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
PALMD	54873	broad.mit.edu	37	1	100154340	100154340	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:100154340C>T	uc001dsg.3	+	6	967	c.524C>T	c.(523-525)gCc>gTc	p.A175V		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	175					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GCTTTATATGCCATGGAAATT	0.299000													18	49					0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145578441	145578441	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:145578441A>G	uc001eoc.1	+	1	495	c.404A>G	c.(403-405)tAt>tGt	p.Y135C	PIAS3_uc010oyy.1_Missense_Mutation_p.Y126C|PIAS3_uc001eod.1_5'Flank	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	135	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.R134W(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGCCCTTCTATGAAGTCTAT	0.582000													19	219					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160464296	160464296	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr6:160464296G>A	uc003qta.3	+	11	1745	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	533					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AGGGTGTCCCGAGGACGCGGC	0.493000													60	133					0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96706966	96706966	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr14:96706966G>A	uc010avm.1	+	2	497	c.301G>A	c.(301-303)Gca>Aca	p.A101T	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.A74T|BDKRB2_uc001yfg.2_Missense_Mutation_p.A101T	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	101					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		GAACCTGGCCGCAGCAGACCT	0.607000													4	241					0	0	1	0	0
AQP5	362	broad.mit.edu	37	12	50357924	50357924	+	Missense_Mutation	SNP	C	C	T	rs117761535	byFrequency	TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:50357924C>T	uc001rvo.2	+	2	1100	c.578C>T	c.(577-579)gCg>gTg	p.A193V		NM_001651	NP_001642	P55064	AQP5_HUMAN	Homo sapiens aquaporin 5 (AQP5), mRNA.	193					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TTTGGCCCTGCGGTGGTCATG	0.612000													44	91					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1293592	1293592	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr5:1293592C>T	uc003jcb.1	-	1	1467	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H	TERT_uc003jcc.1_Missense_Mutation_p.R470H|TERT_uc003jca.1_Missense_Mutation_p.R470H|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	470	QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACCAGCCGGCGCAGGCAGGC	0.687000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	7					0	0	1	0	0
UQCRC1	7384	broad.mit.edu	37	3	48637950	48637950	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:48637950T>A	uc003cub.1	-	9	1223	c.1178A>T	c.(1177-1179)aAc>aTc	p.N393I		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	393					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	TCTGAGGATGTTTTTGCCCCG	0.567000													33	57					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614041	3614041	+	Silent	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr16:3614041C>T	uc010btn.3	-	4	1308	c.897G>A	c.(895-897)gaG>gaA	p.E299E		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	299	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAACATCTGCTCCAAACACA	0.627000													5	78					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109394761	109394761	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:109394761T>C	uc001dwa.3	-	1	795	c.526A>G	c.(526-528)Agg>Ggg	p.R176G	AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	176										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCACCATCCCTTTTCGGGTTG	0.423000													3	109					0	0	1	0	0
C7orf33	202865	broad.mit.edu	37	7	148288066	148288066	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:148288066C>A	uc003wew.3	+	0	410	c.49C>A	c.(49-51)Ctt>Att	p.L17I		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.	17										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCCCTGGAGACTTCCAGGCCC	0.567000													24	65					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69727910	69727910	+	Missense_Mutation	SNP	A	A	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr16:69727910A>T	uc002exl.2	+	12	4518	c.4182A>T	c.(4180-4182)ttA>ttT	p.L1394F	NFAT5_uc002exj.2_Missense_Mutation_p.L1300F|NFAT5_uc002exk.2_Missense_Mutation_p.L1300F|NFAT5_uc002exn.2_Missense_Mutation_p.L1393F|NFAT5_uc002exm.2_Missense_Mutation_p.L1376F|NFAT5_uc002exo.2_Intron|NFAT5_uc002exi.3_Missense_Mutation_p.L1300F	NM_138713	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 2, mRNA.	1376					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCTCTTCTTATCTCCAGCAT	0.453000													29	61					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52719042	52719042	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:52719042C>T	uc002pyp.3	+	6	1113	c.818C>T	c.(817-819)gCa>gTa	p.A273V	PPP2R1A_uc010ydk.2_Missense_Mutation_p.A218V|PPP2R1A_uc010epm.1_Missense_Mutation_p.A313V|PPP2R1A_uc002pyq.3_Missense_Mutation_p.A94V	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	273	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CTCCAGAAAGCAGTGGGGCCT	0.577000			Mis		clear cell ovarian carcinoma								29	69					0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69197877	69197877	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr4:69197877T>C	uc003hdx.3	-	6	1419	c.1066A>G	c.(1066-1068)Aga>Gga	p.R356G	YTHDC1_uc003hdy.3_Missense_Mutation_p.R338G	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	356	YTH.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						AGGAAAAATCTTGCATCTTGA	0.343000													21	73					0	0	1	0	0
PHOX2A	401	broad.mit.edu	37	11	71950915	71950915	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr11:71950915C>T	uc001osh.4	-	2	905	c.733G>A	c.(733-735)Gcg>Acg	p.A245T		NM_005169	NP_005160	O14813	PHX2A_HUMAN	Homo sapiens paired-like homeobox 2a (PHOX2A), mRNA.	245	Poly-Gly.				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						GCCGCTCCCGCGCCAGGCCCG	0.771000													3	8					0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747584	94747584	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr8:94747584G>A	uc003yfz.3	-	2	1248	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L	RBM12B_uc022aye.1_Missense_Mutation_p.P352L	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	352	RRM 2.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AATATGAACTGGACGATATTG	0.363000													18	42					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160124992	160124992	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:160124992C>T	uc001fve.4	+	2	844	c.365C>T	c.(364-366)gCc>gTc	p.A122V	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	122					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCTTTGTGGCCTACAGCATC	0.517000													3	53					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155932417	155932417	+	Silent	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:155932417G>A	uc001fmu.2	-	12	1455	c.1200C>T	c.(1198-1200)taC>taT	p.Y400Y	ARHGEF2_uc001fmr.2_Silent_p.Y328Y|ARHGEF2_uc001fms.2_Silent_p.Y355Y|ARHGEF2_uc001fmt.2_Silent_p.Y356Y|ARHGEF2_uc010pgt.1_Silent_p.Y329Y|ARHGEF2_uc010pgu.1_Silent_p.Y401Y	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	356	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTCTCGGGCGTACAGCTCCT	0.557000													4	128					0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204380470	204380470	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:204380470A>G	uc001hav.4	-	0	475	c.70T>C	c.(70-72)Ttt>Ctt	p.F24L		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.	24					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CGAGGGAAAAAGGGTGGCCAG	0.627000													3	134					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123805012	123805012	+	Silent	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:123805012G>A	uc010tap.2	-	17	2634	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	SBNO1_uc010tao.2_Silent_p.I877I|SBNO1_uc010taq.2_Intron	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	878							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAAGTTCATCGATAAGTTCAT	0.438000													34	98					0	0	1	0	0
SEMA7A	8482	broad.mit.edu	37	15	74703138	74703138	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr15:74703138G>A	uc002axv.3	-	13	1868	c.1828C>T	c.(1828-1830)Cac>Tac	p.H610Y	SEMA7A_uc010ulk.2_Missense_Mutation_p.H445Y|SEMA7A_uc010ull.2_Missense_Mutation_p.H596Y	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	610	Ig-like C2-type.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CAGAAGTAGTGGCCGTACTGC	0.637000													27	44					0	0	1	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99032844	99032844	+	Nonsense_Mutation	SNP	G	G	A	rs138103080		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:99032844G>A	uc011kiw.2	-	2	229	c.169C>T	c.(169-171)Cga>Tga	p.R57*	ATP5J2-PTCD1_uc003uqh.3_Nonsense_Mutation_p.R8*	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	57																	GCGAACAGTCGAGCGAGTCTC	0.567000													19	114					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071160	73071160	+	RNA	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chrX:73071160G>A	uc004ebm.1	-	0		c.1429C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AAAGCACACAGCAAAGACAAA	0.517000													3	59					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38523689	38523689	+	Splice_Site	SNP	G	G	C			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:38523689G>C	uc003cif.3	+	9	1099	c.1075_splice	c.e9-1	p.V359_splice	ACVR2B_uc003cig.3_Splice_Site_p.V150_splice	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.	359	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CCTCACATAGGTAGGCACGAG	0.562000													26	70					0	0	1	0	0
SLC22A14	9389	broad.mit.edu	37	3	38357110	38357110	+	Silent	SNP	G	G	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:38357110G>T	uc010hhc.1	+	8	1482	c.1440G>T	c.(1438-1440)acG>acT	p.T480T	SLC22A14_uc003cib.2_Silent_p.T480T|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	480						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		AATCCATGACGATCTTGGTGC	0.592000													74	133					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623626	100623626	+	Silent	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr2:100623626G>A	uc002taf.3	-	4	690	c.546C>T	c.(544-546)gaC>gaT	p.D182D	AFF3_uc002tag.3_Silent_p.D157D|AFF3_uc010fiq.1_Silent_p.D157D|AFF3_uc010yvr.1_Silent_p.D311D|AFF3_uc002tah.1_Silent_p.D182D|AFF3_uc010fir.1_Silent_p.D234D	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	157					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCTGTTGGCCGTCAGAGGGTG	0.498000													38	69					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122168506	122168506	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr3:122168506G>A	uc003efe.2	-	8	1020	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	KPNA1_uc003efb.1_Missense_Mutation_p.L77F|KPNA1_uc003efc.1_Missense_Mutation_p.L77F|KPNA1_uc011bjr.1_Missense_Mutation_p.L77F|KPNA1_uc010hrh.2_Missense_Mutation_p.L77F	NM_002264	NP_002255	P52294	IMA1_HUMAN	Homo sapiens karyopherin alpha 1 (importin alpha 5) (KPNA1), transcript variant 1, mRNA.	278	Binding to RAG1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		AGATATGAGAGGGCCCAGCAG	0.433000													3	94					0	0	1	0	0
C7orf25	79020	broad.mit.edu	37	7	42971806	42971806	+	Splice_Site	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:42971806G>A	uc010kxr.3	-	1	1	c.-929_splice	c.e1-1		PSMA2_uc003thy.3_Splice_Site|PSMA2_uc003thz.1_Splice_Site|MRPL32_uc003tia.3_5'Flank|MRPL32_uc003tib.3_5'Flank	NM_001099858	NP_001093328	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.											endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CACTGTGGCCGATTTCCTTTC	0.537000													22	33					0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52499143	52499143	+	Silent	SNP	C	C	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:52499143C>A	uc001ctj.1	-	0	330	c.291G>T	c.(289-291)gcG>gcT	p.A97A	TXNDC12_uc001cti.3_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.	97							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						GGGTGCGCGCCGCCCGTGCCA	0.672000													4	157					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				39	66					0	0	1	0	0
SYNGR4	23546	broad.mit.edu	37	19	48869181	48869181	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:48869181G>T	uc002piz.3	+	1	333	c.82G>T	c.(82-84)Gtc>Ttc	p.V28F	TMEM143_uc002piw.1_5'Flank|TMEM143_uc010xzn.1_5'Flank|TMEM143_uc010elw.1_5'Flank|TMEM143_uc010xzo.1_5'Flank|TMEM143_uc002pix.1_5'Flank|TMEM143_uc002piy.1_5'Flank|TMEM143_uc010xzp.1_5'Flank|TMEM143_uc010xzq.1_5'Flank|Mir_324_uc021uwt.1_5'Flank	NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	28	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CATCACGCGGGTCTTCGAAGG	0.617000													41	52					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351650	42351650	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:42351650G>A	uc010xwe.2	+	1	237	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	DMRTC2_uc002orr.1_5'UTR|DMRTC2_uc002ors.3_Missense_Mutation_p.A52T	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	52					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGGTGTCACCGCCCATCTCAA	0.617000													4	117					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52971586	52971586	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr13:52971586C>T	uc001vgo.3	-	2	1347	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	THSD1_uc001vgp.3_Missense_Mutation_p.V268I|THSD1_uc010tgz.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	268						extracellular region|integral to membrane|intracellular membrane-bounded organelle		p.V268I(2)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTCCTTGGACGAAGGTGCAT	0.562000													30	78					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228461984	228461984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:228461984G>A	uc009xez.1	+	18	5566	c.5522G>A	c.(5521-5523)tGg>tAg	p.W1841*	OBSCN_uc001hsn.3_Nonsense_Mutation_p.W1841*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1841	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGTGGTGTGGCGCTGCGGC	0.692000													4	169					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18237559	18237559	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr12:18237559C>T	uc001rdq.3	-	4	421	c.227G>A	c.(226-228)tGg>tAg	p.W76*		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	76	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CCCATCTGCCCAGTGAAGCTC	0.398000													55	93					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105171	151105171	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr1:151105171delG	uc001ewv.3	-	19	3014	c.2678delC	c.(2677-2679)cctfs	p.P893fs	SEMA6C_uc001ewu.3_Frame_Shift_Del_p.P861fs|SEMA6C_uc001eww.3_Frame_Shift_Del_p.P853fs	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	861						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGCAGGGCAGGGGGGGCCCG	0.781													2	4	---	---	---	---					
PNISR	25957	broad.mit.edu	37	6	99848406	99848406	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr6:99848406delA	uc021zdd.1	-	0	909	c.228delT	c.(226-228)tttfs	p.F76fs	PNISR_uc021zdc.1_Intron|PNISR_uc003ppo.4_3'UTR|PNISR_uc003ppp.4_3'UTR|PNISR_uc011eag.2_3'UTR	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	0						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AAAATACTTTAAAAAGTATAC	0.348													95	138	---	---	---	---					
ARID3A	1820	broad.mit.edu	37	19	929631	929631	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chr19:929631delC	uc002lql.3	+	1	393	c.103delC	c.(103-105)cccfs	p.P35fs		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	35						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCTGCAccccccggccg	0.741													2	4	---	---	---	---					
LOC442459	442459	broad.mit.edu	37	X	98975827	98975827	+	RNA	DEL	T	T	-			TCGA-EL-A3MZ-01A-11D-A21A-08	TCGA-EL-A3MZ-11A-11D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47257d8b-b2d5-4c9d-81f9-0d0d9c3bb1f8	9082f100-7dd2-49d3-898f-d4d0ec6d6c73	g.chrX:98975827delT	uc011mrd.1	-	6		c.772delA								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		CTGGTCAAGCTTTAGAATTTG	0.398													2	4	---	---	---	---					
