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
MYO3A	53904	broad.mit.edu	37	10	26465766	26465766	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr10:26465766G>T	uc001isn.2	+	30	4790	c.4430G>T	c.(4429-4431)tGc>tTc	p.C1477F	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1477					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTCAGCAGTGCCTCTCAGGT	0.373000													4	58					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237387	140237387	+	Missense_Mutation	SNP	T	T	G	rs251364	by1000genomes	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr5:140237387T>G	uc003lhx.2	+	0	1754	c.1754T>G	c.(1753-1755)gTt>gGt	p.V585G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.V585G	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	599					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCGGTGGTTGCGGGTCAC	0.662000													5	41					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs114234640	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr6:32725567C>T	uc003obz.2	-	3	823	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552000													5	30					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216043	20216043	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr14:20216043G>A	uc010tkt.2	+	0	457	c.457G>A	c.(457-459)Ggt>Agt	p.G153S		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTGTGGGGGTTTTATCCA	0.498000													10	39					0	0	1	0	0
PDHX	8050	broad.mit.edu	37	11	34991708	34991708	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr11:34991708C>T	uc001mvt.3	+	6	1365	c.839C>T	c.(838-840)gCc>gTc	p.A280V	PDHX_uc010rep.2_Missense_Mutation_p.A265V|PDHX_uc010req.2_Intron	NM_003477	NP_003468	O00330	ODPX_HUMAN	Homo sapiens pyruvate dehydrogenase complex, component X (PDHX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	280					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GAAATCCCCGCCAGCAATATT	0.383000													12	44					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	30002225	30002225	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr16:30002225G>A	uc002dvc.2	+	17	3383	c.2566G>A	c.(2566-2568)Gag>Aag	p.E856K	BOLA2_uc010bzb.1_Intron	NM_004783	NP_004774	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 2, mRNA.	737	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGCCAGCACGAGAGGGAGCT	0.662000													6	96					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40750961	40750961	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr15:40750961C>T	uc001zlu.2	+	1	369	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	BAHD1_uc001zlt.2_Missense_Mutation_p.P100S|BAHD1_uc010bbp.1_Missense_Mutation_p.P100S|BAHD1_uc001zlv.2_Missense_Mutation_p.P100S	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	100					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCCAAGCCCCCCAGCCCGGC	0.657000													9	73					0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13695683	13695683	+	Silent	SNP	T	T	C			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr20:13695683T>C	uc002woj.3	-	13	2502	c.2394A>G	c.(2392-2394)gaA>gaG	p.E798E		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	798	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTTCTTTCCGTTCTCTTTGCC	0.398000													29	121					0	0	1	0	0
NBPF15	284565	broad.mit.edu	37	1	148594407	148594407	+	Missense_Mutation	SNP	G	G	A	rs144416833	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:148594407G>A	uc001esb.2	+	21	2942	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M	NBPF15_uc001esc.2_Missense_Mutation_p.V594M	NM_001170755	NP_775909	Q8N660	NBPFF_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 15 (NBPF15), transcript variant 1, mRNA.	594	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					GCTCTACGGCGTGCTGATGGA	0.458000													13	286					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453145	140453145	+	Missense_Mutation	SNP	A	A	C	rs121913368		TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr7:140453145A>C	uc003vwc.4	-	14	1851	c.1790T>G	c.(1789-1791)cTa>cGa	p.L597R		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	597	Protein kinase.		L -> R (in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation).|L -> V (in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).		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.L597R(30)|p.L597S(22)|p.L597Q(21)|p.L597V(13)|p.G596R(6)|p.L597L(3)|p.G596D(2)|p.L597_A598insT(2)|p.G596fs*2(1)|p.D594_T599del(1)|p.G596S(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)	CACTGTAGCTAGACCAAAATC	0.383000		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				5	92					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104934014	104934014	+	Splice_Site	SNP	T	T	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr8:104934014T>A	uc003yls.3	+	8	1771	c.1530_splice	c.e8+2	p.S510_splice	RIMS2_uc003ylp.3_Splice_Site_p.S732_splice|RIMS2_uc003ylw.2_Splice_Site_p.S540_splice|RIMS2_uc003ylq.3_Splice_Site_p.S540_splice|RIMS2_uc003ylr.3_Splice_Site_p.S587_splice|RIMS2_uc003ylt.3_Splice_Site_p.S133_splice|RIMS2_uc003ylv.1_Missense_Mutation_p.V124E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	810					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAACTTTCAGTATGTAGTCAT	0.338000										HNSCC(12;0.0054)			7	47					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128599589	128599589	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chrX:128599589C>G	uc011muk.1	-	22	3051	c.2938G>C	c.(2938-2940)Gat>Cat	p.D980H	SMARCA1_uc004eun.4_Missense_Mutation_p.D980H|SMARCA1_uc004eup.4_Missense_Mutation_p.D968H|SMARCA1_uc011mul.1_Missense_Mutation_p.D968H	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	980	SANT 2.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTTTCTCTATCAAAGCCCATT	0.363000													22	31					0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158984677	158984677	+	Silent	SNP	C	C	T	rs144369567	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:158984677C>T	uc001ftg.3	+	1	497	c.207C>T	c.(205-207)ttC>ttT	p.F69F	IFI16_uc010pis.2_Silent_p.F69F|IFI16_uc010pit.2_Silent_p.F69F|IFI16_uc001ftf.1_Silent_p.F69F	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	69	DAPIN.|Lys-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAAATTTTCGAAGATATAC	0.388000													18	74					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chrX:47030582G>T	uc004dhi.3	+	3	781	c.552G>T	c.(550-552)gaG>gaT	p.E184D	RBM10_uc004dhe.2_Missense_Mutation_p.E109D|RBM10_uc004dhf.3_Missense_Mutation_p.E119D|RBM10_uc004dhh.3_Missense_Mutation_p.E119D|RBM10_uc010nhq.3_Intron|RBM10_uc004dhg.3_Intron	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	119	RRM 1.				RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide 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						aggaggaggaggatgaggagg	0.662000													3	11					0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119525	18119525	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr19:18119525G>A	uc002nhv.3	+	1	423	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	ARRDC2_uc002nhu.3_Missense_Mutation_p.G89R	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.	94										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TGCAGATACCGGGGAGACCAC	0.647000													22	110					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161027631	161027631	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr6:161027631G>A	uc003qtl.3	-	17	2783	c.2663C>T	c.(2662-2664)aCg>aTg	p.T888M		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3396	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGATCCCTCGTATAACAATA	0.522000													45	182					0	0	1	0	0
P2RY4	5030	broad.mit.edu	37	X	69478626	69478626	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chrX:69478626A>C	uc004dxz.1	-	0	1029	c.849T>G	c.(847-849)atT>atG	p.I283M		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	283					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CCACGTTGACAATGTTCAGTA	0.542000													3	17					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21239844	21239844	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr19:21239844T>C	uc002npj.3	+	4	911	c.730T>C	c.(730-732)Tgg>Cgg	p.W244R	ZNF430_uc002npk.3_Missense_Mutation_p.W243R	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGTCTTTAACTGGTTCTCAAC	0.363000													10	37					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24848254	24848254	+	Splice_Site	SNP	A	A	C			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr6:24848254A>C	uc003neo.1	-	12	1253	c.1077_splice	c.e12+1	p.F359_splice	FAM65B_uc011djs.1_Splice_Site_p.F388_splice|FAM65B_uc011dju.2_Splice_Site_p.F393_splice|FAM65B_uc003nep.3_Splice_Site_p.F359_splice|FAM65B_uc011djt.2_Splice_Site_p.F359_splice	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	359					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGAACTTACAAAGAAGGAGTG	0.507000													16	44					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31238023	31238023	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr12:31238023G>A	uc001rjt.1	+	4	852	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	DDX11_uc010sjw.1_Missense_Mutation_p.E201K|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.E201K|DDX11_uc001rjs.1_Missense_Mutation_p.E201K|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.E201K|DDX11_uc001rjw.1_Missense_Mutation_p.E175K|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	201	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGTCCTCGCCGAATACGAGAG	0.617000										Multiple Myeloma(12;0.14)			4	12					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr6:32725559C>T	uc003obz.2	-	3	831	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000													5	27					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32481467	32481467	+	Missense_Mutation	SNP	C	C	T			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr12:32481467C>T	uc001rku.3	+	4	2159	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	BICD1_uc001rkv.3_Missense_Mutation_p.A693V|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	693	Interacts with RAB6A.				RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACATTGAGGGCGGTGTTGAAA	0.443000													14	76					0	0	1	0	0
GNAT2	2780	broad.mit.edu	37	1	110146052	110146052	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:110146052T>A	uc001dya.3	-	7	1202	c.989A>T	c.(988-990)cAg>cTg	p.Q330L		NM_005272	NP_005263	P19087	GNAT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 (GNAT2), mRNA.	330					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTTGACATTCTGTGTATCTGT	0.403000													4	61					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	93834	93835	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr10:93834_93835delTG	uc001ifi.2	-	3	497_498	c.497_498delCA	c.(496-498)acafs	p.T166fs		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	166					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGATGCTGAATGTGTTTATGAT	0.584													8	199	---	---	---	---					
