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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DMAP1	55929	broad.mit.edu	37	1	44680509	44680509	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:44680509T>G	ENST00000372289.2	+	3	595	c.332T>G	c.(331-333)tTc>tGc	p.F111C	DMAP1_ENST00000315913.5_Missense_Mutation_p.F111C|DMAP1_ENST00000361745.6_Missense_Mutation_p.F111C|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	111					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GGAGCAATGTTCTTCCACTGG	0.572000													6	63					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48591894	48591894	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr18:48591894T>A	ENST00000342988.3	+	9	1595	c.1057T>A	c.(1057-1059)Tac>Aac	p.Y353N	SMAD4_ENST00000398417.2_Missense_Mutation_p.Y353N|SMAD4_ENST00000588745.1_Missense_Mutation_p.Y257N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	353	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTGATGGATACGTGGACCC	0.438000													25	42					0	0	1	0	0
PCDHB7	0	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706000													3	83					6.4e-05	7.23478e-05	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212288967	212288967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:212288967G>A	ENST00000342788.4	-	23	3089	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	ERBB4_ENST00000436443.1_Nonsense_Mutation_p.R927*|ERBB4_ENST00000402597.1_Nonsense_Mutation_p.R917*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	927	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGGATTTCTCGCGTTGGAATT	0.388000										TSP Lung(8;0.080)			16	44					0	0	1	0	0
RPS11	6205	broad.mit.edu	37	19	50002830	50002830	+	Missense_Mutation	SNP	C	C	A	rs11549537		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:50002830C>A	ENST00000270625.2	+	5	498	c.415C>A	c.(415-417)Cgc>Agc	p.R139S	RPS11_ENST00000599561.1_3'UTR|RPS11_ENST00000594493.1_Missense_Mutation_p.R60S	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	139					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CAAGACAGTGCGCTTCAACGT	0.597000													3	66					1	1	1	1	0
NECAP1	25977	broad.mit.edu	37	12	8242592	8242592	+	Silent	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:8242592A>G	ENST00000339754.5	+	2	234	c.156A>G	c.(154-156)aaA>aaG	p.K52K		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	52					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TCACTTCAAAAGGGAAGACTG	0.438000													3	124					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626371	80626371	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr6:80626371A>T	ENST00000369816.4	-	6	1199	c.899T>A	c.(898-900)aTa>aAa	p.I300K		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	300					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TCCATTTTCTATCATGAGTTG	0.358000													18	39					0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69479042	69479042	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chrX:69479042G>A	ENST00000374519.2	-	1	612	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	145					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CGGCCCCAGCGTAGTGCCCGA	0.597000													3	19					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38695932	38695932	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr22:38695932G>A	ENST00000396832.1	-	6	964	c.704C>T	c.(703-705)aCg>aTg	p.T235M	CSNK1E_ENST00000413574.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000400206.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000403904.1_Missense_Mutation_p.T235M|CSNK1E_ENST00000405675.3_Missense_Mutation_p.T235M|CSNK1E_ENST00000359867.3_Missense_Mutation_p.T235M	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	235	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CTCGATGGGCGTTGACATCTT	0.597000													4	180					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132426987	132426987	+	Missense_Mutation	SNP	G	G	A	rs141758444		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr5:132426987G>A	ENST00000304858.2	+	12	1770	c.1481G>A	c.(1480-1482)aGt>aAt	p.S494N		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	494					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGTGTCCAGTGCATCTTTA	0.423000													17	39					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	123					0	0	1	0	0
CTAG2	30848	broad.mit.edu	37	X	153881613	153881613	+	Silent	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chrX:153881613G>A	ENST00000247306.4	-	1	240	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CTAG2_ENST00000369585.3_Silent_p.G59G	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	59	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGCGGGGCGCCTCCTCTCG	0.756000													13	2					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24483975	24483975	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:24483975C>A	ENST00000355123.4	-	22	3125	c.2682G>T	c.(2680-2682)caG>caT	p.Q894H	ITSN2_ENST00000361999.3_Splice_Site_p.Q867H|ITSN2_ENST00000406921.3_Splice_Site_p.Q894H	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	894					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAACATACCTGTCCATGAA	0.343000													3	59					1	1	1	1	0
EDC4	23644	broad.mit.edu	37	16	67909965	67909965	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:67909965G>A	ENST00000358933.5	+	2	439	c.200G>A	c.(199-201)cGg>cAg	p.R67Q		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	67					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACTGGTCTTCGGACCATGCCA	0.532000													33	113					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30961160	30961160	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:30961160C>T	ENST00000295055.8	-	17	1771		c.e17-1		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCTGGAGGTCCTGAGGAGAGA	0.597000													4	42					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277663	140277663	+	Missense_Mutation	SNP	G	G	A	rs137889465		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:140277663G>A	ENST00000458420.3	+	12	2195	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A669T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGCACCTTCGCCAAAACCGA	0.532000										HNSCC(16;0.037)			10	30					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175105	51175105	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:51175105A>G	ENST00000440970.1	-	2	1168	c.737T>C	c.(736-738)aTa>aCa	p.I246T	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.I343T	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	343					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGCTGCCAATATGTTCATATT	0.532000													5	143					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840957	142840957	+	Silent	SNP	C	C	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:142840957C>G	ENST00000309575.3	+	2	2683	c.1299C>G	c.(1297-1299)gtC>gtG	p.V433V		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	433					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGACCCCGTCAAGACACTAC	0.597000													9	24					0	0	1	0	0
MBD6	0	broad.mit.edu	37	12	57918089	57918089	+	Translation_Start_Site	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:57918089G>T	ENST00000355673.3	+	3	359	c.3G>T	c.(1-3)atG>atT	p.M1I	MBD6_ENST00000549231.1_3'UTR|MBD6_ENST00000431731.2_Start_Codon_SNP_p.M1I	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	1						chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TACACACAATGAATGGGGGCA	0.572000													4	80					1.024e-07	1.21018e-07	1	1	0
RP11-556N21.1	0	broad.mit.edu	37	13	25171525	25171525	+	RNA	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr13:25171525G>T	ENST00000453498.1	+	0	1421				TPTE2P6_ENST00000440905.1_RNA																							CTATTCTTAGGCTTTATCTAC	0.353000													7	15					0.00198382	0.00214914	1	1	0
ANGPTL6	83854	broad.mit.edu	37	19	10203390	10203390	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:10203390C>T	ENST00000253109.4	-	6	1526	c.1288G>A	c.(1288-1290)Ggt>Agt	p.G430S	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.G430S|C19orf66_ENST00000253110.11_3'UTR|C19orf66_ENST00000591813.1_3'UTR|C19orf66_ENST00000397881.3_3'UTR|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.G390S	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	430	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			TGCCACACACCGTTGAGGTTG	0.607000													12	33					0	0	1	0	0
LINC00521	0	broad.mit.edu	37	14	94464557	94464557	+	RNA	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr14:94464557A>G	ENST00000444118.1	+	0	237					NR_024182.1																						GGGCTGTGGCAGGAACTCTAC	0.592000													8	61					0	0	1	0	0
IFITM3	10410	broad.mit.edu	37	11	320649	320649	+	Silent	SNP	G	G	A	rs11553885	by1000genomes	TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr11:320649G>A	ENST00000399808.4	-	1	401	c.165C>T	c.(163-165)ccC>ccT	p.P55P	RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Silent_p.P34P	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	55					response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P55P(5)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGACATGGTCGGGCACGGAGG	0.637000													4	123					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40481653	40481653	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:40481653A>C	ENST00000264657.5	-	13	1464	c.1152T>G	c.(1150-1152)ttT>ttG	p.F384L	STAT3_ENST00000389272.3_Missense_Mutation_p.F286L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L|STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	384			F -> L (in AD-HIES).|F -> S (in AD-HIES).		cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCAGAATGTTAAATTTCCGGG	0.458000									Hyperimmunoglobulin E Recurrent Infection Syndrome				3	88					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131650	110131650	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr8:110131650G>T	ENST00000518632.1	+	3	1514	c.1163G>T	c.(1162-1164)tGc>tTc	p.C388F	TRHR_ENST00000311762.2_Missense_Mutation_p.C388F			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	388						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GATGACACCTGCTTGGCTTCT	0.413000													14	60					6.31663e-08	7.63871e-08	1	1	0
GSDMB	55876	broad.mit.edu	37	17	38073351	38073351	+	Silent	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:38073351C>T	ENST00000394175.2	-	1	442	c.219G>A	c.(217-219)ctG>ctA	p.L73L	GSDMB_ENST00000360317.3_Silent_p.L73L|GSDMB_ENST00000394179.1_Silent_p.L73L|GSDMB_ENST00000418519.1_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L|GSDMB_ENST00000309481.7_Silent_p.L73L	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	73						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GCCCAGAATCCAGTTCATCTA	0.507000													7	91					0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80472567	80472567	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr15:80472567G>A	ENST00000539156.1	+	11	3090	c.852G>A	c.(850-852)ccG>ccA	p.P284P	FAH_ENST00000407106.1_Splice_Site_p.P354P|FAH_ENST00000561421.1_Splice_Site_p.P354P|FAH_ENST00000261755.5_Splice_Site_p.P354P			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	354					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAGCGGGCCGGTGAGTATCT	0.637000									Tyrosinemia, type 1				3	39					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119027721	119027721	+	Silent	SNP	T	T	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr11:119027721T>C	ENST00000307417.3	+	9	1429	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P	ABCG4_ENST00000449422.2_Silent_p.P355P|ABCG4_ENST00000531739.1_Silent_p.P355P|AP002956.1_ENST00000599663.1_Intron	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	355					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCCTTGTCCTCCGGTGAGTA	0.607000													3	107					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237813234	237813234	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:237813234G>A	ENST00000366574.2	+	50	7887	c.7570G>A	c.(7570-7572)Gtc>Atc	p.V2524I	RYR2_ENST00000542537.1_Missense_Mutation_p.V2508I|RYR2_ENST00000360064.6_Missense_Mutation_p.V2522I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2524	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCACAGCCGTCTTGCCATT	0.463000													48	105					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397205	57397205	+	Silent	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:57397205C>T	ENST00000300101.2	-	2	1582	c.1497G>A	c.(1495-1497)acG>acA	p.T499T		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GATGGGACAGCGTGTGCCACA	0.557000													3	14					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8874814	8874814	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:8874814A>C	ENST00000256707.3	-	28	3968	c.3787T>G	c.(3787-3789)Ttt>Gtt	p.F1263V	KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1263					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTCTCCAAAATTCATATTC	0.299000													19	26					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32429723	32429723	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:32429723T>C	ENST00000282587.5	+	11	767	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y215H|SLC30A6_ENST00000357055.3_Missense_Mutation_p.Y47H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	244						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGGCACTATGTATCCCATGAG	0.358000													21	52					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63170373	63170373	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr10:63170373G>A	ENST00000399298.3	-	6	1182	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	272						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGTATGAGACGCACGACAAGG	0.502000													4	46					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748890	126748890	+	Silent	SNP	C	C	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:126748890C>A	ENST00000393409.2	+	27	5044	c.5044C>A	c.(5044-5046)Cgg>Agg	p.R1682R	PLXNA1_ENST00000251772.4_Silent_p.R1659R	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1682					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTACTTGACACGGCTACTGGC	0.637000													3	95					0.115264	0.119875	1	1	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													4	28					0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987657	15987657	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:15987657A>G	ENST00000345034.1	+	1	1294	c.1294A>G	c.(1294-1296)Act>Gct	p.T432A	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	432					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTAACAGGTACTTCATCTGA	0.438000													13	25					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr20:46279830G>A	ENST00000372004.3	+	20	3960	c.3744G>A	c.(3742-3744)caG>caA	p.Q1248Q	NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000371997.3_Silent_p.Q1243Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547000													3	21					0	0	1	0	0
NT5M	56953	broad.mit.edu	37	17	17250219	17250219	+	Silent	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:17250219G>A	ENST00000389022.4	+	5	861	c.645G>A	c.(643-645)gcG>gcA	p.A215A	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	215					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						ACTCGTGGGCGGACGACTGGA	0.692000													3	62					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506671	27506671	+	Silent	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:27506671C>T	ENST00000356183.4	-	15	2508	c.2493G>A	c.(2491-2493)acG>acA	p.T831T	GTF3C1_ENST00000561623.1_Silent_p.T831T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	831						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTGCTTTATCGTTCTCCGTT	0.602000													5	45					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981685	7981685	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr11:7981685G>A	ENST00000328600.2	-	2	1635	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	492							ATP binding	p.R492C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTTCTCTGCGGGACTCCTTC	0.498000													31	60					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTCGAAGCGCTCACGCCCA	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	30					0	0	1	0	0
DMAP1	55929	broad.mit.edu	37	1	44680509	44680509	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr1:44680509T>G	ENST00000372289.2	+	3	595	c.332T>G	c.(331-333)tTc>tGc	p.F111C	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.F111C|DMAP1_ENST00000361745.6_Missense_Mutation_p.F111C	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	111					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GGAGCAATGTTCTTCCACTGG	0.572000													6	63					0	0	1	0	0
PCDHB7	0	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706000													3	83					6.4e-05	7.11111e-05	1	1	0
ERBB4	2066	broad.mit.edu	37	2	212288967	212288967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr2:212288967G>A	ENST00000342788.4	-	23	3089	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.R917*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.R927*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	927	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGGATTTCTCGCGTTGGAATT	0.388000										TSP Lung(8;0.080)			16	44					0	0	1	0	0
RPS11	6205	broad.mit.edu	37	19	50002830	50002830	+	Missense_Mutation	SNP	C	C	A	rs11549537		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr19:50002830C>A	ENST00000270625.2	+	5	498	c.415C>A	c.(415-417)Cgc>Agc	p.R139S	RPS11_ENST00000594493.1_Missense_Mutation_p.R60S|RPS11_ENST00000599561.1_3'UTR	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	139					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CAAGACAGTGCGCTTCAACGT	0.597000													3	66					1	1	1	1	0
NECAP1	25977	broad.mit.edu	37	12	8242592	8242592	+	Silent	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr12:8242592A>G	ENST00000339754.5	+	2	234	c.156A>G	c.(154-156)aaA>aaG	p.K52K		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	52					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TCACTTCAAAAGGGAAGACTG	0.438000													3	124					0	0	1	0	0
ELOVL4	6785	broad.mit.edu	37	6	80626371	80626371	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr6:80626371A>T	ENST00000369816.4	-	6	1199	c.899T>A	c.(898-900)aTa>aAa	p.I300K		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	300					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TCCATTTTCTATCATGAGTTG	0.358000													18	39					0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69479042	69479042	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chrX:69479042G>A	ENST00000374519.2	-	1	612	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	145					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CGGCCCCAGCGTAGTGCCCGA	0.597000													3	19					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38695932	38695932	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr22:38695932G>A	ENST00000396832.1	-	6	964	c.704C>T	c.(703-705)aCg>aTg	p.T235M	CSNK1E_ENST00000400206.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000405675.3_Missense_Mutation_p.T235M|CSNK1E_ENST00000413574.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000403904.1_Missense_Mutation_p.T235M|CSNK1E_ENST00000359867.3_Missense_Mutation_p.T235M	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	235	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CTCGATGGGCGTTGACATCTT	0.597000													4	180					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132426987	132426987	+	Missense_Mutation	SNP	G	G	A	rs141758444		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr5:132426987G>A	ENST00000304858.2	+	12	1770	c.1481G>A	c.(1480-1482)aGt>aAt	p.S494N		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	494					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGTGTCCAGTGCATCTTTA	0.423000													17	39					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40481653	40481653	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr17:40481653A>C	ENST00000264657.5	-	13	1464	c.1152T>G	c.(1150-1152)ttT>ttG	p.F384L	STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L|STAT3_ENST00000389272.3_Missense_Mutation_p.F286L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	384			F -> L (in AD-HIES).|F -> S (in AD-HIES).		cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCAGAATGTTAAATTTCCGGG	0.458000									Hyperimmunoglobulin E Recurrent Infection Syndrome				3	88					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24483975	24483975	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr2:24483975C>A	ENST00000355123.4	-	22	3125	c.2682G>T	c.(2680-2682)caG>caT	p.Q894H	ITSN2_ENST00000406921.3_Splice_Site_p.Q894H|ITSN2_ENST00000361999.3_Splice_Site_p.Q867H	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	894					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAACATACCTGTCCATGAA	0.343000													3	59					1	1	1	1	0
EDC4	23644	broad.mit.edu	37	16	67909965	67909965	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr16:67909965G>A	ENST00000358933.5	+	2	439	c.200G>A	c.(199-201)cGg>cAg	p.R67Q		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	67					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACTGGTCTTCGGACCATGCCA	0.532000													33	113					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30961160	30961160	+	Splice_Site	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr2:30961160C>T	ENST00000295055.8	-	17	1771		c.e17-1		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCTGGAGGTCCTGAGGAGAGA	0.597000													4	42					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277663	140277663	+	Missense_Mutation	SNP	G	G	A	rs137889465		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr3:140277663G>A	ENST00000458420.3	+	12	2195	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A669T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGCACCTTCGCCAAAACCGA	0.532000										HNSCC(16;0.037)			10	30					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284000													4	65					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175105	51175105	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr16:51175105A>G	ENST00000440970.1	-	2	1168	c.737T>C	c.(736-738)aTa>aCa	p.I246T	SALL1_ENST00000251020.4_Missense_Mutation_p.I343T|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	343					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGCTGCCAATATGTTCATATT	0.532000													5	143					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840957	142840957	+	Silent	SNP	C	C	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr3:142840957C>G	ENST00000309575.3	+	2	2683	c.1299C>G	c.(1297-1299)gtC>gtG	p.V433V		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	433					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGACCCCGTCAAGACACTAC	0.597000													9	24					0	0	1	0	0
MBD6	0	broad.mit.edu	37	12	57918089	57918089	+	Translation_Start_Site	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr12:57918089G>T	ENST00000355673.3	+	3	359	c.3G>T	c.(1-3)atG>atT	p.M1I	MBD6_ENST00000549231.1_3'UTR|MBD6_ENST00000431731.2_Start_Codon_SNP_p.M1I	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	1						chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TACACACAATGAATGGGGGCA	0.572000													4	80					1.024e-07	1.16364e-07	1	1	0
RP11-556N21.1	0	broad.mit.edu	37	13	25171525	25171525	+	RNA	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr13:25171525G>T	ENST00000453498.1	+	0	1421				TPTE2P6_ENST00000440905.1_RNA																							CTATTCTTAGGCTTTATCTAC	0.353000													7	15					0.00198382	0.00215632	1	1	0
ANGPTL6	83854	broad.mit.edu	37	19	10203390	10203390	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr19:10203390C>T	ENST00000253109.4	-	6	1526	c.1288G>A	c.(1288-1290)Ggt>Agt	p.G430S	C19orf66_ENST00000397881.3_3'UTR|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.G430S|C19orf66_ENST00000253110.11_3'UTR|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.G390S|C19orf66_ENST00000591813.1_3'UTR	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	430	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			TGCCACACACCGTTGAGGTTG	0.607000													12	33					0	0	1	0	0
LINC00521	0	broad.mit.edu	37	14	94464557	94464557	+	RNA	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr14:94464557A>G	ENST00000444118.1	+	0	237					NR_024182.1																						GGGCTGTGGCAGGAACTCTAC	0.592000													8	61					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284000													4	67					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131650	110131650	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr8:110131650G>T	ENST00000518632.1	+	3	1514	c.1163G>T	c.(1162-1164)tGc>tTc	p.C388F	TRHR_ENST00000311762.2_Missense_Mutation_p.C388F			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	388						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GATGACACCTGCTTGGCTTCT	0.413000													14	60					6.31663e-08	7.34491e-08	1	1	0
FAH	2184	broad.mit.edu	37	15	80472567	80472567	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr15:80472567G>A	ENST00000539156.1	+	11	3090	c.852G>A	c.(850-852)ccG>ccA	p.P284P	FAH_ENST00000261755.5_Splice_Site_p.P354P|FAH_ENST00000407106.1_Splice_Site_p.P354P|FAH_ENST00000561421.1_Splice_Site_p.P354P			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	354					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAGCGGGCCGGTGAGTATCT	0.637000									Tyrosinemia, type 1				3	39					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48591894	48591894	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr18:48591894T>A	ENST00000342988.3	+	9	1595	c.1057T>A	c.(1057-1059)Tac>Aac	p.Y353N	SMAD4_ENST00000398417.2_Missense_Mutation_p.Y353N|SMAD4_ENST00000588745.1_Missense_Mutation_p.Y257N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	353	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTGATGGATACGTGGACCC	0.438000													25	42					0	0	1	0	0
MTFR1	9650	broad.mit.edu	37	8	66619312	66619312	+	Silent	SNP	T	T	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr8:66619312T>C	ENST00000262146.4	+	6	711	c.585T>C	c.(583-585)ccT>ccC	p.P195P	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.P162P	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	195	Pro-rich.					mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			CGCCCCTGCCTCCCCCTGCAC	0.478000													3	103					0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38073351	38073351	+	Silent	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr17:38073351C>T	ENST00000394175.2	-	1	442	c.219G>A	c.(217-219)ctG>ctA	p.L73L	GSDMB_ENST00000418519.1_Silent_p.L73L|GSDMB_ENST00000309481.7_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L|GSDMB_ENST00000394179.1_Silent_p.L73L|GSDMB_ENST00000360317.3_Silent_p.L73L	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	73						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GCCCAGAATCCAGTTCATCTA	0.507000													7	91					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119027721	119027721	+	Silent	SNP	T	T	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr11:119027721T>C	ENST00000307417.3	+	9	1429	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P	ABCG4_ENST00000531739.1_Silent_p.P355P|AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000449422.2_Silent_p.P355P	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	355					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCCTTGTCCTCCGGTGAGTA	0.607000													3	107					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237813234	237813234	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr1:237813234G>A	ENST00000366574.2	+	50	7887	c.7570G>A	c.(7570-7572)Gtc>Atc	p.V2524I	RYR2_ENST00000542537.1_Missense_Mutation_p.V2508I|RYR2_ENST00000360064.6_Missense_Mutation_p.V2522I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2524	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCACAGCCGTCTTGCCATT	0.463000													48	105					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397205	57397205	+	Silent	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr12:57397205C>T	ENST00000300101.2	-	2	1582	c.1497G>A	c.(1495-1497)acG>acA	p.T499T		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GATGGGACAGCGTGTGCCACA	0.557000													3	14					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8874814	8874814	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr2:8874814A>C	ENST00000256707.3	-	28	3968	c.3787T>G	c.(3787-3789)Ttt>Gtt	p.F1263V	KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1263					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTCTCCAAAATTCATATTC	0.299000													19	26					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32429723	32429723	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr2:32429723T>C	ENST00000282587.5	+	11	767	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H|SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H|SLC30A6_ENST00000357055.3_Missense_Mutation_p.Y47H|SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y215H	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	244						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGGCACTATGTATCCCATGAG	0.358000													21	52					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63170373	63170373	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr10:63170373G>A	ENST00000399298.3	-	6	1182	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	272						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGTATGAGACGCACGACAAGG	0.502000													4	46					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126748890	126748890	+	Silent	SNP	C	C	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr3:126748890C>A	ENST00000251772.4	+	27	5044	c.4975C>A	c.(4975-4977)Cgg>Agg	p.R1659R	PLXNA1_ENST00000393409.2_Silent_p.R1682R			Q9UIW2	PLXA1_HUMAN	plexin A1	1682					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTACTTGACACGGCTACTGGC	0.637000													3	95					0.115264	0.120067	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27506671	27506671	+	Silent	SNP	C	C	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr16:27506671C>T	ENST00000356183.4	-	15	2508	c.2493G>A	c.(2491-2493)acG>acA	p.T831T	GTF3C1_ENST00000561623.1_Silent_p.T831T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	831						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTGCTTTATCGTTCTCCGTT	0.602000													5	45					0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15987657	15987657	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr1:15987657A>G	ENST00000345034.1	+	1	1294	c.1294A>G	c.(1294-1296)Act>Gct	p.T432A	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	432					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTAACAGGTACTTCATCTGA	0.438000													13	25					0	0	1	0	0
NT5M	56953	broad.mit.edu	37	17	17250219	17250219	+	Silent	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr17:17250219G>A	ENST00000389022.4	+	5	861	c.645G>A	c.(643-645)gcG>gcA	p.A215A	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	215					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						ACTCGTGGGCGGACGACTGGA	0.692000													3	62					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs116382006	by1000genomes	TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA																							TGGGACTGAGAGGCAAGATTT	0.438000													3	71					0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981685	7981685	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr11:7981685G>A	ENST00000328600.2	-	2	1635	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	492							ATP binding	p.R492C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTTCTCTGCGGGACTCCTTC	0.498000													31	60					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTCGAAGCGCTCACGCCCA	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	30					0	0	1	0	0
RP13-221M14.3	0	broad.mit.edu	37	1	13164130	13164131	+	RNA	INS	-	-	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:13164130_13164131insA	ENST00000434606.1	-	0	284																											TTTACTGTAACAAAAAAAAAAG	0.515													2	4	---	---	---	---					
AC008268.2	0	broad.mit.edu	37	2	96459692	96459692	+	RNA	DEL	G	G	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:96459692delG	ENST00000471661.1	+	0	491																											AAGGCTTCTAGAGCATGAGCT	0.567													2	4	---	---	---	---					
GBE1	2632	broad.mit.edu	37	3	81627235	81627235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:81627235delC	ENST00000429644.2	-	12	2102	c.1459delG	c.(1459-1461)gatfs	p.D487fs	GBE1_ENST00000489715.1_Frame_Shift_Del_p.D446fs	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	487					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AGCGACTTATCCCCAACCAAT	0.363									Glycogen Storage Disease, type IV				2	4	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	GGC	rs67907220		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr4:147560457_147560458insGGC	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(166-168)ggc>GGCggc	p.56_56G>GG	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	56	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													4	5	---	---	---	---					
EFR3A	23167	broad.mit.edu	37	8	132999828	132999828	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr8:132999828delA	ENST00000254624.5	+	18	2169	c.1944delA	c.(1942-1944)ccafs	p.P648fs	EFR3A_ENST00000334503.4_Frame_Shift_Del_p.P648fs|EFR3A_ENST00000519656.1_Frame_Shift_Del_p.P612fs	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	648						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCAGGCTTCCAAAATCTTTAG	0.358													2	4	---	---	---	---					
CREB3	10488	broad.mit.edu	37	9	35736505	35736506	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr9:35736505_35736506delTG	ENST00000353704.2	+	9	1336_1337	c.898_899delTG	c.(898-900)tgtfs	p.C300fs	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	324					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CGGCTCAGACTGTGTACTCCAG	0.614											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	129	---	---	---	---					
RP11-579D7.4	0	broad.mit.edu	37	12	49183367	49183367	+	RNA	DEL	G	G	-	rs10711161		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:49183367delG	ENST00000549864.1	+	0	9																											ccctgccccagccccagcccc	0.657													4	3	---	---	---	---					
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	-	AAGCCGCTGCCACCTCCA	rs35124031		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	ENST00000309680.3	-	1	344_345	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)ttc>ttTGGAGGTGGCAGCGGCTTc	p.108_108F>FGGGSGF		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	108	Head.			F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946).	keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.629													2	4	---	---	---	---					
PIAS4	51588	broad.mit.edu	37	19	4037775	4037777	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:4037775_4037777delGAG	ENST00000262971.2	+	11	1550_1552	c.1435_1437delGAG	c.(1435-1437)gagdel	p.E487del		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	487	Asp/Glu-rich (acidic).				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCggaggatgaggaggaggagg	0.700													4	4	---	---	---	---					
HDGFRP2	0	broad.mit.edu	37	19	4493799	4493801	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:4493799_4493801delTCC	ENST00000301284.4	+	7	842_844	c.778_780delTCC	c.(778-780)tccdel	p.S264del	HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		264	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										ctcctcctcttcctcctcctcct	0.675													3	6	---	---	---	---					
TTLL12	23170	broad.mit.edu	37	22	43578990	43578991	+	Frame_Shift_Ins	INS	-	-	G	rs34872708		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr22:43578990_43578991insG	ENST00000216129.6	-	2	405_406	c.342_343insC	c.(340-345)cccaacfs	p.N115fs		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	115					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCCTACCTGTTGGGGTGGGCTG	0.639													18	32	---	---	---	---					
RP13-221M14.3	0	broad.mit.edu	37	1	13164130	13164131	+	RNA	INS	-	-	A			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr1:13164130_13164131insA	ENST00000434606.1	-	0	284																											TTTACTGTAACAAAAAAAAAAG	0.515													2	4	---	---	---	---					
GBE1	2632	broad.mit.edu	37	3	81627235	81627235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr3:81627235delC	ENST00000429644.2	-	12	2102	c.1459delG	c.(1459-1461)gatfs	p.D487fs	GBE1_ENST00000489715.1_Frame_Shift_Del_p.D446fs	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	487					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AGCGACTTATCCCCAACCAAT	0.363									Glycogen Storage Disease, type IV				2	4	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													6	5	---	---	---	---					
TRGV3	0	broad.mit.edu	37	7	38398480	38398481	+	RNA	INS	-	-	AA	rs3056123		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr7:38398480_38398481insAA	ENST00000390346.2	-	0	226																											GCACCCCTTTCAAGAAGAAAAC	0.480													10	21	---	---	---	---					
EFR3A	23167	broad.mit.edu	37	8	132999828	132999828	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr8:132999828delA	ENST00000254624.5	+	18	2169	c.1944delA	c.(1942-1944)ccafs	p.P648fs	EFR3A_ENST00000334503.4_Frame_Shift_Del_p.P648fs|EFR3A_ENST00000519656.1_Frame_Shift_Del_p.P612fs	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	648						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCAGGCTTCCAAAATCTTTAG	0.358													2	4	---	---	---	---					
CREB3	10488	broad.mit.edu	37	9	35736505	35736506	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr9:35736505_35736506delTG	ENST00000353704.2	+	9	1336_1337	c.898_899delTG	c.(898-900)tgtfs	p.C300fs	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	324					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CGGCTCAGACTGTGTACTCCAG	0.614											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	129	---	---	---	---					
C9orf114	51490	broad.mit.edu	37	9	131591119	131591120	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr9:131591119_131591120insT	ENST00000361256.5	-	3	142_143	c.102_103insA	c.(100-105)aaatggfs	p.W35fs		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	35										kidney(2)|large_intestine(4)|ovary(1)	7						AGATCCTTCCATTTTTTTTTCT	0.525													10	112	---	---	---	---					
PIAS4	51588	broad.mit.edu	37	19	4037775	4037777	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr19:4037775_4037777delGAG	ENST00000262971.2	+	11	1550_1552	c.1435_1437delGAG	c.(1435-1437)gagdel	p.E487del		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	487	Asp/Glu-rich (acidic).				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCggaggatgaggaggaggagg	0.700													4	4	---	---	---	---					
HDGFRP2	0	broad.mit.edu	37	19	4493799	4493801	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr19:4493799_4493801delTCC	ENST00000301284.4	+	7	842_844	c.778_780delTCC	c.(778-780)tccdel	p.S264del	HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		264	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										ctcctcctcttcctcctcctcct	0.675													3	6	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11056763	11056763	+	RNA	DEL	T	T	-	rs2838178		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr21:11056763delT	ENST00000470054.1	-	0	487									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATTGAGTAATAAAATGTTCC	0.299													5	3	---	---	---	---					
TTLL12	23170	broad.mit.edu	37	22	43578990	43578991	+	Frame_Shift_Ins	INS	-	-	G	rs34872708		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr22:43578990_43578991insG	ENST00000216129.6	-	2	405_406	c.342_343insC	c.(340-345)cccaacfs	p.N115fs		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	115					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCCTACCTGTTGGGGTGGGCTG	0.639													18	32	---	---	---	---					
