu.1_Intron	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	166					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T178K(1)|p.T154K(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCTGTGAAGACGCCTGTTCTG	0.557												
GALNT14	79623	broad.mit.edu	37	2	31360949	31360949	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr2:31360949G>A	uc002rns.3	-	0	644	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	GALNT14_uc010ymr.2_5'UTR|GALNT14_uc002rnr.3_Missense_Mutation_p.R2W|GALNT14_uc010ezo.2_Missense_Mutation_p.R2W|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	2						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GTCAGGCGCCGCATGGTCCCC	0.682												
RCAN2	51776	broad.mit.edu	37	2	174104210	174104210	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr2:174104210G>A	uc002uhz.3	+	15	1545	c.1345G>A	c.(1345-1347)Gga>Aga	p.G449R	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTTGAAACCAGGAACTGGCCC	0.398												
SEMG2	6407	broad.mit.edu	37	20	43851147	43851147	+	Missense_Mutation	SNP	C	C	T	rs140069155		TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr20:43851147C>T	uc010ggz.3	+	1	931	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	SEMG2_uc002xnk.3_Missense_Mutation_p.R292C|SEMG2_uc002xnl.3_Missense_Mutation_p.R292C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292S(2)|p.S291P(1)|p.R292H(1)|p.R292L(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCCGTCTTCACGTACAGAAGA	0.393												
LMCD1	29995	broad.mit.edu	37	3	8574487	8574487	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:8574487C>T	uc003bqq.3	+	1	221	c.107C>T	c.(106-108)tCg>tTg	p.S36L	LMCD1_uc011atd.2_Intron|LMCD1_uc011ate.2_Silent_p.F9F	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	36	Cys-rich.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GGGACGTGTTCGGGCTTCGAG	0.537												
TLR9	54106	broad.mit.edu	37	3	52257538	52257538	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:52257538C>A	uc003ddb.3	-	4	1295	c.1085G>T	c.(1084-1086)tGc>tTc	p.C362F	TLR9_uc003dda.2_Missense_Mutation_p.C265F	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	265					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GCACTCCATGCAGGGGTTGGG	0.617												
U2SURP	23350	broad.mit.edu	37	3	142773820	142773820	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:142773820G>A	uc003evh.1	+	26	2909	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H	U2SURP_uc003evi.1_Missense_Mutation_p.R528H|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.R936H	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	937	Arg/Ser-rich.				RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AGCCCATCTCGCAGTAGCAGT	0.478												
PIK3CA	5290	broad.mit.edu	37	3	178921548	178921548	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:178921548G>A	uc003fjk.3	+	4	1187	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	344					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.V344M(9)|p.V344G(5)|p.V344A(3)|p.Y343C(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGCAACCTACGTGAATGTAAA	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
PIK3R1	5295	broad.mit.edu	37	5	67591152	67591152	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:67591152delT	uc003jva.3	+	13	2325	c.1745_splice	c.e13+1	p.M582_splice	PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	582					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAATACTTGATGTAAGTATTT	0.373			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
AFF4	27125	broad.mit.edu	37	5	132227876	132227877	+	Frame_Shift_Ins	INS	-	-	G			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:132227876_132227877insG	uc003kyd.3	-	12	3024_3025	c.2616_2617insC	c.(2614-2619)tccagtfs	p.S872fs	AFF4_uc011cxk.2_Frame_Shift_Ins_p.S550fs|AFF4_uc003kye.1_Frame_Shift_Ins_p.S872fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	872	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGAGCTACTGGAAGTCTTCC	0.470												
PCDHAC2	56142	broad.mit.edu	37	5	140209539	140209539	+	Silent	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:140209539G>A	uc003lho.2	+	0	1890	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.P621P	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTTCCCGTTTCGCGTGG	0.657												
SH3RF2	153769	broad.mit.edu	37	5	145439569	145439569	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:145439569G>A	uc003lnt.3	+	8	1934	c.1696G>A	c.(1696-1698)Gtg>Atg	p.V566M	SH3RF2_uc011dbl.1_Missense_Mutation_p.V566M|SH3RF2_uc011dbm.1_Missense_Mutation_p.V51M|SH3RF2_uc003lnu.3_Missense_Mutation_p.V57M|SH3RF2_uc011dbn.1_Missense_Mutation_p.V57M|SH3RF2_uc011dbo.2_Missense_Mutation_p.V23M	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	566							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCTCAGCCGTGGTGGTGGA	0.672												
RIMS1	22999	broad.mit.edu	37	6	72957754	72957754	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr6:72957754C>A	uc003pga.3	+	11	2242	c.2165C>A	c.(2164-2166)cCt>cAt	p.P722H	RIMS1_uc011dyb.2_Missense_Mutation_p.P348H|RIMS1_uc003pgc.3_Missense_Mutation_p.P348H|RIMS1_uc010kaq.3_Missense_Mutation_p.P196H|RIMS1_uc011dyc.2_Missense_Mutation_p.P196H|RIMS1_uc010kar.3_Missense_Mutation_p.P115H|RIMS1_uc011dyd.2_Missense_Mutation_p.P181H|RIMS1_uc003pge.3_5'Flank|RIMS1_uc003pgf.3_5'Flank|RIMS1_uc003pgi.3_5'Flank|RIMS1_uc003pgg.3_5'Flank|RIMS1_uc003pgh.3_5'Flank|RIMS1_uc003pgd.3_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.P348H|RIMS1_uc010kas.1_Missense_Mutation_p.P181H	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	722					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGGAAAGGCCTTCCATTTCT	0.333												
DENND2A	27147	broad.mit.edu	37	7	140301861	140301861	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr7:140301861C>T	uc010lnk.3	-	2	857	c.337G>A	c.(337-339)Gga>Aga	p.G113R	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.G113R|DENND2A_uc003vvw.3_Missense_Mutation_p.G113R|DENND2A_uc003vvx.3_Missense_Mutation_p.G113R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	113										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTCACTGCTCCTTTATTCCTC	0.587												
OR13C5	138799	broad.mit.edu	37	9	107361451	107361452	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr9:107361451_107361452delGC	uc011lvp.2	-	0	243_244	c.243_244delGC	c.(241-246)acgctafs	p.T81fs		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						AAGCTCACTAGCGTGGAGGGAA	0.510												
CXorf66	347487	broad.mit.edu	37	X	139038184	139038184	+	Silent	SNP	T	T	C			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chrX:139038184T>C	uc004fbb.3	-	2	979	c.957A>G	c.(955-957)gcA>gcG	p.A319A		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	319						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GATCACCGTATGCATTGTTCC	0.383												
UBE2NL	389898	broad.mit.edu	37	X	142967295	142967295	+	Silent	SNP	C	C	T			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chrX:142967295C>T	uc004fca.3	+	0	123	c.93C>T	c.(91-93)aaC>aaT	p.N31N		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	31							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAAAGCAACGCCCGTTATT	0.493												
