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
PSG7	5676	broad.mit.edu	37	19	43433784	43433784	+	RNA	SNP	A	A	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:43433784A>G	ENST00000406070.2	-	0	615				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTGCATCTGGAGTCTCAGGAT	0.527000													98	230					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10388838	10388838	+	Silent	SNP	C	C	T	rs35035741		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr8:10388838C>T	ENST00000328655.3	+	3	421	c.381C>T	c.(379-381)aaC>aaT	p.N127N	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.N127N	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	127	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.N127N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGGGGACCAACGACTTAACTA	0.507000													31	104					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35107992	35107992	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:35107992C>T	ENST00000378561.1	-	2	3335	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	FAM214B_ENST00000605244.1_Missense_Mutation_p.E94K|FAM214B_ENST00000378554.2_Missense_Mutation_p.E94K|FAM214B_ENST00000488109.2_Missense_Mutation_p.E94K|FAM214B_ENST00000378557.1_Missense_Mutation_p.E94K|FAM214B_ENST00000603301.1_Missense_Mutation_p.E94K|FAM214B_ENST00000322813.5_Missense_Mutation_p.E94K|FAM214B_ENST00000378566.1_Intron			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	94						nucleus											GATGGTTCTTCAGGGGGTAGT	0.637000													21	40					0	0	1	0	0
USP29	0	broad.mit.edu	37	19	57642572	57642572	+	Silent	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:57642572C>T	ENST00000254181.4	+	4	2983	c.2529C>T	c.(2527-2529)agC>agT	p.S843S	USP29_ENST00000598197.1_Silent_p.S843S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	843					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTACATCAGCGATGTGTATG	0.483000													26	35					0	0	1	0	0
JTB	10899	broad.mit.edu	37	1	153947216	153947216	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:153947216C>T	ENST00000271843.4	-	5	815	c.380G>A	c.(379-381)cGt>cAt	p.R127H	JTB_ENST00000368589.1_Missense_Mutation_p.R98H|JTB_ENST00000356648.1_Missense_Mutation_p.R98H	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	127					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTGTCGCTGACGAATGATGAC	0.498000													26	43					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99871554	99871554	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:99871554G>A	ENST00000331768.5	-	10	1238	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	360					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GGGGATGCCGGCACGAGCCAA	0.428000													4	174					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35724224	35724224	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:35724224G>A	ENST00000314888.9	-	6	972	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	TLN1_ENST00000540444.1_Missense_Mutation_p.R207W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	207	FERM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACAGGGTCCCGGGAATCCACA	0.587000													3	46					0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56873645	56873645	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr12:56873645A>C	ENST00000311966.4	-	3	601	c.323T>G	c.(322-324)cTc>cGc	p.L108R	GLS2_ENST00000539272.1_Missense_Mutation_p.L108R	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	108					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCAGTCTCGGAGCCGAGGATC	0.537000													9	30					0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4352564	4352564	+	Missense_Mutation	SNP	G	G	A	rs147966930	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:4352564G>A	ENST00000355530.2	+	7	1085	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Missense_Mutation_p.A142T	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	269					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGGAGTGACCGCCATGGCCTT	0.657000													19	90					0	0	1	0	0
EQTN	54586	broad.mit.edu	37	9	27284733	27284733	+	Silent	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:27284733C>T	ENST00000380032.3	-	8	956	c.873G>A	c.(871-873)tcG>tcA	p.S291S	EQTN_ENST00000537675.1_Silent_p.S262S	NM_020641.2	NP_065692.2			equatorin, sperm acrosome associated									p.S291S(1)									ACCGGGTAACCGACTCATCGT	0.353000													31	19					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43772556	43772556	+	Missense_Mutation	SNP	G	G	A	rs150406982		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:43772556G>A	ENST00000372476.3	+	4	609	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	TIE1_ENST00000538015.1_Missense_Mutation_p.R177Q|TIE1_ENST00000441333.2_Missense_Mutation_p.R177Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	177					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGGATGGGCGGTTCCTGCTG	0.602000													28	49					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91727520	91727520	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:91727520G>T	ENST00000359028.2	+	43	10942	c.10717G>T	c.(10717-10719)Ggt>Tgt	p.G3573C	AKAP9_ENST00000358100.2_Missense_Mutation_p.G3519C|AKAP9_ENST00000356239.3_Missense_Mutation_p.G3569C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3573					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGCCAGCAAGGTGAAGAGGT	0.303000			T	BRAF	papillary thyroid								11	49					0.000978159	0.00099298	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77415326	77415326	+	Silent	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:77415326C>T	ENST00000451710.3	-	17	2319	c.2082G>A	c.(2080-2082)ctG>ctA	p.L694L	TRPM6_ENST00000449912.2_Silent_p.L689L|TRPM6_ENST00000376864.4_Silent_p.L694L|TRPM6_ENST00000361255.3_Silent_p.L689L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Silent_p.L694L|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	694					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATACGTCAACAGCGTCATGG	0.507000													16	37					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42166858	42166858	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr22:42166858G>A	ENST00000401548.3	+	20	2477	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	MEI1_ENST00000540880.1_Missense_Mutation_p.E131K|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.E181K	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	813							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAGCAGCTATGAGGAACTGGA	0.542000													23	43					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160692107	160692107	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:160692107C>T	ENST00000263636.4	-	26	3584	c.3557G>A	c.(3556-3558)cGc>cAc	p.R1186H	LY75_ENST00000553424.1_Missense_Mutation_p.R1186H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1186H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1186H|LY75_ENST00000554112.1_Missense_Mutation_p.R1186H	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTCAGCCCAGCGACTAAAATG	0.413000													20	32					0	0	1	0	0
KLK5	25818	broad.mit.edu	37	19	51453167	51453167	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:51453167G>A	ENST00000336334.3	-	3	631	c.279C>T	c.(277-279)tgC>tgT	p.C93C	KLK5_ENST00000391809.2_Silent_p.C93C|KLK5_ENST00000593428.1_Silent_p.C93C	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	93	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ACACCGCCCCGCAGTAGAGCT	0.627000													16	30					0	0	1	0	0
AC006293.3	0	broad.mit.edu	37	19	55221848	55221848	+	RNA	SNP	A	A	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:55221848A>G	ENST00000413439.1	+	0	1415																											TCAGCTCAGAACGAGGTGGGG	0.637000													7	30					0	0	1	0	0
MKRN1	23608	broad.mit.edu	37	7	140154464	140154464	+	Silent	SNP	G	G	A	rs147839699	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:140154464G>A	ENST00000255977.2	-	8	1526	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	MKRN1_ENST00000474576.1_Silent_p.N370N|MKRN1_ENST00000437223.2_Silent_p.N168N	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	434							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTTCTTCATCGTTGTCAAAGG	0.498000													16	41					0	0	1	0	0
AC006293.3	0	broad.mit.edu	37	19	55221850	55221850	+	RNA	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:55221850G>A	ENST00000413439.1	+	0	1415																											AGCTCAGAACGAGGTGGGGCA	0.637000													7	33					0	0	1	0	0
CA14	23632	broad.mit.edu	37	1	150234987	150234987	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:150234987C>A	ENST00000369111.4	+	5	1433	c.463C>A	c.(463-465)Cag>Aag	p.Q155K		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	155						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGAGGCCTCAGGGCCTGGC	0.498000													40	59					3.38236e-24	3.71505e-24	1	1	0
AGBL5	60509	broad.mit.edu	37	2	27278663	27278663	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:27278663G>A	ENST00000360131.4	+	7	1181	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	AGBL5_ENST00000323064.8_Missense_Mutation_p.R341H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	341					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCACTCTCGTCTGAACTCC	0.542000													24	42					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28598767	28598767	+	Splice_Site	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:28598767C>T	ENST00000434452.1	-	8	1097		c.e8-1		DSC3_ENST00000360428.4_Splice_Site	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3						homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTCTACAACCTGGAAACAAA	0.333000													16	36					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101370258	101370258	+	Missense_Mutation	SNP	T	T	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr3:101370258T>G	ENST00000312938.4	-	11	3494	c.2914A>C	c.(2914-2916)Atg>Ctg	p.M972L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGTTCCTGCATGCCTGCTGTT	0.448000													40	88					0	0	1	0	0
TRAT1	50852	broad.mit.edu	37	3	108549621	108549621	+	Nonsense_Mutation	SNP	C	C	T	rs148894492		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr3:108549621C>T	ENST00000295756.6	+	2	342	c.112C>T	c.(112-114)Cga>Tga	p.R38*	TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	38					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGAAAAGCAACGACAAGGTAA	0.418000													24	42					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52535572	52535572	+	Silent	SNP	G	G	C			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:52535572G>C	ENST00000216286.5	-	1	140	c.141C>G	c.(139-141)ctC>ctG	p.L47L	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	47						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTCCTGCAGGAGCTGGTCCC	0.622000													22	45					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452366	234452366	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:234452366G>A	ENST00000366618.3	+	5	992	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	SLC35F3_ENST00000366617.3_Missense_Mutation_p.A214T	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	214					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGCCATCCTCGCCATCGCTGG	0.577000													165	221					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103138353	103138353	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:103138353C>T	ENST00000428762.1	-	55	9023	c.8864G>A	c.(8863-8865)cGc>cAc	p.R2955H	RELN_ENST00000343529.5_Missense_Mutation_p.R2955H|RELN_ENST00000424685.2_Missense_Mutation_p.R2955H|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2955					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTACCGATGCGCCCCCAGTA	0.473000													13	45					0	0	1	0	0
MIR543	0	broad.mit.edu	37	14	101498379	101498379	+	RNA	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:101498379C>T	ENST00000390751.1	+	0	56					NR_030619.1																						GAAACATTCGCGGTGCACTTC	0.498000													16	29					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10248578	10248578	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:10248578C>T	ENST00000418404.3	-	14	1688	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	MYH13_ENST00000570743.1_Missense_Mutation_p.E509K|MYH13_ENST00000252172.4_Missense_Mutation_p.E509K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	509	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AACTCCCACTCGATGCCTTCC	0.512000													38	64					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7710584	7710584	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:7710584G>A	ENST00000572933.1	+	62	11019	c.9559G>A	c.(9559-9561)Ggc>Agc	p.G3187S	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3187S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3187	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATATCATCGGCCGCGTCTC	0.587000													41	65					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575967	52575967	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr10:52575967G>A	ENST00000395489.2	-	11	1315	c.919C>T	c.(919-921)Cga>Tga	p.R307*	ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Nonsense_Mutation_p.R314*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.R314*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.R322*|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373997.3_Nonsense_Mutation_p.R314*|A1CF_ENST00000395495.1_Nonsense_Mutation_p.R259*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.R314*	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	314					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTGTGCCTCGGGTATACCTA	0.493000													10	12					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:245862232G>A	ENST00000366518.4	+	11	5032	c.4928G>A	c.(4927-4929)cGc>cAc	p.R1643H	KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024H			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572000													17	31					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117638325	117638325	+	Missense_Mutation	SNP	C	C	T	rs3752566	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:117638325C>T	ENST00000368508.3	-	38	6314	c.6116G>A	c.(6115-6117)cGt>cAt	p.R2039H	ROS1_ENST00000368507.3_Missense_Mutation_p.R2033H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2039	Protein kinase.		R -> H (in dbSNP:rs3752566).		transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCGGGCTTTACGCAAATAAGT	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								22	44					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2375141	2375141	+	Silent	SNP	C	C	T	rs147506152	by1000genomes	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr20:2375141C>T	ENST00000202625.2	+	2	112	c.51C>T	c.(49-51)ggC>ggT	p.G17G	TGM6_ENST00000381423.1_Silent_p.G17G|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	17					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G17G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGAGGAATGGCGCTGCCCACC	0.647000													20	19					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024191	71024191	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:71024191G>A	ENST00000344526.5	+	3	411	c.222G>A	c.(220-222)tcG>tcA	p.S74S	C4orf40_ENST00000502294.1_Silent_p.S74S|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	74						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGTTACCTTCGTATCCCTGGA	0.473000													61	103					0	0	1	0	0
CLEC9A	283420	broad.mit.edu	37	12	10218182	10218182	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr12:10218182C>T	ENST00000355819.1	+	9	1290	c.677C>T	c.(676-678)aCg>aTg	p.T226M		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	226	C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AACTGCAGCACGTGGAAGTAT	0.423000													31	55					0	0	1	0	0
PLCXD1	55344	broad.mit.edu	37	X	209794	209794	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:209794G>A	ENST00000381657.2	+	6	1156	c.642G>A	c.(640-642)ctG>ctA	p.L214L	PLCXD1_ENST00000399012.1_Silent_p.L214L|PLCXD1_ENST00000381663.3_Silent_p.L214L	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	214					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCACGAGCTGTGGCCAGGAG	0.637000													19	31					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6985310	6985310	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:6985310C>A	ENST00000389658.3	-	39	5679	c.5586G>T	c.(5584-5586)agG>agT	p.R1862S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1862	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGACTGCGTTCCTTTGGGACA	0.502000													26	43					6.32553e-13	6.72715e-13	1	1	0
CLIC3	9022	broad.mit.edu	37	9	139889191	139889191	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:139889191G>A	ENST00000494426.1	-	6	912	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	218	GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGCGGACACGTGTATTTGAA	0.682000													6	8					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103629745	103629745	+	Missense_Mutation	SNP	G	G	A	rs145135688	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:103629745G>A	ENST00000424685.2	-	1	218	c.59C>T	c.(58-60)aCg>aTg	p.T20M	RELN_ENST00000428762.1_Missense_Mutation_p.T20M|RELN_ENST00000343529.5_Missense_Mutation_p.T20M			P78509	RELN_HUMAN	reelin	20					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGCCCTCAGCGTCGCCCCCAG	0.736000													13	36					0	0	1	0	0
TRDV1	0	broad.mit.edu	37	14	22564832	22564832	+	RNA	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:22564832G>A	ENST00000390452.2	+	0	301																											GAAATCCGTCGCCTTAACCAT	0.408000													18	36					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135290403	135290403	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:135290403G>A	ENST00000367837.5	-	16	2077	c.1871C>T	c.(1870-1872)aCg>aTg	p.T624M	HBS1L_ENST00000415177.2_Missense_Mutation_p.T559M|HBS1L_ENST00000445176.2_Missense_Mutation_p.T348M|HBS1L_ENST00000527578.1_Missense_Mutation_p.T460M|HBS1L_ENST00000367824.4_Missense_Mutation_p.T460M|HBS1L_ENST00000367826.2_Missense_Mutation_p.T582M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	624					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GACTTCACCCGTGCTTTTGTT	0.318000													3	40					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94038132	94038132	+	Silent	SNP	C	C	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:94038132C>T	ENST00000297268.6	+	16	1260	c.789C>T	c.(787-789)ccC>ccT	p.P263P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	263					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.P263P(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCCTGGCCCCAAGGTAAAAA	0.433000										HNSCC(75;0.22)			11	54					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156144877	156144877	+	Splice_Site	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:156144877G>A	ENST00000368285.3	+	13	1702	c.1434_splice	c.e13-1	p.G479_splice	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Splice_Site_p.G347_splice|SEMA4A_ENST00000368282.1_Splice_Site_p.G479_splice|SEMA4A_ENST00000355014.2_Splice_Site_p.G479_splice|SEMA4A_ENST00000368284.1_Splice_Site_p.G347_splice	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	479	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTCTTCCAGGGTGCAGTGTT	0.607000													46	85					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24936025	24936025	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr11:24936025A>G	ENST00000533227.1	+	7	492	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	LUZP2_ENST00000336930.6_Missense_Mutation_p.K155E	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	155						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTACAGTCAAAAAAAATCCA	0.348000													18	24					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51013239	51013239	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:51013239G>A	ENST00000442544.2	+	26	4425	c.3809G>A	c.(3808-3810)tGt>tAt	p.C1270Y	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.C905Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1270					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCCCACCTGTGGATATCCC	0.542000													33	68					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			1237	118					0	0	1	1	0
DCAF8L2	347442	broad.mit.edu	37	X	27765735	27765735	+	Silent	SNP	C	C	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:27765735C>G	ENST00000451261.2	+	5	1122	c.723C>G	c.(721-723)acC>acG	p.T241T		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGCGTGGCACCCGGCTGGCCA	0.532000													9	3					0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91486211	91486211	+	Silent	SNP	A	A	G			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr10:91486211A>G	ENST00000416354.1	+	16	2235	c.2163A>G	c.(2161-2163)aaA>aaG	p.K721K	KIF20B_ENST00000394289.2_Silent_p.K721K|KIF20B_ENST00000260753.4_Silent_p.K681K|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000371728.3_Silent_p.K721K			Q96Q89	KI20B_HUMAN	kinesin family member 20B	721					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATCAAATTAAAGCTGAATTAG	0.303000													5	6					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48683269	48683269	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:48683269G>A	ENST00000352832.5	+	22	4610	c.4238G>A	c.(4237-4239)gGg>gAg	p.G1413E	CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1413E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G1436E|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1413E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1436E	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1436					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCTTCAAAGGGAAGTTTTTC	0.567000													8	28					0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9829985	9829985	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:9829985G>A	ENST00000396115.1	-	10	1117	c.807C>T	c.(805-807)ctC>ctT	p.L269L	GAS7_ENST00000540214.1_Intron|GAS7_ENST00000323816.4_Silent_p.L265L|GAS7_ENST00000437099.2_Silent_p.L265L|GAS7_ENST00000542249.1_Silent_p.L274L|GAS7_ENST00000585266.1_Silent_p.L265L|GAS7_ENST00000580865.1_Silent_p.L189L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000579158.1_Silent_p.L281L|GAS7_ENST00000432992.2_Silent_p.L329L	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN	growth arrest-specific 7	329	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						AGCGGCTGGCGAGCTGCTTGC	0.602000			T	MLL	AML*								19	36					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151236737	151236737	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:151236737G>T	ENST00000535741.1	-	51	8142	c.7669C>A	c.(7669-7671)Cca>Aca	p.P2557T	LRBA_ENST00000510413.1_Missense_Mutation_p.P2557T|LRBA_ENST00000507224.1_Missense_Mutation_p.P2557T|LRBA_ENST00000357115.3_Missense_Mutation_p.P2568T|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2568						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTTCCACTGGCAGCTGGTAT	0.383000													12	29					3.27435e-08	3.3751e-08	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								4	56					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47189507	47189507	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr22:47189507G>A	ENST00000337137.4	+	3	395	c.229G>A	c.(229-231)Gac>Aac	p.D77N	TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.D30N|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.D77N|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.D30N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.D58N	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	77						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGCTGGGGAGGACGACGATGA	0.637000													17	28					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142658889	142658889	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:142658889C>A	ENST00000355265.2	-	2	548	c.74G>T	c.(73-75)aGc>aTc	p.S25I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	25					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TACCTCTTGGCTCCAGAGAGT	0.537000													67	346					3.61678e-42	4.03874e-42	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155176691	155176691	+	Silent	SNP	G	G	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:155176691G>A	ENST00000357232.3	-	21	5555	c.5556C>T	c.(5554-5556)taC>taT	p.Y1852Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1852	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGTGAGCTCGTAATCTAGAA	0.443000													18	23					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63970180	63970180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr15:63970180C>A	ENST00000443617.2	-	37	7021	c.6934G>T	c.(6934-6936)Gga>Tga	p.G2312*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2312					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCATCAACTCCTCCTATCACA	0.562000													27	44					5.61819e-17	6.07127e-17	1	1	0
LRFN2	57497	broad.mit.edu	37	6	40359746	40359746	+	Missense_Mutation	SNP	C	C	A			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:40359746C>A	ENST00000338305.6	-	3	2848	c.2306G>T	c.(2305-2307)aGt>aTt	p.S769I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	769						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCAGGTCACTCTCCTCAAA	0.642000													17	35					3.51602e-12	3.68083e-12	1	1	0
RP11-435B5.5	0	broad.mit.edu	37	1	143391935	143391936	+	RNA	INS	-	-	TG			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:143391935_143391936insTG	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							ATATATATATATAAAGAGATTG	0.252													4	9	---	---	---	---					
C2orf69	205327	broad.mit.edu	37	2	200790016	200790028	+	Frame_Shift_Del	DEL	ATGTTATTAGTTA	ATGTTATTAGTTA	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:200790016_200790028delATGTTATTAGTTA	ENST00000319974.5	+	2	748_760	c.565_577delATGTTATTAGTTA	c.(565-579)atfs	p.MLLVN189fs	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	189						extracellular region		p.L191L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						GCACCTTTATATGTTATTAGTTAATGCTTTTAA	0.338													30	26	---	---	---	---					
SETD9	133383	broad.mit.edu	37	5	56208853	56208854	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr5:56208853_56208854delAG	ENST00000285947.2	+	3	868_869	c.482_483delAG	c.(481-483)afs	p.K161fs	SETD9_ENST00000541720.1_Frame_Shift_Del_p.K161fs|SETD9_ENST00000475908.1_3'UTR	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN	SET domain containing 9	161																	GTATATCAGAAGTATGAGCCGA	0.351													28	78	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32522327	32522328	+	RNA	INS	-	-	CCCAGTAG	rs144707340	by1000genomes	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:32522327_32522328insCCCAGTAG	ENST00000411500.1	-	0	740					NR_001298.1																						ACAGGGCTACCCCCAGTGACCT	0.510													2	4	---	---	---	---					
MTMR2	8898	broad.mit.edu	37	11	95569452	95569453	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr11:95569452_95569453delTG	ENST00000393223.3	-	16	2075_2076	c.1413_1414delCA	c.(1411-1416)tatafs	p.YI471fs	MTMR2_ENST00000346299.5_Frame_Shift_Del_p.YI543fs|MTMR2_ENST00000409459.1_Frame_Shift_Del_p.YI471fs|MTMR2_ENST00000352297.7_Frame_Shift_Del_p.YI471fs	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	543	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y471Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGCTGTTTATGTAAGACCACA	0.431													53	72	---	---	---	---					
KTN1-AS1	0	broad.mit.edu	37	14	56014173	56014174	+	RNA	DEL	AG	AG	-	rs72015246		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:56014173_56014174delAG	ENST00000554558.1	-	0	364																											aaaaaaaaaaagaaTTGGCACA	0.446													6	7	---	---	---	---					
ZC3H18	124245	broad.mit.edu	37	16	88695241	88695241	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr16:88695241delC	ENST00000301011.5	+	16	2745	c.2545delC	c.(2545-2547)ccfs	p.P849fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P873fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	849						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGCCAAGCGGCCCAACACATC	0.642													40	83	---	---	---	---					
ZNF594	84622	broad.mit.edu	37	17	5085347	5085348	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:5085347_5085348delAA	ENST00000399604.4	-	1	2344_2345	c.2204_2205delTT	c.(2203-2205)cfs	p.L735fs	ZNF594_ENST00000575779.1_Frame_Shift_Del_p.L735fs			Q96JF6	ZN594_HUMAN	zinc finger protein 594	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CACATTCTTCAAGTTTCTCTCC	0.426													93	156	---	---	---	---					
STXBP4	252983	broad.mit.edu	37	17	53150436	53150439	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:53150436_53150439delAAGT	ENST00000376352.2	+	13	1394_1395	c.1188_splice	c.e13+1	p.396_splice	STXBP4_ENST00000434978.2_Splice_Site_p.374_splice	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	396						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GACCAAAATAAAGTAAGCAAAGCA	0.407													32	38	---	---	---	---					
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggg>gg	p.GE112del	RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	112					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.660													5	10	---	---	---	---