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
TNFRSF8	943	broad.mit.edu	37	1	12172043	12172043	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:12172043C>T	uc001atq.3	+	6	987	c.765C>T	c.(763-765)cgC>cgT	p.R255R	TNFRSF8_uc010obc.2_Silent_p.R144R	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	255					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCGGCCGCTGCACGGCCT	0.587												
LOC440563	440563	broad.mit.edu	37	1	13183578	13183578	+	Nonsense_Mutation	SNP	G	G	A	rs115194400	by1000genomes	TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:13183578G>A	uc010obg.2	-	1	538	c.295C>T	c.(295-297)Cga>Tga	p.R99*		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	99						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GCTGCGGATCGTTTCACACCT	0.502												
EPHA10	284656	broad.mit.edu	37	1	38227194	38227194	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:38227194C>T	uc009vvi.3	-	2	819	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	EPHA10_uc001cbw.4_Missense_Mutation_p.E245K	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	245						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTCCCCTTCCGAGTGCGCC	0.736												
MACF1	23499	broad.mit.edu	37	1	39924911	39924911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:39924911G>A	uc021olw.1	+	55	16679	c.16679G>A	c.(16678-16680)cGg>cAg	p.R5560Q	MACF1_uc021ols.1_Missense_Mutation_p.R5055Q|MACF1_uc021olt.1_Missense_Mutation_p.R5058Q|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7016					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCTTGGATCGGCTGGAGGAG	0.512												
SZT2	23334	broad.mit.edu	37	1	43912755	43912755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:43912755G>A	uc001cjk.2	+	64	9115	c.6505G>A	c.(6505-6507)Ggc>Agc	p.G2169S	SZT2_uc001cjl.2_Missense_Mutation_p.G157S	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	3068						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GCTGCGGCACGGCTACCACCT	0.607												
JUN	3725	broad.mit.edu	37	1	59248392	59248392	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:59248392G>A	uc001cze.3	-	0	1394	c.351C>T	c.(349-351)gcC>gcT	p.A117A	LOC100131060_uc001czf.2_5'Flank|LOC100131060_uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	Homo sapiens jun proto-oncogene (JUN), mRNA.	117					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	GTTCGGCCAGGGCGCGCACGA	0.697			A		sarcoma							
CTSS	1520	broad.mit.edu	37	1	150730364	150730364	+	Silent	SNP	G	G	A	rs139535421		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:150730364G>A	uc001evn.3	-	2	480	c.219C>T	c.(217-219)taC>taT	p.Y73Y	CTSS_uc010pcj.2_Silent_p.Y73Y	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	73					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCAGATCGTATGAGTGCA	0.428												
FLG	2312	broad.mit.edu	37	1	152285059	152285059	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:152285059G>A	uc001ezu.1	-	2	2339	c.2303C>T	c.(2302-2304)gCt>gTt	p.A768V	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	768	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACCAGCCTGTCCATG	0.562									Ichthyosis			
NUF2	83540	broad.mit.edu	37	1	163315530	163315530	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:163315530G>T	uc001gcq.1	+	10	1170	c.870G>T	c.(868-870)caG>caT	p.Q290H	NUF2_uc001gcr.1_Missense_Mutation_p.Q290H	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	290	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CTTCATGTCAGTTGGAAGTGC	0.358												
HMCN1	83872	broad.mit.edu	37	1	186092310	186092310	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:186092310G>A	uc001grq.1	+	80	12686	c.12457G>A	c.(12457-12459)Gta>Ata	p.V4153I	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4153	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCAGCCAATGTAGCAGGATC	0.498												
CAMSAP2	23271	broad.mit.edu	37	1	200823985	200823985	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:200823985C>T	uc001gvl.3	+	14	4167	c.3897C>T	c.(3895-3897)aaC>aaT	p.N1299N	CAMSAP2_uc001gvk.3_Silent_p.N1288N|CAMSAP2_uc001gvm.3_Silent_p.N1272N	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1299						cytoplasm|microtubule	protein binding										CGGGTGATAACGAGAGTGTAC	0.343												
CHML	1122	broad.mit.edu	37	1	241797187	241797187	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:241797187G>A	uc001hzd.3	-	0	2046	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	628					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.P628S(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTGGTTCCAGGAGCCTCTGGC	0.418												
MYOF	26509	broad.mit.edu	37	10	95134679	95134679	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr10:95134679G>A	uc001kin.3	-	22	2265	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	MYOF_uc001kio.3_Silent_p.N701N|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	714					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAACTGTGACGTTGGCTTTTC	0.448												
LRRC27	80313	broad.mit.edu	37	10	134165159	134165159	+	Silent	SNP	G	G	A	rs147065829		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr10:134165159G>A	uc010quw.1	+	6	1170	c.975G>A	c.(973-975)ccG>ccA	p.P325P	LRRC27_uc001llf.2_Missense_Mutation_p.R357H|LRRC27_uc010quv.1_Silent_p.P325P|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Silent_p.P325P|LRRC27_uc001llj.2_Silent_p.P263P|LRRC27_uc001llk.4_Silent_p.P198P	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	325								p.P325Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527												
FAM160A2	84067	broad.mit.edu	37	11	6239211	6239211	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:6239211G>A	uc001mck.4	-	8	2006	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G	FAM160A2_uc001mcl.4_Silent_p.G535G|FAM160A2_uc001mcm.2_Silent_p.G535G	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	535					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGGCCGTCGGCCAGGGCTGG	0.652												
SLC35C1	55343	broad.mit.edu	37	11	45827648	45827648	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:45827648C>T	uc001nbp.3	+	0	1008	c.296C>T	c.(295-297)cCt>cTt	p.P99L	SLC35C1_uc001nbo.3_Missense_Mutation_p.P86L|SLC35C1_uc010rgm.2_Missense_Mutation_p.P86L	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN	Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.	99						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GCCTGCTGCCCTGGTGCCGTG	0.652												
OR4C11	219429	broad.mit.edu	37	11	55371296	55371296	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:55371296A>T	uc010rii.2	-	0	579	c.554T>A	c.(553-555)cTt>cAt	p.L185H		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L185L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CATGCAGGCAAGTTTCAACAA	0.398												
OR4P4	81300	broad.mit.edu	37	11	55405976	55405976	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:55405976C>T	uc010rij.2	+	0	143	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T48A(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATTTCTATCACGTGCACCCAG	0.388												
OR5M1	390168	broad.mit.edu	37	11	56380780	56380780	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:56380780A>G	uc001nja.1	-	0	199	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCTACAAAGGAGAGGTGGCCA	0.463												
OR5AR1	219493	broad.mit.edu	37	11	56431356	56431356	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:56431356C>A	uc010rjm.2	+	0	195	c.195C>A	c.(193-195)aaC>aaA	p.N65K	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCCTCTGCAACCTCTCCTTTG	0.453												
LRP5	4041	broad.mit.edu	37	11	68191121	68191121	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:68191121G>A	uc001ont.3	+	13	3267	c.3192G>A	c.(3190-3192)ggG>ggA	p.G1064G	LRP5_uc009ysg.3_Silent_p.G474G	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1064	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCTGCGTGGGGACCGCGACA	0.677												
CLPB	81570	broad.mit.edu	37	11	72005108	72005108	+	Silent	SNP	G	G	A	rs147296630		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:72005108G>A	uc001osj.3	-	15	1883	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	CLPB_uc010rqx.2_Silent_p.D566D|CLPB_uc010rqy.2_Silent_p.D552D|CLPB_uc001osk.3_Silent_p.D581D|CLPB_uc010rqz.2_Silent_p.D410D|CLPB_uc001osi.3_Silent_p.D219D	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	611					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CATTGTAGCCGTCGACCAGCA	0.612												
TMEM25	84866	broad.mit.edu	37	11	118403822	118403822	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:118403822C>T	uc001ptk.4	+	3	747	c.573C>T	c.(571-573)acC>acT	p.T191T	TMEM25_uc010ryd.1_Silent_p.T191T|TMEM25_uc010ryf.2_Intron|TMEM25_uc010rye.2_Silent_p.T191T|TMEM25_uc009zad.3_Silent_p.T191T|TMEM25_uc001pth.3_Silent_p.T191T|TMEM25_uc001pti.3_Silent_p.T87T|TMEM25_uc001ptl.2_Silent_p.T191T|TMEM25_uc001ptm.2_Silent_p.T191T	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN	Homo sapiens transmembrane protein 25 (TMEM25), transcript variant 4, mRNA.	191						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTGGCTCACCAACCACACGG	0.632												
AICDA	57379	broad.mit.edu	37	12	8757515	8757515	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:8757515T>A	uc001qur.2	-	3	510	c.431A>T	c.(430-432)tAt>tTt	p.Y144F	AICDA_uc001qup.1_Intron|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	144					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	p.Y144H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GCAGTAAAAATAATCTTCAAA	0.428												
MFSD5	84975	broad.mit.edu	37	12	53646716	53646716	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:53646716T>A	uc001sch.2	+	1	565	c.418T>A	c.(418-420)Tgc>Agc	p.C140S	MFSD5_uc001sci.2_Missense_Mutation_p.C33S|MFSD5_uc021qye.1_Missense_Mutation_p.C33S	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	33					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TGGAAGGGCCTGCAGCAATCC	0.572												
SPIC	121599	broad.mit.edu	37	12	101880531	101880531	+	Silent	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:101880531A>G	uc001tid.3	+	5	888	c.729A>G	c.(727-729)ctA>ctG	p.L243L	SPIC_uc010svp.2_Silent_p.L243L|SPIC_uc009zua.3_Silent_p.L118L|SPIC_uc021rcq.1_Silent_p.L118L	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	243						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACCATGAGCTAAATCACCATG	0.323												
CIT	11113	broad.mit.edu	37	12	120148180	120148180	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:120148180C>T	uc001txj.2	-	38	5003	c.4947G>A	c.(4945-4947)gtG>gtA	p.V1649V	CIT_uc001txh.2_Silent_p.V1126V|CIT_uc001txi.2_Silent_p.V1607V	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1607	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.N1649S(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTCGGTGCCCACCAACACCA	0.512												
OASL	8638	broad.mit.edu	37	12	121471350	121471350	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:121471350A>G	uc001tzj.1	-	1	401	c.395T>C	c.(394-396)gTc>gCc	p.V132A	OASL_uc001tzk.1_Missense_Mutation_p.V132A	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	132					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCATCGGGGACTCTCTGCTC	0.587												
RIMBP2	23504	broad.mit.edu	37	12	130927081	130927081	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:130927081G>A	uc001uil.2	-	7	981	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RIMBP2_uc001uim.3_Silent_p.S163S	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	255						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCCGATGCCGGAATGGTTGA	0.597												
PABPC3	5042	broad.mit.edu	37	13	25671129	25671129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr13:25671129C>T	uc001upy.3	+	0	854	c.793C>T	c.(793-795)Cga>Tga	p.R265*		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	265	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTACGTTGGTCGAGCTCAGAA	0.403												
OR4M1	441670	broad.mit.edu	37	14	20249075	20249075	+	Silent	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:20249075G>T	uc010tku.2	+	0	594	c.594G>T	c.(592-594)gtG>gtT	p.V198V		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V198L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGAGTTAGTGATGATCTGTA	0.478												
JPH4	84502	broad.mit.edu	37	14	24040215	24040215	+	Silent	SNP	C	C	T	rs144311601		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:24040215C>T	uc001wkq.2	-	5	2643	c.1725G>A	c.(1723-1725)tcG>tcA	p.S575S	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.3_5'Flank|JPH4_uc010tnr.1_Silent_p.S240S|JPH4_uc001wkr.2_Silent_p.S575S	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	575					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		p.S575S(2)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCCTCGAGGACGAGCCCCTCA	0.687												
IRF9	10379	broad.mit.edu	37	14	24635334	24635334	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:24635334G>A	uc001wmq.3	+	8	1931	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Missense_Mutation_p.E155K	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	371					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AATACAGATGGAGCAGGCCTT	0.597												
CHURC1-FNTB	2342	broad.mit.edu	37	14	65520032	65520032	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:65520032G>A	uc001xia.3	+	9	1197	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q	CHURC1-FNTB_uc010tsl.2_Silent_p.Q405Q|CHURC1-FNTB_uc010tsm.2_Silent_p.Q298Q|MAX_uc001xic.1_Intron|CHURC1-FNTB_uc001xid.3_Silent_p.Q100Q|CHURC1-FNTB_uc010tso.2_Silent_p.Q259Q	NM_002028	NP_002019	B4DL54	B4DL54_HUMAN	Homo sapiens farnesyltransferase, CAAX box, beta (FNTB), mRNA.	378					multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding										TGTGCTGCCAGTGCCCTGCGG	0.592												
MAP1A	4130	broad.mit.edu	37	15	43820051	43820051	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:43820051C>G	uc001zrt.3	+	3	6847	c.6380C>G	c.(6379-6381)cCt>cGt	p.P2127R		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2127						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCCCCAAGTCCTCCTCACCCC	0.582												
FGF7	2252	broad.mit.edu	37	15	49776594	49776594	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:49776594G>A	uc001zxn.3	+	3	1007	c.478G>A	c.(478-480)Gga>Aga	p.G160R	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	160					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GACACACAACGGAGGGGAAAT	0.353												
BCL2L10	10017	broad.mit.edu	37	15	52404684	52404684	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:52404684C>T	uc002abq.3	-	0	289	c.240G>A	c.(238-240)ctG>ctA	p.L80L		NM_020396	NP_065129	Q9HD36	B2L10_HUMAN	Homo sapiens BCL2-like 10 (apoptosis facilitator) (BCL2L10), mRNA.	70					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		AATCCGCCATCAGCGCCACCA	0.692												
RFX7	64864	broad.mit.edu	37	15	56387837	56387837	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:56387837G>T	uc010bfn.3	-	8	2089	c.2089C>A	c.(2089-2091)Caa>Aaa	p.Q697K	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.Q511K	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	600					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGAACCTTTTGGTCCTTCTTA	0.453												
RPP25	54913	broad.mit.edu	37	15	75248658	75248658	+	Silent	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:75248658C>A	uc002azj.1	-	0	1118	c.267G>T	c.(265-267)gcG>gcT	p.A89A		NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN	Homo sapiens ribonuclease P/MRP 25kDa subunit (RPP25), mRNA.	89					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding			breast(1)|lung(1)	2						GGTGCAGGCCCGCCAGGCGGC	0.736												
IGF1R	3480	broad.mit.edu	37	15	99251218	99251218	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:99251218C>T	uc002bul.3	+	1	572	c.522C>T	c.(520-522)ccC>ccT	p.P174P	IGF1R_uc010urq.2_Silent_p.P174P|IGF1R_uc010bon.3_Silent_p.P174P	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	174					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGAATAAGCCCCCAAAGGAAT	0.517												
TEKT5	146279	broad.mit.edu	37	16	10788195	10788195	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr16:10788195G>A	uc002czz.1	-	0	608	c.536C>T	c.(535-537)gCg>gTg	p.A179V		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	179					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTCATTGGCCGCGCACTCCAG	0.577												
ITGAM	3684	broad.mit.edu	37	16	31286944	31286944	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr16:31286944C>T	uc002ebr.3	+	8	1031	c.933C>T	c.(931-933)caC>caT	p.H311H	ITGAM_uc002ebq.3_Silent_p.H311H|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	311	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTCGTGATCACGTGTTCCAGG	0.512												
CNGB1	1258	broad.mit.edu	37	16	57992360	57992360	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr16:57992360T>C	uc002emt.2	-	10	856	c.791A>G	c.(790-792)gAg>gGg	p.E264G	CNGB1_uc010cdh.2_Missense_Mutation_p.E258G|CNGB1_uc002emu.2_Missense_Mutation_p.E264G	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	264					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAAGGCCATCTCCAGCCTGTG	0.622												
CTDNEP1	23399	broad.mit.edu	37	17	7154554	7154554	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7154554C>T	uc002gfd.2	-	0	442	c.62G>A	c.(61-63)tGg>tAg	p.W21*	CTDNEP1_uc002gfe.2_Nonsense_Mutation_p.W21*|C17orf81_uc002gfg.1_5'Flank|C17orf81_uc010cmb.3_5'Flank|C17orf81_uc002gfh.1_5'Flank|C17orf81_uc002gfi.1_5'Flank|C17orf81_uc002gfj.3_5'Flank|C17orf81_uc002gfk.1_5'Flank|C17orf81_uc021toz.1_5'Flank	NM_001143775	NP_056158	O95476	CNEP1_HUMAN	Homo sapiens CTD nuclear envelope phosphatase 1 (CTDNEP1), transcript variant 2, mRNA.	21					nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAAGAAGCTCCAGAGCTTGGC	0.692												
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7577568C>A	uc002gim.2	-	6	907	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.3_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAACTGTTACACATGTAGTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
LSMD1	84316	broad.mit.edu	37	17	7760481	7760503	+	Frame_Shift_Del	DEL	CTCAGCCGCCGAGTCCTCGCGCT	CTCAGCCGCCGAGTCCTCGCGCT	-			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7760481_7760503delCTCAGCCGCCGAGTCCTCGCGCT	uc002gja.3	-	0	670_692	c.239_261delAGCGCGAGGACTCGGCGGCTGAG	c.(238-261)gagcgcgaggactcggcggctgagfs	p.E80fs	LSMD1_uc002giz.3_Frame_Shift_Del_p.E32fs|CYB5D1_uc002gjb.4_5'Flank|CYB5D1_uc021tpi.1_5'Flank	NM_032356	NP_115732	Q9BRA0	LSMD1_HUMAN	Homo sapiens LSM domain containing 1 (LSMD1), mRNA.	32						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GTCGGGCGCGCTCAGCCGCCGAGTCCTCGCGCTCTCCGTCCGA	0.682											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PER1	5187	broad.mit.edu	37	17	8048179	8048179	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:8048179G>A	uc002gkd.3	-	17	2589	c.2351C>T	c.(2350-2352)tCc>tTc	p.S784F	PER1_uc010cns.3_5'Flank|PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.S768F	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	784	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGTGTGCAGGGACAGCACGGC	0.682			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes				
LLGL1	3996	broad.mit.edu	37	17	18135847	18135847	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:18135847G>A	uc002gsp.3	+	2	279	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	73					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GGCCTGCACCGGGATGCAGCC	0.587												
MBTD1	54799	broad.mit.edu	37	17	49270165	49270165	+	Silent	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:49270165T>C	uc002itr.4	-	14	2012	c.1668A>G	c.(1666-1668)caA>caG	p.Q556Q	MBTD1_uc002itp.4_Silent_p.Q392Q|MBTD1_uc002itq.4_3'UTR	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	Homo sapiens mbt domain containing 1 (MBTD1), mRNA.	556					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q392Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGGCTGTAGTTGATATCCAG	0.423												
BRIP1	83990	broad.mit.edu	37	17	59761146	59761147	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:59761146_59761147insT	uc002izk.2	-	19	3566_3567	c.3260_3261insA	c.(3259-3261)aatfs	p.N1087fs		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	1087					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTTCAGAATGATTTTTTCTAGT	0.376			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks				
ZBTB7C	201501	broad.mit.edu	37	18	45566526	45566526	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr18:45566526G>A	uc010dnv.3	-	2	1455	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L	ZBTB7C_uc002ldb.3_Missense_Mutation_p.P318L|ZBTB7C_uc010dnu.3_Missense_Mutation_p.P327L|ZBTB7C_uc010dnw.3_Missense_Mutation_p.P318L|ZBTB7C_uc010dnx.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dny.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dnz.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doi.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doj.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dok.1_Missense_Mutation_p.P367L|ZBTB7C_uc010dol.1_Missense_Mutation_p.P327L|ZBTB7C_uc010doa.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dob.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doc.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dod.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doe.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dof.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dog.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doh.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dom.1_Missense_Mutation_p.P327L|ZBTB7C_uc010don.1_Missense_Mutation_p.P326L|ZBTB7C_uc010dop.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doq.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dor.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dos.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dot.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doo.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dou.1_Missense_Mutation_p.P327L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	318						intracellular	nucleic acid binding|zinc ion binding	p.P318L(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGCCCCCCCGGCAGGTCAGG	0.617												
C3	718	broad.mit.edu	37	19	6680198	6680198	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:6680198G>T	uc002mfm.3	-	35	4489	c.4427C>A	c.(4426-4428)gCa>gAa	p.A1476E		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1476					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GACCTTGACTGCTCCAGGCTG	0.512												
KANK3	256949	broad.mit.edu	37	19	8389585	8389585	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:8389585C>T	uc010dwa.3	-	8	2278	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K		NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	738										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CGCCCATACTCACTGGCACAC	0.627												
ZNF626	199777	broad.mit.edu	37	19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:20807460T>C	uc002npb.1	-	3	1373	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	ZNF626_uc002npc.1_Missense_Mutation_p.Y332C	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408												
ZNF257	113835	broad.mit.edu	37	19	22270778	22270778	+	Splice_Site	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:22270778G>A	uc010ecx.3	+	4	396	c.227_splice	c.e4-1	p.V76_splice	ZNF257_uc010ecy.3_Splice_Site_p.V44_splice	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTCTTTTAGTTATGTGTTC	0.294												
ZNF302	55900	broad.mit.edu	37	19	35175737	35175737	+	Silent	SNP	C	C	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:35175737C>G	uc002nvr.1	+	5	1190	c.927C>G	c.(925-927)gcC>gcG	p.A309A	ZNF302_uc002nvp.1_Silent_p.A265A|ZNF302_uc002nvq.1_Silent_p.A265A|ZNF302_uc002nvs.1_Silent_p.A265A	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q309Q(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTGGGAAGGCCTTTAGCCATG	0.448												
CGB8	94115	broad.mit.edu	37	19	49551985	49551985	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:49551985G>A	uc002pmb.4	-	0	384	c.12C>T	c.(10-12)ttC>ttT	p.F4F	CGB8_uc002pmc.3_Intron	NM_033183	NP_149439	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 8 (CGB8), mRNA.	4			F -> L (in dbSNP:rs6516).		apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GTCTTACCTGGAACATCTCCA	0.602												
C19orf18	147685	broad.mit.edu	37	19	58485726	58485726	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:58485726C>T	uc002qqv.3	-	0	177	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	25						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CATCTGCATACGGCAAGCATA	0.393												
FBLN7	129804	broad.mit.edu	37	2	112944813	112944813	+	Silent	SNP	G	G	A	rs140504449		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:112944813G>A	uc002tho.1	+	7	1321	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	FBLN7_uc010fki.1_Silent_p.T304T|FBLN7_uc010fkj.1_Silent_p.T216T	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	350					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTGAAGACGCCCATCACGC	0.652												
XIRP2	129446	broad.mit.edu	37	2	168103045	168103045	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:168103045C>T	uc002udx.3	+	8	5232	c.5143C>T	c.(5143-5145)Cgt>Tgt	p.R1715C	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1540C|XIRP2_uc010fpq.3_Missense_Mutation_p.R1493C|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1540					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGATGTCAAACGTACCATTCA	0.338												
ABCB11	8647	broad.mit.edu	37	2	169814525	169814525	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:169814525C>T	uc002ueo.1	-	18	2418	c.2292G>A	c.(2290-2292)gtG>gtA	p.V764V	ABCB11_uc010zda.1_Silent_p.V206V|ABCB11_uc010zdb.1_Silent_p.V240V	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	764	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGTCCCGTTCACAGCTGCAC	0.473												
TRAK2	66008	broad.mit.edu	37	2	202272228	202272229	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:202272228_202272229delAG	uc002uyb.4	-	2	629_630	c.183_184delCT	c.(181-186)ctctttfs	p.L61fs	TRAK2_uc002uyc.2_Frame_Shift_Del_p.L61fs	NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	61						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TCATATAGAAAGAGAGTGTCTA	0.460												
DES	1674	broad.mit.edu	37	2	220286194	220286194	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:220286194C>T	uc002vll.3	+	5	1242	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	386	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCGCCATCTGCGCGAGTACCA	0.622												
RALGAPA2	57186	broad.mit.edu	37	20	20571899	20571899	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:20571899C>T	uc002wrz.3	-	16	2406	c.2263G>A	c.(2263-2265)Gtg>Atg	p.V755M	RALGAPA2_uc002wry.3_Missense_Mutation_p.V370M|RALGAPA2_uc010zsg.2_Missense_Mutation_p.V203M	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	755					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGCTGTCCCACTGTGAGATGG	0.512												
MYLK2	85366	broad.mit.edu	37	20	30409482	30409482	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:30409482C>T	uc002wwq.2	+	3	816	c.714C>T	c.(712-714)tcC>tcT	p.S238S		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	238					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGAGAAATCCGAGGTGGGGC	0.637												
TTPAL	79183	broad.mit.edu	37	20	43115268	43115268	+	Silent	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:43115268T>C	uc002xmc.1	+	4	796	c.672T>C	c.(670-672)caT>caC	p.H224H	TTPAL_uc002xmd.1_Silent_p.H224H|TTPAL_uc010ggr.1_Silent_p.H37H	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	224	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAGCAGTCCATGTGGTGAATG	0.408												
TRAPPC10	7109	broad.mit.edu	37	21	45513965	45513965	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr21:45513965G>A	uc002zea.3	+	19	3188	c.3019G>A	c.(3019-3021)Gtg>Atg	p.V1007M	TRAPPC10_uc010gpo.3_Missense_Mutation_p.V718M|TRAPPC10_uc011afa.2_Missense_Mutation_p.V385M|TRAPPC10_uc011afb.1_Missense_Mutation_p.V112M	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1007					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.V1007L(2)|p.V1007A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAAGCAGTCGGTGTTCTTCGT	0.542												
COL6A1	1291	broad.mit.edu	37	21	47421892	47421892	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr21:47421892G>A	uc002zhu.1	+	30	2076	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	COL6A1_uc002zhv.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	658	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CAGGGCAGTCGTACGCGGGTG	0.652												
CCT8L2	150160	broad.mit.edu	37	22	17072055	17072055	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr22:17072055G>A	uc002zlp.1	-	0	1646	c.1386C>T	c.(1384-1386)gaC>gaT	p.D462D		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	462					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.D462H(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGCCATCACGTCTGAGACAG	0.527												
SETD5	55209	broad.mit.edu	37	3	9489393	9489393	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:9489393C>T	uc003brt.3	+	14	2241	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V	SETD5_uc003brs.1_Silent_p.V583V|SETD5_uc003bru.3_Silent_p.V504V|SETD5_uc003brv.3_Silent_p.V491V|SETD5_uc010hck.3_Silent_p.V84V|SETD5_uc003brx.3_Silent_p.V271V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	602										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AAAAACTAGTCCCCAAGCCAC	0.468												
FAM19A4	151647	broad.mit.edu	37	3	68929927	68929927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:68929927G>T	uc021xag.1	-	2	577	c.84C>A	c.(82-84)tgC>tgA	p.C28*	FAM19A4_uc021xah.1_Nonsense_Mutation_p.C28*|5S_rRNA_uc021xai.1_5'Flank	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	28						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCAGCTTACAGCACACCATTA	0.512												
CEP97	79598	broad.mit.edu	37	3	101476715	101476715	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:101476715G>T	uc003dvk.1	+	8	1292	c.1265G>T	c.(1264-1266)aGg>aTg	p.R422M	CEP97_uc010hpm.1_Missense_Mutation_p.R388M|CEP97_uc011bhf.1_Missense_Mutation_p.R363M|CEP97_uc003dvl.1_Missense_Mutation_p.R118M|CEP97_uc003dvm.1_Missense_Mutation_p.R260M	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	422	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTTGAGCTGAGGCTGCAGGGC	0.473												
SPON2	10417	broad.mit.edu	37	4	1165082	1165082	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:1165082G>T	uc003gco.4	-	2	742	c.413C>A	c.(412-414)gCg>gAg	p.A138E	SPON2_uc021xkj.1_Missense_Mutation_p.A138E|SPON2_uc010ibr.3_Missense_Mutation_p.A138E|SPON2_uc003gcm.1_Missense_Mutation_p.A56E	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	138	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	p.A138A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CTCCAGCTCCGCCGACGTCTG	0.786												
HELQ	113510	broad.mit.edu	37	4	84368060	84368060	+	Silent	SNP	T	T	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:84368060T>C	uc003hom.3	-	3	1499	c.1320A>G	c.(1318-1320)aaA>aaG	p.K440K	HELQ_uc010ikb.3_Intron|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	440	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGCTATGTCCTTTTTCAATAG	0.373								Other identified genes with known or suspected DNA repair function				
BMPR1B	658	broad.mit.edu	37	4	96075770	96075770	+	Silent	SNP	G	G	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:96075770G>C	uc003htm.4	+	12	1729	c.1455G>C	c.(1453-1455)ctG>ctC	p.L485L	BMPR1B_uc010ilb.3_Silent_p.L485L|BMPR1B_uc003htn.4_Silent_p.L485L	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	485	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	p.A484T(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TGACAGCCCTGCGGGTTAAGA	0.448												
DKK2	27123	broad.mit.edu	37	4	107845338	107845338	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:107845338G>A	uc003hyi.3	-	3	1258	c.553C>T	c.(553-555)Cga>Tga	p.R185*	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	185	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCTGATGATCGTAGGCAGGGG	0.448												
ZFR	51663	broad.mit.edu	37	5	32390482	32390482	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:32390482G>A	uc003jhr.1	-	11	2121	c.2041C>T	c.(2041-2043)Cgc>Tgc	p.R681C	ZFR_uc011cny.1_5'Flank	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	681					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATTCGGCGGCGATCATCCCAA	0.507												
CARTPT	9607	broad.mit.edu	37	5	71015195	71015195	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:71015195C>T	uc003kbv.2	+	0	206	c.75C>T	c.(73-75)acC>acT	p.T25T		NM_004291	NP_004282	Q16568	CART_HUMAN	Homo sapiens CART prepropeptide (CARTPT), mRNA.	25					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TGTTGGGTACCCGTGCCCAGG	0.657												
GCNT4	51301	broad.mit.edu	37	5	74325583	74325583	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:74325583C>A	uc003kdn.3	-	0	1142	c.280G>T	c.(280-282)Gac>Tac	p.D94Y		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	94					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TCAATGATGTCCCTTCTTCTT	0.403												
SLC36A2	153201	broad.mit.edu	37	5	150704898	150704898	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:150704898C>T	uc003lty.3	-	7	1089	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.R122Q|SLC36A2_uc010jhv.2_Missense_Mutation_p.R320Q	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	320					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTCCAAACCGCAGGTAGCC	0.532												
IL12B	3593	broad.mit.edu	37	5	158743808	158743808	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:158743808G>A	uc003lxr.1	-	6	914	c.872C>T	c.(871-873)aCg>aTg	p.T291M	RNU4ATAC_uc021ygw.1_5'Flank	NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	291	Fibronectin type-III.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCTTGTCCGTGAAGACTCT	0.512											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FOXF2	2295	broad.mit.edu	37	6	1391312	1391312	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:1391312A>G	uc003mtm.3	+	0	1244	c.1130A>G	c.(1129-1131)gAg>gGg	p.E377G		NM_001452	NP_001443	Q12947	FOXF2_HUMAN	Homo sapiens forkhead box F2 (FOXF2), mRNA.	377					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TACTCGCTGGAGCAGAGCTAC	0.682												
TFAP2A	7020	broad.mit.edu	37	6	10410393	10410393	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:10410393G>A	uc003myr.3	-	1	473	c.221C>T	c.(220-222)tCc>tTc	p.S74F	TFAP2A_uc003myq.3_Missense_Mutation_p.S68F|TFAP2A_uc003mys.3_Intron|TFAP2A_uc011dih.2_Missense_Mutation_p.S74F|TFAP2A_uc003myt.3_Missense_Mutation_p.S70F|TFAP2A_uc003myu.1_Missense_Mutation_p.S74F|TFAP2A_uc011dii.1_Missense_Mutation_p.S70F|LOC100130275_uc003myw.3_5'Flank	NM_003220	NP_003211	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.	74	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTTGACGTGGGAGTAAGGATC	0.682												
BAI3	577	broad.mit.edu	37	6	70042889	70042889	+	Silent	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:70042889A>G	uc010kak.3	+	22	3453	c.3177A>G	c.(3175-3177)aaA>aaG	p.K1059K	BAI3_uc003pev.4_Silent_p.K1059K|BAI3_uc011dxx.2_Silent_p.K265K	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1059					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAAGCTCAAACACAGAGCCG	0.398												
CDK19	23097	broad.mit.edu	37	6	110959910	110959910	+	Splice_Site	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:110959910C>T	uc003puh.1	-	5	530	c.457_splice	c.e5-1	p.K153_splice	CDK19_uc003pui.1_Splice_Site_p.K93_splice|CDK19_uc011eax.1_Splice_Site_p.K29_splice	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	153	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TTGCTGGTTTCTAGAAATAAA	0.289												
C6orf170	221322	broad.mit.edu	37	6	121560260	121560260	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:121560260G>A	uc003pyo.1	-	19	2388	c.2320C>T	c.(2320-2322)Ccc>Tcc	p.P774S	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Missense_Mutation_p.P293S	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	774					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		GTAGTTCTGGGATGGGTTACC	0.333												
LPA	4018	broad.mit.edu	37	6	160998167	160998167	+	Splice_Site	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:160998167C>T	uc003qtl.3	-	29	4751	c.4631_splice	c.e29+1	p.A1544_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4052	Kringle 14.				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)	CAAATACATACGCATTTGGGT	0.433												
SLC29A4	222962	broad.mit.edu	37	7	5331368	5331368	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:5331368G>A	uc003sod.3	+	4	621	c.460G>A	c.(460-462)Gac>Aac	p.D154N	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.D154N|SLC29A4_uc003soe.3_Silent_p.A141A	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	154					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CAGCATCTGCGACGTGTGGCT	0.647												
GRM3	2913	broad.mit.edu	37	7	86468659	86468659	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:86468659C>T	uc003uid.3	+	3	2928	c.1829C>T	c.(1828-1830)tCg>tTg	p.S610L	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.S482L|GRM3_uc010leh.3_Missense_Mutation_p.S202L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	610					synaptic transmission	integral to plasma membrane		p.S610L(4)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTCAAAGCATCGGGCCGAGAA	0.468												
TECPR1	25851	broad.mit.edu	37	7	97858368	97858368	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:97858368C>T	uc003upg.3	-	15	2598	c.2393G>A	c.(2392-2394)gGa>gAa	p.G798E	TECPR1_uc003uph.1_Missense_Mutation_p.G728E	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	798						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCAGCCGCCTCCATAGCCGCC	0.677												
CYP3A4	1576	broad.mit.edu	37	7	99359709	99359709	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:99359709C>T	uc003urv.2	-	10	1315	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	CYP3A4_uc003urw.2_Missense_Mutation_p.R402H|CYP3A4_uc011kiz.2_Missense_Mutation_p.R362H	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	403					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTTTGGGTCACGGTGAAGAGC	0.507												
ACHE	43	broad.mit.edu	37	7	100490909	100490909	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:100490909G>A	uc003uxd.3	-	0	1101	c.945C>T	c.(943-945)caC>caT	p.H315H	ACHE_uc003uxe.3_Silent_p.H315H|ACHE_uc003uxf.3_Silent_p.H315H|ACHE_uc003uxg.3_Silent_p.H315H|ACHE_uc003uxh.3_Silent_p.H315H|ACHE_uc003uxi.3_Silent_p.H315H|ACHE_uc003uxj.1_Silent_p.H434H	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	315					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CGTGCCATTCGTGGTTCACCA	0.607												
MUC17	140453	broad.mit.edu	37	7	100692247	100692247	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:100692247G>A	uc003uxp.1	+	4	12710	c.12657G>A	c.(12655-12657)acG>acA	p.T4219T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4219	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGACATTCACGGAACAGGTAA	0.507												
EPHB6	2051	broad.mit.edu	37	7	142561409	142561409	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:142561409G>A	uc011kst.2	+	5	908	c.121G>A	c.(121-123)Gga>Aga	p.G41R	EPHB6_uc011ksu.2_Missense_Mutation_p.G41R|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	41						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGACACCACCGGAGAGACATC	0.597												
OR2A12	346525	broad.mit.edu	37	7	143792982	143792982	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:143792982C>A	uc011kty.2	+	0	782	c.782C>A	c.(781-783)cCc>cAc	p.P261H		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TACATGGCCCCCAAGTCAAGC	0.547												
DLC1	10395	broad.mit.edu	37	8	12952344	12952344	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:12952344C>T	uc003wwm.2	-	11	3894	c.3450G>A	c.(3448-3450)ctG>ctA	p.L1150L	DLC1_uc003wwk.1_Silent_p.L713L|DLC1_uc003wwl.1_Silent_p.L747L|DLC1_uc011kxx.1_Silent_p.L639L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1150	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AATACTGCTTCAGCATGTCTG	0.468												
TUSC3	7991	broad.mit.edu	37	8	15531274	15531274	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:15531274A>G	uc003wwt.3	+	5	1071	c.727A>G	c.(727-729)Act>Gct	p.T243A	TUSC3_uc003wwu.3_Missense_Mutation_p.T243A	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	243					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTTTGCTATGACTTCTGGCCA	0.383												
SFTPC	6440	broad.mit.edu	37	8	22020640	22020640	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:22020640C>T	uc003xaw.4	+	5	1099	c.396C>T	c.(394-396)gcC>gcT	p.A132A	SFTPC_uc003xax.4_Silent_p.A83A|SFTPC_uc003xay.4_Silent_p.A83A|SFTPC_uc003xaz.3_Silent_p.A83A|SFTPC_uc011kza.1_Silent_p.A83A|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	83	BRICHOS.				respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AACGCCTGGCCCTGAGTGAGC	0.617												
ADAMDEC1	27299	broad.mit.edu	37	8	24256489	24256489	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:24256489A>G	uc003xdz.2	+	8	1085	c.865A>G	c.(865-867)Aac>Gac	p.N289D	ADAMDEC1_uc010lub.2_Missense_Mutation_p.N210D|ADAMDEC1_uc011lab.1_Missense_Mutation_p.N210D	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	289	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CACGTTTGACAACTTCCTGAG	0.488												
JAK2	3717	broad.mit.edu	37	9	5080558	5080558	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:5080558A>T	uc010mhm.3	+	16	2422	c.2309A>T	c.(2308-2310)cAt>cTt	p.H770L	JAK2_uc003ziw.3_Missense_Mutation_p.H770L	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	770	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GAAGATAGGCATCAGCTTCCT	0.358		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial			
FAM120A	23196	broad.mit.edu	37	9	96289441	96289441	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:96289441A>C	uc004atw.3	+	7	1448	c.1423A>C	c.(1423-1425)Atc>Ctc	p.I475L	FAM120A_uc004atv.3_Missense_Mutation_p.I475L|FAM120A_uc004atx.3_Missense_Mutation_p.I257L|FAM120A_uc004aty.3_Missense_Mutation_p.I256L|FAM120A_uc004atz.3_Missense_Mutation_p.I124L|FAM120A_uc010mrf.1_Non-coding_Transcript	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	475						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTTAGCCATATCAGCGGGAA	0.463												
ZNF169	169841	broad.mit.edu	37	9	97063382	97063382	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:97063382C>T	uc022bki.1	+	3	1600	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y	ZNF169_uc004aum.1_Silent_p.Y514Y	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	514						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGGAGCTTTACGTAGACAGGG	0.537												
TUBBP5	643224	broad.mit.edu	37	9	141070969	141070969	+	Silent	SNP	A	A	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:141070969A>G	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.A196A(1)									TAGAAAACGCAGATGAGACCT	0.517												
RAI2	10742	broad.mit.edu	37	X	17819726	17819726	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:17819726G>A	uc022btm.1	-	0	405	c.405C>T	c.(403-405)aaC>aaT	p.N135N	RAI2_uc004cyf.3_Silent_p.N135N|RAI2_uc004cyg.3_Silent_p.N135N|RAI2_uc011miy.2_Silent_p.N85N|RAI2_uc022btl.1_Silent_p.N135N|RAI2_uc004cyh.4_Silent_p.N135N|RAI2_uc010nfa.3_Silent_p.N135N	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	135					embryo development			p.N135D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCAGAGGGGAGTTGAGGTGCT	0.642												
ACOT9	23597	broad.mit.edu	37	X	23731303	23731303	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:23731303G>T	uc004dao.3	-	8	757	c.611C>A	c.(610-612)cCt>cAt	p.P204H	ACOT9_uc004dap.3_Missense_Mutation_p.P195H|ACOT9_uc011mjt.2_Intron|ACOT9_uc004dar.3_Missense_Mutation_p.P135H|ACOT9_uc004dat.1_Missense_Mutation_p.P195H	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	195					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	p.V204M(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						ATCCAAAACAGGACAAAATTC	0.328												
FAM47C	442444	broad.mit.edu	37	X	37027694	37027694	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:37027694C>T	uc004ddl.2	+	0	1263	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	404										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTCTCTTCCCGGAGCCTCCC	0.607												
SYN1	6853	broad.mit.edu	37	X	47478794	47478794	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:47478794C>G	uc004die.3	-	0	463	c.334G>C	c.(334-336)Gcc>Ccc	p.A112P	SYN1_uc004did.3_Missense_Mutation_p.A112P	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	112	B; linker.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity	p.A111A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						ACCCTGGAGGCGGCTCCCCCG	0.716												
ZNF182	7569	broad.mit.edu	37	X	47836621	47836621	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:47836621G>A	uc004dir.3	-	6	1211	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	ZNF182_uc004dis.3_Missense_Mutation_p.P270S|ZNF182_uc004dit.3_Missense_Mutation_p.P289S	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CACTCAAAGGGTCTCTCTCCT	0.403												
SMC1A	8243	broad.mit.edu	37	X	53439849	53439849	+	Splice_Site	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:53439849C>T	uc004dsg.3	-	5	923	c.854_splice	c.e5+1	p.K285_splice	SMC1A_uc011moe.2_Splice_Site_p.K263_splice|SMC1A_uc011mof.2_Intron	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	285					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTGCCTCTTACTTGAtctcct	0.502												
P2RY10	27334	broad.mit.edu	37	X	78216911	78216911	+	Silent	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:78216911C>T	uc022bzl.1	+	0	894	c.894C>T	c.(892-894)tgC>tgT	p.C298C	P2RY10_uc004ede.3_Silent_p.C298C|P2RY10_uc004edf.3_Silent_p.C298C	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	298						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GTCTCTGCTGCCTTTTGGATC	0.483												
PABPC5	140886	broad.mit.edu	37	X	90690820	90690820	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:90690820G>T	uc022bzs.1	+	0	244	c.244G>T	c.(244-246)Gat>Tat	p.D82Y	PABPC5_uc004efg.3_Missense_Mutation_p.D82Y	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	82	RRM 1.					cytoplasm	nucleotide binding|RNA binding	p.F81L(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CATGAATTTTGATTTGATTAA	0.483												
PABPC5	140886	broad.mit.edu	37	X	90690988	90690988	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:90690988G>A	uc022bzs.1	+	0	412	c.412G>A	c.(412-414)Gta>Ata	p.V138I	PABPC5_uc004efg.3_Missense_Mutation_p.V138I	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	138	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTGCAAAGTCGTATGCGATGA	0.453												
BHLHB9	80823	broad.mit.edu	37	X	102005060	102005060	+	Silent	SNP	T	T	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:102005060T>A	uc022cbi.1	+	0	1137	c.1137T>A	c.(1135-1137)ccT>ccA	p.P379P	BHLHB9_uc010nog.3_Silent_p.P379P|BHLHB9_uc011mrq.2_Silent_p.P379P|BHLHB9_uc011mrr.2_Silent_p.P379P|BHLHB9_uc011mrs.2_Silent_p.P379P|BHLHB9_uc011mrt.2_Silent_p.P379P|BHLHB9_uc004ejo.3_Silent_p.P379P|BHLHB9_uc011mru.2_Silent_p.P379P|BHLHB9_uc011mrv.2_Silent_p.P379P	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	379						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTCCTTCCCCTGAAATGAGAA	0.378												
AKAP14	158798	broad.mit.edu	37	X	119048716	119048716	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:119048716G>C	uc004ese.3	+	4	454	c.316G>C	c.(316-318)Gac>Cac	p.D106H	AKAP14_uc004esf.3_Intron	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA.	106						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AGAGAGGAAAGACTTAATTCA	0.408												
DCAF12L2	340578	broad.mit.edu	37	X	125299171	125299171	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:125299171C>T	uc004euk.2	-	0	910	c.737G>A	c.(736-738)cGt>cAt	p.R246H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	246										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCCTCGGACGGATGTGGGC	0.647												
ZNF449	203523	broad.mit.edu	37	X	134494349	134494349	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:134494349C>G	uc004eys.3	+	4	1070	c.905C>G	c.(904-906)tCc>tGc	p.S302C	ZNF449_uc004eyt.3_Missense_Mutation_p.S182C|ZNF449_uc004eyu.3_Missense_Mutation_p.S108C	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	302					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGAACTCCAACTTGGAA	0.468												
FLNA	2316	broad.mit.edu	37	X	153581222	153581222	+	Silent	SNP	G	G	A			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:153581222G>A	uc004fkk.2	-	38	6546	c.6297C>T	c.(6295-6297)gaC>gaT	p.D2099D	FLNA_uc011mzn.1_Silent_p.D232D|FLNA_uc010nuu.1_Silent_p.D2091D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2099					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCACGTCCCGTCCTCCAGGT	0.602												
