Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CCDC18	343099	broad.mit.edu	37	1	93651989	93651989	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:93651989G>A	ENST00000343253.7	+	4	893	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	CCDC18_ENST00000557479.1_Missense_Mutation_p.V249I|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.V131I			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	131										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGCTTGTTTGGTCACACAGAA	0.343000													29	78					0	0	0.006320	0	0
ZNF14	7561	broad.mit.edu	37	19	19822314	19822314	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:19822314A>T	ENST00000344099.3	-	4	1914	c.1776T>A	c.(1774-1776)tgT>tgA	p.C592*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AGGCTTTCCCACATTGTTTAC	0.383000													50	74					0	0	0.014410	0	0
FOXG1	2290	broad.mit.edu	37	14	29237742	29237742	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:29237742C>T	ENST00000382535.3	+	2	1626	c.1257C>T	c.(1255-1257)ccC>ccT	p.P419P	FOXG1_ENST00000313071.4_Silent_p.P419P			P55316	FOXG1_HUMAN	forkhead box G1	419					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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 activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACTTTTTCCCCCACGTCCCGC	0.687000													32	67					0	0	0.009535	0	0
TIPARP	25976	broad.mit.edu	37	3	156411959	156411959	+	Silent	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:156411959A>T	ENST00000461166.1	+	3	1656	c.1068A>T	c.(1066-1068)ggA>ggT	p.G356G	TIPARP_ENST00000486483.1_Silent_p.G356G|TIPARP_ENST00000295924.7_Silent_p.G356G|TIPARP_ENST00000542783.1_Silent_p.G356G	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	356	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCACTTTGGATGGAGAGAGT	0.373000													69	225					0	0	0.014410	0	0
GID8	54994	broad.mit.edu	37	20	61572952	61572952	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr20:61572952T>A	ENST00000266069.3	+	2	245	c.98T>A	c.(97-99)aTc>aAc	p.I33N		NM_017896.2	NP_060366.1			GID complex subunit 8																		AACCGCCTCATCATGAACTAC	0.438000													26	80					0	0	0.007291	0	0
KLF4	9314	broad.mit.edu	37	9	110250031	110250031	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:110250031G>A	ENST00000374672.4	-	3	1117	c.644C>T	c.(643-645)cCg>cTg	p.P215L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	215	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CGGCTGCTGCGGCGGAATGTA	0.687000													6	5					0	0	0.006214	0	0
THADA	63892	broad.mit.edu	37	2	43776495	43776495	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:43776495C>A	ENST00000405006.4	-	20	3311	c.2960G>T	c.(2959-2961)cGc>cTc	p.R987L	THADA_ENST00000330266.7_Missense_Mutation_p.R697L|THADA_ENST00000415080.2_Missense_Mutation_p.R697L|THADA_ENST00000405975.2_Missense_Mutation_p.R987L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	987							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CATCTGTAAGCGGCTTGCTGA	0.383000													3	11					0.004672	0.00494468	0.004672	1	0
OR2L3	391192	broad.mit.edu	37	1	248224038	248224038	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:248224038C>A	ENST00000359959.3	+	1	55	c.55C>A	c.(55-57)Cca>Aca	p.P19T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTCTTCCCACCATCAAGAAT	0.393000													98	436					7.79711e-59	1.08205e-58	0.014410	1	0
TTN	7273	broad.mit.edu	37	2	179590124	179590124	+	Missense_Mutation	SNP	C	C	G	rs2742326		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:179590124C>G	ENST00000589042.1	-	71	21031	c.20807G>C	c.(20806-20808)aGg>aCg	p.R6936T	TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R6619T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R5692T|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6619	Ig-like 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTTCTCCCTCATTCCACC	0.418000													8	12					0	0	0.003080	0	0
SPEG	10290	broad.mit.edu	37	2	220312735	220312735	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:220312735C>T	ENST00000312358.7	+	4	987	c.855C>T	c.(853-855)gaC>gaT	p.D285D	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.D181D|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	285	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGGAGCCCGACCTTCAGCCTC	0.672000													12	34					0	0	0.013537	0	0
PROX1	5629	broad.mit.edu	37	1	214178607	214178607	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:214178607G>A	ENST00000366958.4	+	3	2433	c.1825G>A	c.(1825-1827)Gac>Aac	p.D609N	PROX1_ENST00000261454.4_Missense_Mutation_p.D609N|PROX1_ENST00000498508.2_Missense_Mutation_p.D609N|PROX1_ENST00000435016.1_Missense_Mutation_p.D609N	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	609					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTACTTCTCCGACGTAAAGGT	0.378000													22	97					0	0	0.012319	0	0
TOX4	9878	broad.mit.edu	37	14	21957451	21957451	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:21957451C>G	ENST00000405508.1	+	6	975	c.699C>G	c.(697-699)ttC>ttG	p.F233L	TOX4_ENST00000448790.2_Missense_Mutation_p.F210L|TOX4_ENST00000262709.3_Missense_Mutation_p.F233L			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	233						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		ATGCTTTATTCTTTCGTGATA	0.448000													30	405					0	0	0.012213	0	0
TRERF1	55809	broad.mit.edu	37	6	42231259	42231259	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:42231259C>A	ENST00000541110.1	-	8	2251	c.1683G>T	c.(1681-1683)ccG>ccT	p.P561P	TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372922.4_Silent_p.P561P|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	561	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P561P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			gaggcggaggcggcagtggtg	0.637000													12	36					4.26978e-12	4.9211e-12	0.018920	1	0
CUX1	1523	broad.mit.edu	37	7	101839913	101839913	+	Splice_Site	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:101839913G>A	ENST00000360264.3	+	15	1275		c.e15-1		CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000550008.2_Splice_Site|CUX1_ENST00000549414.2_Splice_Site|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Splice_Site	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1						negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTTCCTTGTAGGGTCAGCCAG	0.552000													35	135					0	0	0.015359	0	0
SORBS2	8470	broad.mit.edu	37	4	186544587	186544587	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:186544587G>T	ENST00000431808.1	-	14	2547	c.1984C>A	c.(1984-1986)Ccg>Acg	p.P662T	SORBS2_ENST00000284776.7_Missense_Mutation_p.P662T|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P762T|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P566T|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	662						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGGAGGCCGGGCACCTGCCT	0.552000													63	128					3.86002e-21	5.02356e-21	0.014410	1	0
LAMC1	3915	broad.mit.edu	37	1	183093839	183093839	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:183093839C>T	ENST00000258341.4	+	14	2732	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	825	Laminin EGF-like 7.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGACTTTGCCGCCTGTGCC	0.507000													4	105					0	0	0.009096	0	0
ANKLE2	23141	broad.mit.edu	37	12	133331554	133331554	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:133331554C>G	ENST00000539605.1	-	1	6845	c.161G>C	c.(160-162)aGg>aCg	p.R54T	ANKLE2_ENST00000357997.5_Missense_Mutation_p.R116T|ANKLE2_ENST00000337516.5_Missense_Mutation_p.R116T			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	116						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGAAGACAGCCTTCCTCCTTG	0.473000													44	79					0	0	0.007835	0	0
TTC29	83894	broad.mit.edu	37	4	147741347	147741347	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:147741347G>A	ENST00000513335.1	-	11	1308	c.1109C>T	c.(1108-1110)gCa>gTa	p.A370V	TTC29_ENST00000325106.4_Missense_Mutation_p.A344V|TTC29_ENST00000398886.4_Missense_Mutation_p.A370V			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	344							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					ATTGTTTCTTGCAATTTTCAC	0.333000													8	108					0	0	0.003080	0	0
CCDC73	493860	broad.mit.edu	37	11	32781750	32781750	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:32781750T>A	ENST00000531481.1	-	2	316	c.40A>T	c.(40-42)Act>Tct	p.T14S	CCDC73_ENST00000534415.1_5'UTR|CCDC73_ENST00000335185.5_Missense_Mutation_p.T14S			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	14										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					CTTTGAAGAGTAAAAGTAGAT	0.299000													55	124					0	0	0.014410	0	0
ZNF451	26036	broad.mit.edu	37	6	57015556	57015556	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:57015556G>T	ENST00000370706.4	+	11	2892	c.2648G>T	c.(2647-2649)cGa>cTa	p.R883L	RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Intron|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R883L|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	883					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATTACCTGCGAACCATGACT	0.358000													58	174					2.40265e-35	3.25135e-35	0.014410	1	0
PCDHGA2	56113	broad.mit.edu	37	5	140720647	140720647	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140720647C>T	ENST00000394576.2	+	1	2109	c.2109C>T	c.(2107-2109)gtC>gtT	p.V703V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTGCGTCTTCCTGGCCT	0.652000													60	165					0	0	0.014410	0	0
LRFN5	145581	broad.mit.edu	37	14	42356462	42356462	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:42356462C>A	ENST00000554171.1	+	5	3066	c.634C>A	c.(634-636)Cct>Act	p.P212T	LRFN5_ENST00000554120.1_Missense_Mutation_p.P212T|LRFN5_ENST00000298119.4_Missense_Mutation_p.P212T			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	212						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAAGCTACCACCTGACCCTCT	0.433000										HNSCC(30;0.082)			41	130					5.71845e-15	6.79222e-15	0.023175	1	0
OR2B11	127623	broad.mit.edu	37	1	247615247	247615247	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:247615247G>T	ENST00000318749.6	-	1	61	c.38C>A	c.(37-39)cCt>cAt	p.P13H		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAAGGCTTTAGGGGAGTCCCC	0.493000													38	124					2.51541e-25	3.33752e-25	0.021022	1	0
TAC3	6866	broad.mit.edu	37	12	57409476	57409476	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:57409476G>T	ENST00000458521.2	-	2	265	c.106C>A	c.(106-108)Cgc>Agc	p.R36S	TAC3_ENST00000415231.1_Missense_Mutation_p.R36S|TAC3_ENST00000441881.1_Missense_Mutation_p.R36S	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	36					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ACCTTGCTGCGGCCCCCGCCA	0.602000													17	153					1.56452e-12	1.81859e-12	0.007413	1	0
CSMD3	114788	broad.mit.edu	37	8	113237020	113237020	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:113237020T>C	ENST00000297405.5	-	71	11348	c.11104A>G	c.(11104-11106)Acg>Gcg	p.T3702A	CSMD3_ENST00000352409.3_Missense_Mutation_p.T3632A|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3662A|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3533A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3702						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGCAAACCGTGTTCAAGTTG	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			134	262					0	0	0.014410	0	0
CHTF8	54921	broad.mit.edu	37	16	69155027	69155027	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:69155027C>A	ENST00000448552.2	-	3	191	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	CHTF8_ENST00000398235.2_Missense_Mutation_p.G24W|CHTF8_ENST00000522091.1_Missense_Mutation_p.G24W|CHTF8_ENST00000520529.1_Intron|CHTF8_ENST00000519520.1_Intron|CHTF8_ENST00000523421.1_Missense_Mutation_p.G24W|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000518041.1_Missense_Mutation_p.G24W	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	24					cell cycle|DNA replication	nucleus	DNA binding										TCGATCTCCCCCTGTAGCTCC	0.542000													36	253					6.97489e-18	8.70261e-18	0.021022	1	0
SEC23A	10484	broad.mit.edu	37	14	39517935	39517935	+	Splice_Site	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:39517935T>A	ENST00000537403.1	-	11	2256		c.e11-2		SEC23A_ENST00000307712.6_Splice_Site|SEC23A_ENST00000536508.1_Splice_Site|SEC23A_ENST00000545328.2_Splice_Site			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TTTCTGACACTAAATAAAATA	0.313000													12	71					0	0	0.010729	0	0
FAM46D	169966	broad.mit.edu	37	X	79698219	79698219	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:79698219G>C	ENST00000538312.1	+	5	515	c.181G>C	c.(181-183)Gcc>Ccc	p.A61P	FAM46D_ENST00000308293.5_Missense_Mutation_p.A61P	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	61										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGTTAAAGATGCCAGATTGAA	0.398000													52	44					0	0	0.014410	0	0
USP34	9736	broad.mit.edu	37	2	61508321	61508321	+	Silent	SNP	C	C	T	rs4645002		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:61508321C>T	ENST00000398571.2	-	38	5131	c.5055G>A	c.(5053-5055)ctG>ctA	p.L1685L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1685					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTCCTCCATCCAGCCCTGACA	0.403000													9	32					0	0	0.010729	0	0
DMBT1	1755	broad.mit.edu	37	10	124351999	124351999	+	Silent	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:124351999T>A	ENST00000368909.3	+	20	2494	c.2388T>A	c.(2386-2388)gtT>gtA	p.V796V	DMBT1_ENST00000338354.3_Silent_p.V796V|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Silent_p.V786V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Silent_p.V786V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	796	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACCCATTGTTCTGGATGATG	0.602000													7	283					0	0	0.004482	0	0
PTPN14	5784	broad.mit.edu	37	1	214557343	214557343	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:214557343G>C	ENST00000366956.5	-	13	2049	c.1855C>G	c.(1855-1857)Cag>Gag	p.Q619E	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	619					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGGAGAGACTGATGAACCACC	0.637000													24	65					0	0	0.027356	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45848262	45848262	+	RNA	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:45848262A>G	ENST00000409454.1	+	0	1257																											ATGTTAGTACACAGAATACTT	0.338000													5	7					0	0	0.014758	0	0
HCN1	348980	broad.mit.edu	37	5	45353210	45353210	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:45353210G>C	ENST00000303230.4	-	5	1426	c.1369C>G	c.(1369-1371)Ctg>Gtg	p.L457V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L457M(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCTCTCTCAGAGGATCATTG	0.348000													31	90					0	0	0.008361	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938694	2938694	+	Silent	SNP	C	C	T	rs17845890		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:2938694C>T	ENST00000378404.2	+	1	649	c.444C>T	c.(442-444)gcC>gcT	p.A148A		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	148						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTCTCTACGCCTCTGCCTGTG	0.622000													20	87					0	0	0.010504	0	0
STK38L	23012	broad.mit.edu	37	12	27467947	27467947	+	Splice_Site	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:27467947G>A	ENST00000389032.3	+	8	841		c.e8-1		STK38L_ENST00000539577.1_Splice_Site	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like						intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TTTTTTTTTAGGGTCATGTAA	0.289000													4	109					0	0	0.009096	0	0
MIA3	375056	broad.mit.edu	37	1	222803588	222803588	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:222803588A>G	ENST00000344922.5	+	4	3051	c.3026A>G	c.(3025-3027)aAt>aGt	p.N1009S	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.N1009S|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1009					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATGAACGAAAATAACATATTT	0.433000													35	140					0	0	0.019004	0	0
FAM135B	51059	broad.mit.edu	37	8	139153488	139153488	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:139153488C>G	ENST00000395297.1	-	17	3913	c.3743G>C	c.(3742-3744)gGg>gCg	p.G1248A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1248										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGTGAGGCCCAGAGAGTGA	0.522000										HNSCC(54;0.14)			20	108					0	0	0.014323	0	0
POU4F2	5458	broad.mit.edu	37	4	147561057	147561057	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:147561057C>A	ENST00000281321.3	+	2	575	c.327C>A	c.(325-327)gcC>gcA	p.A109A		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	109					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GTCTGCTGGCCCGCGCCGAGG	0.602000													8	26					9.70103e-10	1.10405e-09	0.008291	1	0
SNHG14	104472715	broad.mit.edu	37	15	25479394	25479394	+	RNA	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:25479394G>C	ENST00000453082.2	+	0	1891				SNORD115-35_ENST00000365122.1_RNA	NR_003343.1																						GCCCTGGGTTGGGTCAATGAT	0.498000													4	259					0	0	0.009096	0	0
FBXO40	51725	broad.mit.edu	37	3	121340297	121340297	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:121340297C>A	ENST00000338040.4	+	3	435	c.21C>A	c.(19-21)tcC>tcA	p.S7S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	7					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCCGCAGATCCCCGCCAGGGC	0.532000													37	235					2.47316e-13	2.89956e-13	0.015359	1	0
C1orf123	54987	broad.mit.edu	37	1	53683848	53683848	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:53683848T>A	ENST00000294360.4	-	5	298	c.257A>T	c.(256-258)tAc>tTc	p.Y86F	C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	86										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						ACTTACATTGTAAGGCTTGAT	0.488000													6	32					0	0	0.001984	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249112	90249112	+	RNA	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:90249112C>A	ENST00000468879.1	+	0	249																											GCCAGATGTGCCATCCGGATG	0.473000													53	202					4.33383e-22	5.6947e-22	0.014410	1	0
CSMD3	114788	broad.mit.edu	37	8	113256623	113256623	+	Splice_Site	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:113256623C>T	ENST00000297405.5	-	65	10646	c.10402_splice	c.e65+1	p.A3468_splice	CSMD3_ENST00000352409.3_Splice_Site_p.A3398_splice|CSMD3_ENST00000343508.3_Splice_Site_p.A3428_splice|CSMD3_ENST00000455883.2_Splice_Site_p.A3299_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3468	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAAACTTACCTTCACAAATG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			25	161					0	0	0.006320	0	0
C5orf48	389320	broad.mit.edu	37	5	125971893	125971893	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:125971893G>A	ENST00000357147.3	+	3	378	c.365G>A	c.(364-366)aGc>aAc	p.S122N		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	122										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						AGATACCAAAGCACTGTGATT	0.403000													25	143					0	0	0.018920	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117407111	117407111	+	Splice_Site	SNP	A	A	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:117407111A>C	ENST00000160373.3	-	9	2988		c.e9+1			NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2											breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AACATCACTCACTCAGATTCT	0.458000													28	108					0	0	0.008361	0	0
CFI	3426	broad.mit.edu	37	4	110667391	110667391	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:110667391C>G	ENST00000394634.2	-	11	1623	c.1416G>C	c.(1414-1416)tgG>tgC	p.W472C	CFI_ENST00000512148.1_Missense_Mutation_p.W465C|CFI_ENST00000394635.3_Missense_Mutation_p.W480C	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	472	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TTTCTCGTCCCCAGCCAGAAA	0.418000													29	89					0	0	0.027356	0	0
DZIP3	9666	broad.mit.edu	37	3	108403092	108403092	+	Silent	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:108403092G>C	ENST00000361582.3	+	27	3143	c.2913G>C	c.(2911-2913)gtG>gtC	p.V971V	DZIP3_ENST00000463306.1_Silent_p.V971V	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	971					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GACCTCTTGTGAAAGAATCTT	0.413000													117	417					0	0	0.014410	0	0
AFTPH	54812	broad.mit.edu	37	2	64780055	64780055	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:64780055G>T	ENST00000422803.1	+	2	1761	c.1447G>T	c.(1447-1449)Gat>Tat	p.D483Y	AFTPH_ENST00000409933.1_Missense_Mutation_p.D483Y|AFTPH_ENST00000409183.1_Missense_Mutation_p.D114Y|AFTPH_ENST00000238856.4_Missense_Mutation_p.D483Y|AFTPH_ENST00000238855.7_Missense_Mutation_p.D483Y|AFTPH_ENST00000487769.1_3'UTR			Q6ULP2	AFTIN_HUMAN	aftiphilin	483					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AGAATTTGGGGATATAAATGC	0.368000													33	172					3.33393e-15	3.99485e-15	0.021022	1	0
SPTBN2	6712	broad.mit.edu	37	11	66460712	66460712	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:66460712G>A	ENST00000533211.1	-	24	5130	c.4799C>T	c.(4798-4800)gCg>gTg	p.A1600V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1600V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1600V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1600					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCAGGCCTCCGCCTCGGCGGC	0.622000													32	111					0	0	0.012213	0	0
USP40	55230	broad.mit.edu	37	2	234465564	234465564	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:234465564C>A	ENST00000251722.6	-	5	600	c.483G>T	c.(481-483)ctG>ctT	p.L161L	USP40_ENST00000450966.1_Silent_p.L173L|USP40_ENST00000427112.2_Silent_p.L161L			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	161					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTCCATGGTACAGACGATAGA	0.403000													21	65					7.41877e-09	8.16966e-09	0.012319	1	0
DNAH5	1767	broad.mit.edu	37	5	13716599	13716599	+	Silent	SNP	G	G	T	rs113914833		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:13716599G>T	ENST00000265104.4	-	74	13010	c.12906C>A	c.(12904-12906)atC>atA	p.I4302I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4302					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAACCTGGATATACTGAA	0.333000									Kartagener syndrome				19	46					3.8784e-16	4.73061e-16	0.012319	1	0
ZNF184	7738	broad.mit.edu	37	6	27424701	27424701	+	Splice_Site	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:27424701C>T	ENST00000211936.6	-	5	487		c.e5-1		ZNF184_ENST00000377419.1_Splice_Site	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACTTGGAGTCCTGTTCATTAG	0.408000													56	124					0	0	0.014410	0	0
INPP4B	8821	broad.mit.edu	37	4	143350367	143350367	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:143350367A>G	ENST00000513000.1	-	6	528	c.95T>C	c.(94-96)aTc>aCc	p.I32T	INPP4B_ENST00000508116.1_Missense_Mutation_p.I32T|INPP4B_ENST00000506217.1_Missense_Mutation_p.I32T|INPP4B_ENST00000262992.4_Missense_Mutation_p.I32T|INPP4B_ENST00000308502.4_Missense_Mutation_p.I32T|INPP4B_ENST00000507861.1_Missense_Mutation_p.I32T|INPP4B_ENST00000509777.1_Missense_Mutation_p.I32T	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	32	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AGTCTTCTGGATACCTATAAA	0.274000													15	30					0	0	0.004990	0	0
IL6ST	3572	broad.mit.edu	37	5	55250717	55250717	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:55250717C>A	ENST00000381298.2	-	11	1683	c.1371G>T	c.(1369-1371)tgG>tgT	p.W457C	IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000502326.3_Missense_Mutation_p.W457C|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.W457C|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000381293.2_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	457	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAACACACACCACTCAAGTA	0.423000			O		hepatocellular ca								46	320					1.35964e-18	1.71214e-18	0.014410	1	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733088	56733088	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:56733088G>A	ENST00000587340.1	-	7	2042	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	ZSCAN5A_ENST00000592355.1_Silent_p.F448F|ZSCAN5A_ENST00000587492.1_Silent_p.F303F|ZSCAN5A_ENST00000254165.3_Silent_p.F332F|ZSCAN5A_ENST00000391713.1_Silent_p.F449F			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	449					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CCCTGTAGGTGAAAACTTTCT	0.507000													27	79					0	0	0.024334	0	0
CHST10	9486	broad.mit.edu	37	2	101014428	101014428	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:101014428G>C	ENST00000264249.3	-	5	754	c.369C>G	c.(367-369)ttC>ttG	p.F123L	CHST10_ENST00000409701.1_Missense_Mutation_p.F123L|CHST10_ENST00000542617.1_Missense_Mutation_p.F171L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	123					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GAGTCTGGCAGAAAAGAATCT	0.493000													27	99					0	0	0.024334	0	0
PCDH17	27253	broad.mit.edu	37	13	58208417	58208417	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr13:58208417C>T	ENST00000377918.3	+	1	1763	c.1737C>T	c.(1735-1737)aaC>aaT	p.N579N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	579	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGAATGACAACGCGCCAGTGA	0.642000													14	51					0	0	0.016723	0	0
PLCE1	51196	broad.mit.edu	37	10	95791310	95791310	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:95791310G>A	ENST00000260766.3	+	2	1141	c.507G>A	c.(505-507)caG>caA	p.Q169Q	PLCE1_ENST00000371380.2_Silent_p.Q169Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	169					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAGGAAATCAGTCAGTGATCA	0.428000													62	80					0	0	0.014410	0	0
RCAN2	10231	broad.mit.edu	37	6	46190997	46190997	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:46190997T>A	ENST00000371374.1	-	5	804	c.613A>T	c.(613-615)Agt>Tgt	p.S205C	RCAN2_ENST00000306764.7_Missense_Mutation_p.S205C|RCAN2_ENST00000330430.6_Missense_Mutation_p.S159C|RCAN2_ENST00000405162.1_Missense_Mutation_p.S205C	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	159					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACGACGACACTTGGGGTGGAC	0.512000													38	216					0	0	0.027894	0	0
GPX6	257202	broad.mit.edu	37	6	28473519	28473519	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:28473519C>A	ENST00000361902.1	-	4	469	c.420G>T	c.(418-420)gtG>gtT	p.V140V	GPX6_ENST00000474923.1_Intron	NM_182701.1	NP_874360.1	P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	140			V -> M (in dbSNP:rs36055795).		response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TTTCTCCATTCACATCCCCTT	0.453000													12	80					7.03913e-09	7.7831e-09	0.013537	1	0
TAP2	6891	broad.mit.edu	37	6	32797314	32797314	+	Splice_Site	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:32797314C>G	ENST00000374897.2	-	11	1927		c.e11-1		TAP2_ENST00000374899.4_Splice_Site|TAP2_ENST00000452392.2_Splice_Site	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)						antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TCCCCTACATCTGAGGAAATC	0.557000													11	55					0	0	0.016723	0	0
TMEM71	137835	broad.mit.edu	37	8	133723206	133723206	+	Silent	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:133723206A>G	ENST00000523829.1	-	9	958	c.837T>C	c.(835-837)caT>caC	p.H279H	TMEM71_ENST00000377901.4_3'UTR|TMEM71_ENST00000356838.3_3'UTR			Q6P5X7	TMM71_HUMAN	transmembrane protein 71	0						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCATTCCTAAATGGTTGTCAA	0.383000													56	165					0	0	0.014410	0	0
OR4C12	283093	broad.mit.edu	37	11	50003946	50003946	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:50003946A>C	ENST00000335238.4	-	1	125	c.92T>G	c.(91-93)gTt>gGt	p.V31G		NM_001005270.2	NP_001005270.1	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CATGTAAAGAACCAAAAATAC	0.413000													38	84					0	0	0.019004	0	0
MTFR1	9650	broad.mit.edu	37	8	66582207	66582207	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:66582207G>T	ENST00000262146.4	+	2	146	c.20G>T	c.(19-21)cGc>cTc	p.R7L	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.R7L	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	7						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TGGATTAAGCGCCTAATTAGG	0.368000													23	205					8.24728e-16	9.97005e-16	0.024334	1	0
PGM5	5239	broad.mit.edu	37	9	71002394	71002394	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:71002394C>A	ENST00000396396.1	+	4	816	c.587C>A	c.(586-588)cCa>cAa	p.P196Q	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.P196Q	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	196					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATAGTGGACCCAGTGGATATC	0.413000													89	177					8.98033e-41	1.22746e-40	0.014410	1	0
KLHL14	57565	broad.mit.edu	37	18	30254696	30254696	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr18:30254696C>T	ENST00000359358.4	-	9	2249	c.1811G>A	c.(1810-1812)gGa>gAa	p.G604E		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	604						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGCTACATCTCCTTCGAGTTC	0.468000													74	174					0	0	0.014410	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70714434	70714434	+	RNA	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:70714434G>A	ENST00000530196.1	-	0	84					NR_003951.1																						AAGGTGTGAGGCACTGCTGGT	0.512000													10	179					0	0	0.024245	0	0
URM1	81605	broad.mit.edu	37	9	131140339	131140339	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:131140339C>T	ENST00000372847.1	+	2	111	c.101C>T	c.(100-102)aCg>aTg	p.T34M	URM1_ENST00000372850.1_Silent_p.D20D|URM1_ENST00000452446.1_Silent_p.D20D|URM1_ENST00000372853.4_Silent_p.D20D			Q9BTM9	URM1_HUMAN	ubiquitin related modifier 1	0					tRNA thio-modification|tRNA wobble uridine modification		protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	5						TCCTGTTTGACGGTATTAAGA	0.507000													17	148					0	0	0.007413	0	0
RYR2	6262	broad.mit.edu	37	1	237604656	237604656	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:237604656G>C	ENST00000366574.2	+	13	1360	c.1043G>C	c.(1042-1044)gGc>gCc	p.G348A	RYR2_ENST00000542537.1_Missense_Mutation_p.G332A|RYR2_ENST00000360064.6_Missense_Mutation_p.G346A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	348					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGTAGATGGCATGGGAACA	0.398000													28	114					0	0	0.008361	0	0
LCE1A	353131	broad.mit.edu	37	1	152800041	152800041	+	Silent	SNP	A	A	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:152800041A>C	ENST00000335123.2	+	1	93	c.93A>C	c.(91-93)ccA>ccC	p.P31P		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	31	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agtgccccccaaagtgtcccc	0.672000													49	134					0	0	0.013114	0	0
STOML2	30968	broad.mit.edu	37	9	35100719	35100719	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:35100719C>G	ENST00000356493.5	-	9	871	c.809G>C	c.(808-810)gGa>gCa	p.G270A	STOML2_ENST00000452248.2_Missense_Mutation_p.G225A	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	270						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGCTGCATCTCCATTCTGTGA	0.512000													12	207					0	0	0.016723	0	0
ARPP21	10777	broad.mit.edu	37	3	35748546	35748546	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:35748546A>T	ENST00000187397.4	+	10	1223	c.767A>T	c.(766-768)aAc>aTc	p.N256I	ARPP21_ENST00000417925.1_Missense_Mutation_p.N256I|ARPP21_ENST00000337271.5_Missense_Mutation_p.N256I|ARPP21_ENST00000444190.1_Missense_Mutation_p.N256I|ARPP21_ENST00000458225.1_Missense_Mutation_p.N256I	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	256						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAGCGAGATAACTCTAGTATT	0.398000													36	71					0	0	0.019004	0	0
CDH11	1009	broad.mit.edu	37	16	65026867	65026867	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:65026867C>A	ENST00000394156.3	-	5	1047	c.594G>T	c.(592-594)gtG>gtT	p.V198V	CDH11_ENST00000268603.4_Silent_p.V198V|CDH11_ENST00000566827.1_Silent_p.V72V			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	198	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GGATACTGTACACTAACTTGG	0.423000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			23	119					6.36457e-07	6.92466e-07	0.021523	1	0
ENC1	8507	broad.mit.edu	37	5	73931933	73931933	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:73931933C>A	ENST00000302351.4	-	2	1508	c.378G>T	c.(376-378)atG>atT	p.M126I	ENC1_ENST00000537006.1_Missense_Mutation_p.M126I|ENC1_ENST00000510316.1_Missense_Mutation_p.M53I	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	126				INEENAESLLEAGDMLEFQ -> HQLEGKCRNSLLGSLVTC WSFK (in Ref. 1).	nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GAAACTCCAGCATGTCACCAG	0.532000													25	142					1.42536e-11	1.63585e-11	0.024334	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													3	91					0	0	0.009096	0	0
NDUFS4	4724	broad.mit.edu	37	5	52942221	52942221	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:52942221G>A	ENST00000296684.5	+	3	364	c.336G>A	c.(334-336)atG>atA	p.M112I		NM_002495.2	NP_002486.1	O43181	NDUS4_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	112					brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(3)	10		Lung NSC(810;8.27e-05)|Breast(144;0.0848)			NADH(DB00157)	ATCCTTTGATGGGTTGGGCAT	0.353000													13	104					0	0	0.016723	0	0
DNAH5	1767	broad.mit.edu	37	5	13841180	13841180	+	Silent	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:13841180A>G	ENST00000265104.4	-	34	5648	c.5544T>C	c.(5542-5544)aaT>aaC	p.N1848N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1848	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAACTTGGCATTTCTAAGGG	0.388000									Kartagener syndrome				38	150					0	0	0.021022	0	0
DMBT1	1755	broad.mit.edu	37	10	124339305	124339305	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:124339305C>A	ENST00000368909.3	+	10	997	c.891C>A	c.(889-891)gtC>gtA	p.V297V	DMBT1_ENST00000338354.3_Silent_p.V297V|DMBT1_ENST00000330163.4_Silent_p.V297V|DMBT1_ENST00000368956.2_Silent_p.V297V|DMBT1_ENST00000344338.3_Silent_p.V297V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Silent_p.V297V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	297	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GACCCATTGTCCTGGATGATG	0.597000													121	153					2.98534e-63	4.18563e-63	0.014410	1	0
NDST4	64579	broad.mit.edu	37	4	115858571	115858571	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:115858571C>A	ENST00000264363.2	-	5	1988	c.1310G>T	c.(1309-1311)tGg>tTg	p.W437L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	437	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GACCTTCTTCCAAGCTGCATA	0.483000													43	133					8.16277e-20	1.03751e-19	0.027894	1	0
YTHDC2	64848	broad.mit.edu	37	5	112917312	112917312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:112917312G>T	ENST00000161863.4	+	25	3766	c.3553G>T	c.(3553-3555)Gaa>Taa	p.E1185*		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1185							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TATGTCTTCAGAAGAGCTTCC	0.408000													23	56					1.10923e-09	1.25191e-09	0.016522	1	0
INTS10	55174	broad.mit.edu	37	8	19701638	19701638	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:19701638G>C	ENST00000397977.3	+	15	2169	c.1771G>C	c.(1771-1773)Gtg>Ctg	p.V591L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	591					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GCATGTGATTGTGTTGCTTCA	0.418000													28	70					0	0	0.007291	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65370963	65370963	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:65370963C>G	ENST00000284037.5	+	23	4257	c.3868C>G	c.(3868-3870)Cta>Gta	p.L1290V	ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L1249V|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L1249V|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L1238V|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L488V|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L1297V|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L1249V|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L1245V|ERBB2IP_ENST00000503913.1_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1290					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TAGAGAACAACTAATTGATTA	0.488000													60	184					0	0	0.014410	0	0
FETUB	26998	broad.mit.edu	37	3	186358267	186358267	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:186358267C>T	ENST00000265029.3	+	1	119	c.18C>T	c.(16-18)ccC>ccT	p.P6P	FETUB_ENST00000382134.3_Silent_p.P6P|FETUB_ENST00000382136.3_Silent_p.P6P|FETUB_ENST00000539949.1_Intron|FETUB_ENST00000450521.1_Silent_p.P6P|FETUB_ENST00000488561.1_3'UTR	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	6						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		TGCTCCTTCCCCTGGCACTCT	0.597000													65	391					0	0	0.014410	0	0
NSUN3	63899	broad.mit.edu	37	3	93781974	93781974	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:93781974C>T	ENST00000314622.4	+	1	215	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	DHFRL1_ENST00000394221.2_5'UTR|NSUN3_ENST00000485793.1_3'UTR	NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3	2							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						CGGGACAATGCTGACCCAGGT	0.572000													55	186					0	0	0.014410	0	0
STAMBP	10617	broad.mit.edu	37	2	74089382	74089382	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:74089382G>A	ENST00000394070.2	+	10	1774	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	STAMBP_ENST00000339566.3_Missense_Mutation_p.R424Q|STAMBP_ENST00000409707.1_Missense_Mutation_p.R424Q|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000394073.1_Missense_Mutation_p.R424Q	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	424					JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	p.R424Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						ACAGACCTTCGATGAGCGTTT	0.423000													16	96					0	0	0.007413	0	0
CHL1	10752	broad.mit.edu	37	3	404935	404935	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:404935G>C	ENST00000256509.2	+	14	2096	c.1454G>C	c.(1453-1455)aGg>aCg	p.R485T	CHL1_ENST00000397491.2_Missense_Mutation_p.R469T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	469	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGGAGGGCAGGCGGTATCAT	0.428000													20	60					0	0	0.007413	0	0
TRGV3	6976	broad.mit.edu	37	7	38398150	38398150	+	RNA	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:38398150T>A	ENST00000390346.2	-	0	499																											CCCAGAATCATTTTCAATTAG	0.473000													44	175					0	0	0.014410	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121699858	121699858	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:121699858C>T	ENST00000393386.2	+	29	7134	c.6723C>T	c.(6721-6723)caC>caT	p.H2241H	PTPRZ1_ENST00000449182.1_Silent_p.H1374H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2241	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCCTTATGCACCAACTAGAAA	0.428000													52	148					0	0	0.014410	0	0
PZP	5858	broad.mit.edu	37	12	9310409	9310409	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:9310409G>T	ENST00000261336.2	-	27	3351	c.3323C>A	c.(3322-3324)tCc>tAc	p.S1108Y	PZP_ENST00000381997.2_Missense_Mutation_p.S894Y	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AACATAGGCGGAGAGGGTCGC	0.428000													16	57					2.48551e-13	2.90153e-13	0.004990	1	0
SUN3	256979	broad.mit.edu	37	7	48046766	48046766	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:48046766G>T	ENST00000453192.2	-	6	695	c.452C>A	c.(451-453)aCa>aAa	p.T151K	SUN3_ENST00000297325.4_Missense_Mutation_p.T163K|SUN3_ENST00000412142.1_Missense_Mutation_p.T63K|SUN3_ENST00000395572.2_Missense_Mutation_p.T163K			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	163						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGGACCTCTGTGTGGTCCGG	0.552000													26	75					5.45727e-16	6.62668e-16	0.008361	1	0
RLF	6018	broad.mit.edu	37	1	40702667	40702667	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:40702667A>G	ENST00000372771.4	+	8	2320	c.2293A>G	c.(2293-2295)Aag>Gag	p.K765E		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	765					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			CCATAAACAAAAGCATGACGA	0.393000													46	194					0	0	0.014410	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351941	118351941	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:118351941C>T	ENST00000528052.1	+	4	289	c.218C>T	c.(217-219)tCt>tTt	p.S73F	PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.S73F|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.S73F|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.S73F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	73					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CTCCTCCTCTCTGATCCATCA	0.493000													76	107					0	0	0.014410	0	0
NRXN3	9369	broad.mit.edu	37	14	80328091	80328091	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:80328091C>T	ENST00000281127.7	+	6	1962	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	NRXN3_ENST00000428277.2_Silent_p.V388V|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000554719.1_Silent_p.V990V|NRXN3_ENST00000335750.5_Silent_p.V990V|NRXN3_ENST00000557594.1_Silent_p.V566V	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	566					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GGATGGTCGTCGGCATTGTGG	0.607000													20	51					0	0	0.008361	0	0
IGSF3	3321	broad.mit.edu	37	1	117208931	117208931	+	Silent	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:117208931C>G	ENST00000369486.3	-	2	783	c.18G>C	c.(16-18)ccG>ccC	p.P6P	IGSF3_ENST00000369483.1_Silent_p.P6P|IGSF3_ENST00000318837.6_Silent_p.P6P	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	6						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCTCAGCACCGGGAAAAAGC	0.493000													18	107					0	0	0.008871	0	0
RAB12	201475	broad.mit.edu	37	18	8609872	8609872	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr18:8609872C>A	ENST00000329286.6	+	1	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	49					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.G49G(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711000													4	17					0.00909568	0.00955222	0.009096	1	0
CALD1	800	broad.mit.edu	37	7	134635184	134635184	+	Silent	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:134635184A>G	ENST00000361388.2	+	9	1633	c.1167A>G	c.(1165-1167)aaA>aaG	p.K389K	CALD1_ENST00000361901.2_Silent_p.K363K|CALD1_ENST00000393118.2_Silent_p.K383K|CALD1_ENST00000422748.1_Silent_p.K389K|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Silent_p.K357K|CALD1_ENST00000417172.1_Silent_p.K363K|CALD1_ENST00000543443.1_Silent_p.K368K|CALD1_ENST00000361675.2_Silent_p.K618K|CALD1_ENST00000495522.1_Silent_p.K383K	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	618					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CTGCTGAGAAACGCCAGAAGA	0.433000													36	68					0	0	0.019004	0	0
NOSTRIN	115677	broad.mit.edu	37	2	169699618	169699618	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:169699618C>T	ENST00000444448.2	+	10	1097	c.621C>T	c.(619-621)aaC>aaT	p.N207N	NOSTRIN_ENST00000397206.2_Silent_p.N129N|NOSTRIN_ENST00000445023.2_Silent_p.N129N|NOSTRIN_ENST00000397209.2_Silent_p.N179N|NOSTRIN_ENST00000317647.7_Silent_p.N207N|NOSTRIN_ENST00000458381.2_Silent_p.N207N|NOSTRIN_ENST00000421711.2_Silent_p.N179N			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	186					endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CACTAGAGAACTGCTACCAGG	0.383000													11	54					0	0	0.013537	0	0
ZFPM1	161882	broad.mit.edu	37	16	88552448	88552448	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:88552448G>A	ENST00000319555.3	+	2	464	c.142G>A	c.(142-144)Gca>Aca	p.A48T	ZFPM1_ENST00000569086.1_3'UTR	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	48					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCCTCCCAGCGCAGGTGAGTC	0.642000													7	33					0	0	0.001984	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209169573	209169573	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:209169573C>G	ENST00000264380.4	+	12	1630	c.1472C>G	c.(1471-1473)tCt>tGt	p.S491C	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S405C|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S394C|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S491C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	491					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CTAAAAGATTCTGCCAGTCCT	0.468000													12	116					0	0	0.016723	0	0
CCHCR1	54535	broad.mit.edu	37	6	31110480	31110480	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:31110480G>A	ENST00000396268.3	-	18	2693	c.2505C>T	c.(2503-2505)gtC>gtT	p.V835V	CCHCR1_ENST00000396263.2_Silent_p.V693V|CCHCR1_ENST00000376266.5_Silent_p.V746V|CCHCR1_ENST00000451521.2_Silent_p.V799V	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	746					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CATCGAGCAGGACAGAGAGGG	0.537000													42	109					0	0	0.009718	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777172	18777172	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:18777172C>T	ENST00000380548.4	+	19	3284	c.2945C>T	c.(2944-2946)gCg>gTg	p.A982V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	982						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GAGGTGCTTGCGGGGAGGAAG	0.672000													10	184					0	0	0.006214	0	0
EPB41L2	2037	broad.mit.edu	37	6	131247798	131247798	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:131247798G>C	ENST00000337057.3	-	4	938	c.757C>G	c.(757-759)Ctc>Gtc	p.L253V	EPB41L2_ENST00000525271.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000530481.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000368128.2_Missense_Mutation_p.L253V|EPB41L2_ENST00000529208.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000392427.3_Missense_Mutation_p.L253V|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000528282.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000445890.2_Missense_Mutation_p.L253V|EPB41L2_ENST00000527659.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000525193.1_Missense_Mutation_p.L253V|EPB41L2_ENST00000527411.1_Missense_Mutation_p.L253V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	253	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCTCCAAGAGATTGAGGTGT	0.323000													74	128					0	0	0.014410	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453289	25453289	+	RNA	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:25453289C>G	ENST00000424208.1	+	0	2384				SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA	NR_003305.1																						AAATCATGCTCAATAGGATTA	0.527000													101	237					0	0	0.014410	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281382	49281382	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr13:49281382C>T	ENST00000282018.3	+	1	432	c.429C>T	c.(427-429)ccC>ccT	p.P143P		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	143					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGGTTCACCCCTTTCGGCTTC	0.478000													60	160					0	0	0.014410	0	0
GPR143	4935	broad.mit.edu	37	X	9728793	9728793	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:9728793C>T	ENST00000467482.1	-	2	470	c.324G>A	c.(322-324)acG>acA	p.T108T	GPR143_ENST00000380929.2_Silent_p.T128T			P51810	GP143_HUMAN	G protein-coupled receptor 143	108					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GCCAAATTTCCGTGTGGTTCA	0.517000													5	4					0	0	0.021553	0	0
TLN1	7094	broad.mit.edu	37	9	35717216	35717216	+	Silent	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:35717216A>T	ENST00000314888.9	-	19	2738	c.2385T>A	c.(2383-2385)gcT>gcA	p.A795A	TLN1_ENST00000540444.1_Silent_p.A795A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	795					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATAACGGCCAGCAGGCCCAG	0.567000													26	44					0	0	0.006320	0	0
GJA8	2703	broad.mit.edu	37	1	147380566	147380566	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:147380566G>A	ENST00000240986.4	+	2	537	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	GJA8_ENST00000369235.1_Missense_Mutation_p.E162K	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	162					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GACCCTCTTTGAAGTGGGCTT	0.587000													51	180					0	0	0.014410	0	0
CRYZ	1429	broad.mit.edu	37	1	75172657	75172657	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:75172657T>A	ENST00000417775.1	-	9	1258	c.754A>T	c.(754-756)Att>Ttt	p.I252F	CRYZ_ENST00000370872.3_Missense_Mutation_p.I115F|CRYZ_ENST00000492102.1_5'UTR|CRYZ_ENST00000370871.3_Missense_Mutation_p.I218F|CRYZ_ENST00000340866.5_Missense_Mutation_p.I252F	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	252					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	TTTATTTCAATAGTACCTCTG	0.353000													55	264					0	0	0.014410	0	0
TMEM98	26022	broad.mit.edu	37	17	31267870	31267870	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:31267870G>A	ENST00000579849.1	+	8	971	c.540G>A	c.(538-540)acG>acA	p.T180T	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Silent_p.T180T	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	180						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			GCCATCTGACGGGAGGCCTGG	0.547000													32	144					0	0	0.010818	0	0
MYO15A	51168	broad.mit.edu	37	17	18046140	18046140	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:18046140C>G	ENST00000205890.5	+	25	6234	c.5896C>G	c.(5896-5898)Cga>Gga	p.R1966G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1966	IQ 3.|Neck or regulatory domain.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTGAGCCGCCGACGCTATCT	0.582000													4	33					0	0	0.009096	0	0
SNORD115-43	100033817	broad.mit.edu	37	15	25494401	25494401	+	RNA	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:25494401T>A	ENST00000365503.1	+	0	57					NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1																						TTAAAAATCATGCTCAATAGG	0.498000													83	273					0	0	0.014410	0	0
L2HGDH	79944	broad.mit.edu	37	14	50736024	50736024	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:50736024C>G	ENST00000267436.4	-	7	1160	c.763G>C	c.(763-765)Gtt>Ctt	p.V255L	L2HGDH_ENST00000261699.4_Missense_Mutation_p.V255L|L2HGDH_ENST00000421284.3_Missense_Mutation_p.V255L			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	255					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					CATGTCACAACATACTGACAT	0.418000													61	246					0	0	0.014410	0	0
NRXN1	9378	broad.mit.edu	37	2	50847323	50847323	+	Splice_Site	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:50847323T>A	ENST00000404971.1	-	9	2618		c.e9-2		NRXN1_ENST00000402717.3_Splice_Site|NRXN1_ENST00000401669.2_Splice_Site|NRXN1_ENST00000331040.5_Splice_Site|NRXN1_ENST00000406859.3_Splice_Site|NRXN1_ENST00000406316.2_Splice_Site|NRXN1_ENST00000405472.3_Splice_Site	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TATTGTCACCTAGATAACAAA	0.418000													3	42					0	0	0.004672	0	0
ADCY7	113	broad.mit.edu	37	16	50332901	50332901	+	Silent	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:50332901G>C	ENST00000394697.2	+	8	1375	c.1035G>C	c.(1033-1035)cgG>cgC	p.R345R	ADCY7_ENST00000566433.2_Silent_p.R345R|ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000538642.1_Silent_p.R345R|ADCY7_ENST00000254235.3_Silent_p.R345R|ADCY7_ENST00000537579.1_Silent_p.R345R			P51828	ADCY7_HUMAN	adenylate cyclase 7	345	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCCACGCCCGGAACTGCGTGA	0.657000													19	81					0	0	0.010504	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													3	33					0	0	0.004672	0	0
VILL	50853	broad.mit.edu	37	3	38035866	38035866	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:38035866C>A	ENST00000283713.6	+	4	516	c.250C>A	c.(250-252)Cag>Aag	p.Q84K	VILL_ENST00000383759.2_Missense_Mutation_p.Q84K|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	84					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCAGCGCCTACAGGACGAGCT	0.701000													14	24					1.05317e-09	1.19359e-09	0.020292	1	0
OR5J2	282775	broad.mit.edu	37	11	55944902	55944902	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:55944902A>C	ENST00000312298.1	+	1	809	c.809A>C	c.(808-810)cAa>cCa	p.Q270P		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTTGTGGAACAAGAGAAAGTG	0.438000													28	138					0	0	0.006320	0	0
HELZ	9931	broad.mit.edu	37	17	65174991	65174991	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:65174991C>A	ENST00000358691.5	-	13	1380	c.1214G>T	c.(1213-1215)cGt>cTt	p.R405L	HELZ_ENST00000580168.1_Missense_Mutation_p.R405L	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGAATCCCAACGTTTAGCTGT	0.348000													17	141					1.33834e-09	1.50425e-09	0.007413	1	0
SLC9B2	133308	broad.mit.edu	37	4	103988651	103988651	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:103988651C>A	ENST00000394785.3	-	2	688	c.57G>T	c.(55-57)atG>atT	p.M19I	SLC9B2_ENST00000339611.4_Missense_Mutation_p.M19I|SLC9B2_ENST00000503230.1_Missense_Mutation_p.M19I|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000362026.3_Missense_Mutation_p.M19I|SLC9B2_ENST00000503103.1_Missense_Mutation_p.M19I	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	19					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										GCGTGTAATTCATTCCTGTGG	0.363000													51	144					7.71302e-15	9.12148e-15	0.014410	1	0
DPY19L2P1	554236	broad.mit.edu	37	7	35129944	35129944	+	RNA	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:35129944A>T	ENST00000436258.1	-	0	3425																											AGTTCTCACAACACACCATGC	0.323000													47	215					0	0	0.013114	0	0
ZNF595	152687	broad.mit.edu	37	4	59413	59413	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:59413G>T	ENST00000509152.2	+	2	279	c.94G>T	c.(94-96)Gtg>Ttg	p.V32L	ZNF595_ENST00000526473.2_Missense_Mutation_p.V32L|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GTATAGAGATGTGATGTTGGA	0.433000													43	546					2.24893e-16	2.75545e-16	0.009718	1	0
MOGAT3	346606	broad.mit.edu	37	7	100839228	100839228	+	Nonstop_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:100839228T>A	ENST00000223114.4	-	7	1191	c.1025A>T	c.(1024-1026)tAg>tTg	p.*342L	MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000379423.3_Silent_p.L274L	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CGGCCAGGCCTAGATGAAGGT	0.602000													27	123					0	0	0.009535	0	0
LRAT	9227	broad.mit.edu	37	4	155670238	155670238	+	Missense_Mutation	SNP	A	A	G	rs140421566	by1000genomes	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:155670238A>G	ENST00000336356.3	+	3	896	c.643A>G	c.(643-645)Act>Gct	p.T215A	LRAT_ENST00000507827.1_Missense_Mutation_p.T215A	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	215					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GGTATCATACACTACCCTTCC	0.403000													63	276					0	0	0.014410	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182340	57182340	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:57182340G>A	ENST00000504228.1	+	6	2777	c.2672G>A	c.(2671-2673)gGa>gAa	p.G891E	KIAA1211_ENST00000264229.6_Missense_Mutation_p.G891E|KIAA1211_ENST00000541073.1_Missense_Mutation_p.G884E			Q6ZU35	K1211_HUMAN	KIAA1211	891										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCGCTCGTGGAGAGAAAGAG	0.627000													7	35					0	0	0.004482	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256976	140256976	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140256976C>T	ENST00000398631.2	+	1	1919	c.1919C>T	c.(1918-1920)gCg>gTg	p.A640V	PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATGAGGCGGACGCTCCG	0.687000													19	54					0	0	0.012319	0	0
TMEM135	65084	broad.mit.edu	37	11	86802426	86802426	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:86802426A>T	ENST00000340353.7	+	4	587	c.385A>T	c.(385-387)Atg>Ttg	p.M129L	TMEM135_ENST00000535167.1_Intron|TMEM135_ENST00000305494.5_Missense_Mutation_p.M129L|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000355734.4_Missense_Mutation_p.M129L	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	129						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CACAATTTATATGGCCAACTT	0.279000													34	55					0	0	0.007835	0	0
THSD1	55901	broad.mit.edu	37	13	52971420	52971420	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr13:52971420C>T	ENST00000349258.4	-	3	1512	c.968G>A	c.(967-969)aGc>aAc	p.S323N	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000258613.4_Missense_Mutation_p.S323N	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	323						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ATGGCTTCTGCTTGAAATGCC	0.378000													39	63					0	0	0.025465	0	0
NUP62	23636	broad.mit.edu	37	19	50412642	50412642	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:50412642C>T	ENST00000596217.1	-	2	2310	c.423G>A	c.(421-423)gtG>gtA	p.V141V	IL4I1_ENST00000595948.1_Intron|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000422090.2_Silent_p.V141V|NUP62_ENST00000597723.1_Silent_p.V141V|NUP62_ENST00000352066.3_Silent_p.V141V|NUP62_ENST00000597029.1_Silent_p.V141V|NUP62_ENST00000413454.1_Silent_p.V141V			P37198	NUP62_HUMAN	nucleoporin 62kDa	141	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGGGGCCAAACACAAAGCCGG	0.602000													11	108					0	0	0.008291	0	0
KMT2C	58508	broad.mit.edu	37	7	151880230	151880230	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:151880230T>A	ENST00000355193.2	-	35	5312	c.5094A>T	c.(5092-5094)agA>agT	p.R1698S	KMT2C_ENST00000262189.6_Missense_Mutation_p.R1698S					lysine (K)-specific methyltransferase 2C																		CTCTGTTATCTCTGGCTTTTT	0.323000													145	328					0	0	0.014410	0	0
MROH7	374977	broad.mit.edu	37	1	55144987	55144987	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:55144987G>T	ENST00000414150.2	+	12	2379	c.2101G>T	c.(2101-2103)Gcc>Tcc	p.A701S	MROH7_ENST00000409996.1_Missense_Mutation_p.A269S|MROH7_ENST00000545244.1_Missense_Mutation_p.A269S|MROH7_ENST00000339553.5_Missense_Mutation_p.A701S|MROH7_ENST00000454855.2_Missense_Mutation_p.A219S|MROH7_ENST00000395690.2_Missense_Mutation_p.A701S|MROH7_ENST00000421030.2_Missense_Mutation_p.A701S					maestro heat-like repeat family member 7																		GCTGCTGGCCGCCCTGGAAGG	0.592000													39	197					6.2361e-21	8.07724e-21	0.007835	1	0
INTS12	57117	broad.mit.edu	37	4	106604207	106604207	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:106604207C>T	ENST00000451321.2	-	7	1551	c.1072G>A	c.(1072-1074)Gta>Ata	p.V358I	INTS12_ENST00000394735.1_Missense_Mutation_p.V358I|INTS12_ENST00000340139.5_Missense_Mutation_p.V358I	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	358	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TTTAAAGGTACAGTGGGCGTA	0.463000													78	240					0	0	0.014410	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733460	56733460	+	Silent	SNP	C	C	T	rs142326109	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:56733460C>T	ENST00000587340.1	-	7	1670	c.975G>A	c.(973-975)ccG>ccA	p.P325P	ZSCAN5A_ENST00000592355.1_Silent_p.P324P|ZSCAN5A_ENST00000587492.1_Silent_p.P179P|ZSCAN5A_ENST00000254165.3_Silent_p.P208P|ZSCAN5A_ENST00000391713.1_Silent_p.P325P			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	325					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CAGCTTGTCCCGGGGATTCTC	0.557000													32	103					0	0	0.007835	0	0
PER1	5187	broad.mit.edu	37	17	8044393	8044393	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:8044393G>A	ENST00000317276.4	-	23	4103	c.3866C>T	c.(3865-3867)aCc>aTc	p.T1289I	PER1_ENST00000581082.1_Missense_Mutation_p.T1266I	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1289	CRY 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						AGTCTAGCTGGTGCAGTTTCC	0.542000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					7	297					0	0	0.001984	0	0
TRAC	28755	broad.mit.edu	37	14	23020971	23020971	+	RNA	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:23020971A>T	ENST00000478163.3	+	0	848																											ATAAAGAAAGACATAGTATTC	0.453000													19	82					0	0	0.008871	0	0
ZNF75D	7626	broad.mit.edu	37	X	134428026	134428026	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:134428026G>T	ENST00000370766.3	-	3	2750	c.41C>A	c.(40-42)cCc>cAc	p.P14H	ZNF75D_ENST00000370764.1_Missense_Mutation_p.P14H|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	14					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CCCCATCTGGGGGCTTGAGCA	0.483000													114	143					8.09351e-62	1.12894e-61	0.014410	1	0
AURKB	9212	broad.mit.edu	37	17	8111074	8111074	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:8111074A>G	ENST00000316199.6	-	3	210	c.133T>C	c.(133-135)Tcc>Ccc	p.S45P	AURKB_ENST00000534871.1_Missense_Mutation_p.S4P|AURKB_ENST00000535053.1_Missense_Mutation_p.S45P|AURKB_ENST00000578549.1_Missense_Mutation_p.S45P|AURKB_ENST00000585124.1_Missense_Mutation_p.S45P			Q96GD4	AURKB_HUMAN	aurora kinase B	45					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						TGGACATTGGAGCGGCTCATG	0.612000													16	48					0	0	0.004990	0	0
CCDC180	100499483	broad.mit.edu	37	9	100116995	100116995	+	Splice_Site	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:100116995G>C	ENST00000375202.2	+	37	4631	c.3279_splice	c.e37+1	p.Q1093_splice	CCDC180_ENST00000529487.1_Splice_Site_p.Q1093_splice|CCDC180_ENST00000357054.1_Splice_Site_p.Q1064_splice|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA					coiled-coil domain containing 180																		ACCTGGACCAGGTAGGGCCCC	0.567000													67	89					0	0	0.014410	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471453	146471453	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:146471453C>A	ENST00000361727.3	+	2	704	c.188C>A	c.(187-189)gCc>gAc	p.A63D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	63	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCCGGCTATGCCAAGATAAAC	0.368000										HNSCC(39;0.1)			23	43					1.64293e-13	1.93454e-13	0.018920	1	0
APBA2	321	broad.mit.edu	37	15	29386517	29386517	+	Splice_Site	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:29386517G>T	ENST00000558402.1	+	9	1850		c.e9+1		APBA2_ENST00000411764.1_Intron|APBA2_ENST00000561069.1_Splice_Site|APBA2_ENST00000558330.1_Intron|APBA2_ENST00000558259.1_Splice_Site			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2						nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAAAAAAGCGGTGTGTAGGGC	0.517000													42	114					1.86633e-21	2.44059e-21	0.014410	1	0
MAP3K4	4216	broad.mit.edu	37	6	161519401	161519401	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:161519401A>T	ENST00000392142.4	+	17	3764	c.3616A>T	c.(3616-3618)Agc>Tgc	p.S1206C	MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S1202C|MAP3K4_ENST00000348824.7_Intron	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1206					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CAGTCGGCCCAGCCCCTCTGG	0.627000													21	128					0	0	0.008740	0	0
FAM135B	51059	broad.mit.edu	37	8	139165358	139165358	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:139165358A>T	ENST00000395297.1	-	13	1530	c.1360T>A	c.(1360-1362)Tta>Ata	p.L454I		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	454										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTAAAAGATAAATTGCTATTT	0.373000										HNSCC(54;0.14)			31	127					0	0	0.008361	0	0
EPHA10	284656	broad.mit.edu	37	1	38227191	38227191	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:38227191C>T	ENST00000373048.4	-	3	735	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	EPHA10_ENST00000427468.2_Missense_Mutation_p.G246R|EPHA10_ENST00000319637.6_Missense_Mutation_p.G246R	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	246						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)				CCAGGCTCCCCTTCCGAGTGC	0.731000													25	27					0	0	0.021523	0	0
STK33	65975	broad.mit.edu	37	11	8435138	8435138	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:8435138C>A	ENST00000447869.1	-	11	2166	c.1248G>T	c.(1246-1248)aaG>aaT	p.K416N	STK33_ENST00000315204.1_Missense_Mutation_p.K416N|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000534493.1_Missense_Mutation_p.K375N|STK33_ENST00000396673.1_Intron|STK33_ENST00000358872.3_Missense_Mutation_p.K229N|STK33_ENST00000396672.1_Missense_Mutation_p.K416N			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	416						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		ACGGCTTATTCTTCTCTTCTG	0.403000													104	220					7.34945e-47	1.00962e-46	0.014410	1	0
MPO	4353	broad.mit.edu	37	17	56348209	56348209	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:56348209G>C	ENST00000340482.3	-	11	2318	c.2142C>G	c.(2140-2142)aaC>aaG	p.N714K	MPO_ENST00000225275.3_Missense_Mutation_p.N682K			P05164	PERM_HUMAN	myeloperoxidase	682					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	ACACACCCTCGTTCTCCCACC	0.577000													7	109					0	0	0.003080	0	0
CCDC74B	91409	broad.mit.edu	37	2	130900033	130900033	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:130900033C>A	ENST00000392984.3	-	2	1266	c.523G>T	c.(523-525)Gct>Tct	p.A175S	CCDC74B_ENST00000310463.6_Intron|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000409128.1_Intron			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	157										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GTCCTGTCAGCGTCCCCAGCA	0.637000													3	21					0.00909568	0.00955222	0.009096	1	0
LEKR1	389170	broad.mit.edu	37	3	156710895	156710895	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:156710895C>T	ENST00000470811.1	+	10	1361	c.26C>T	c.(25-27)tCt>tTt	p.S9F	LEKR1_ENST00000356539.4_Missense_Mutation_p.S313F			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	70										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AAAGAAGACTCTTTAATGACT	0.318000													22	87					0	0	0.018920	0	0
SORCS3	22986	broad.mit.edu	37	10	106924096	106924096	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:106924096G>A	ENST00000369701.3	+	12	1995	c.1768G>A	c.(1768-1770)Ggt>Agt	p.G590S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	590						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TACTGATATTGGTGTGTTCAT	0.448000													32	45					0	0	0.025465	0	0
AQP9	366	broad.mit.edu	37	15	58471405	58471405	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:58471405G>C	ENST00000219919.4	+	5	944	c.574G>C	c.(574-576)Gag>Cag	p.E192Q	AQP9_ENST00000536493.1_Missense_Mutation_p.E192Q|ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.E127Q	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	192					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		CAGAGGCCTAGAGCCCATTGC	0.552000													14	65					0	0	0.016723	0	0
MED12L	116931	broad.mit.edu	37	3	151094808	151094808	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:151094808C>G	ENST00000474524.1	+	28	4091	c.4053C>G	c.(4051-4053)aaC>aaG	p.N1351K	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.N1211K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1351					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAATGAACAACTTACTGGACA	0.398000													22	82					0	0	0.024334	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906404	164906404	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:164906404C>T	ENST00000475390.1	-	2	2658	c.2215G>A	c.(2215-2217)Gtg>Atg	p.V739M	SLITRK3_ENST00000241274.3_Missense_Mutation_p.V739M			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	739						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TACTCATACACATGACCCACG	0.582000										HNSCC(40;0.11)			43	112					0	0	0.011902	0	0
CDC5L	988	broad.mit.edu	37	6	44413419	44413419	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:44413419G>T	ENST00000371477.3	+	15	2418	c.2119G>T	c.(2119-2121)Gcc>Tcc	p.A707S		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	707	Interaction with PLRG1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACGACAGAAGCCAAGAGGGC	0.443000													6	53					3.59834e-05	3.85334e-05	0.021553	1	0
CHN1	1123	broad.mit.edu	37	2	175666459	175666459	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:175666459C>G	ENST00000409900.3	-	12	1497	c.1184G>C	c.(1183-1185)cGg>cCg	p.R395P	CHN1_ENST00000409156.3_Missense_Mutation_p.R369P|CHN1_ENST00000295497.7_Missense_Mutation_p.R270P|CHN1_ENST00000409597.1_Missense_Mutation_p.R211P|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	395	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.R395Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			CATGAGGTACCGGAGGGTTTC	0.413000			T	TAF15	extraskeletal myxoid chondrosarcoma								44	143					0	0	0.011902	0	0
NYAP1	222950	broad.mit.edu	37	7	100084710	100084710	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:100084710G>A	ENST00000423930.1	+	3	494	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	NYAP1_ENST00000300179.2_Missense_Mutation_p.R112Q|NYAP1_ENST00000454988.1_Missense_Mutation_p.R55Q			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	112																	AGCAGCACCCGAAGACCCCCT	0.701000													22	45					0	0	0.027356	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668318	176668318	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:176668318G>A	ENST00000367662.3	+	8	3993	c.2829G>A	c.(2827-2829)acG>acA	p.T943T		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	943					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAACATGACGGTCCCCTGCC	0.602000													50	152					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179447313	179447313	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:179447313G>C	ENST00000589042.1	-	314	66094	c.65870C>G	c.(65869-65871)cCg>cGg	p.P21957R	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P12892R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P20316R|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13017R|TTN_ENST00000342992.6_Missense_Mutation_p.P19389R|TTN_ENST00000342175.6_Missense_Mutation_p.P13084R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20316	Fibronectin type-III 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAGGACCCGGTTTATCTGA	0.438000													6	47					0	0	0.001984	0	0
REG3G	130120	broad.mit.edu	37	2	79254986	79254986	+	Silent	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:79254986T>C	ENST00000272324.5	+	5	571	c.387T>C	c.(385-387)aaT>aaC	p.N129N	REG3G_ENST00000409471.1_Silent_p.N83N|REG3G_ENST00000393897.2_Silent_p.N129N	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	129	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGTGATGAATTACTTTGCAT	0.507000													34	169					0	0	0.012213	0	0
GPR114	221188	broad.mit.edu	37	16	57597828	57597828	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:57597828C>T	ENST00000340339.4	+	5	889	c.366C>T	c.(364-366)tgC>tgT	p.C122C	GPR114_ENST00000349457.3_Silent_p.C122C|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	122					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GGGACGCCTGCAAGACCCGCC	0.637000													41	106					0	0	0.011902	0	0
OR52K2	119774	broad.mit.edu	37	11	4471232	4471232	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:4471232C>G	ENST00000325719.4	+	1	708	c.663C>G	c.(661-663)atC>atG	p.I221M		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTCTTATATCTTTATTCTTC	0.483000													114	189					0	0	0.014410	0	0
SHPRH	257218	broad.mit.edu	37	6	146267451	146267451	+	Silent	SNP	C	C	T	rs140562619	by1000genomes	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:146267451C>T	ENST00000367503.3	-	7	1637	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	SHPRH_ENST00000275233.7_Silent_p.P413P|SHPRH_ENST00000438092.2_Silent_p.P413P|SHPRH_ENST00000367505.2_Silent_p.P413P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	413					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAATGTGACGGAATAAAAT	0.323000													17	49					0	0	0.028581	0	0
ZNF483	158399	broad.mit.edu	37	9	114289921	114289921	+	Silent	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:114289921A>G	ENST00000309235.5	+	2	404	c.246A>G	c.(244-246)agA>agG	p.R82R	ZNF483_ENST00000358151.4_Silent_p.R82R|ZNF483_ENST00000355824.3_Silent_p.R82R|ZNF483_ENST00000374374.3_Silent_p.R82R	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	82	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGTGGCTGAGACCAGACATTC	0.468000													63	76					0	0	0.014410	0	0
BRCA1	672	broad.mit.edu	37	17	41246660	41246660	+	Silent	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:41246660T>C	ENST00000357654.3	-	10	1006	c.888A>G	c.(886-888)agA>agG	p.R296R	BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Silent_p.R296R|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000471181.2_Silent_p.R296R|BRCA1_ENST00000354071.3_Silent_p.R296R|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Silent_p.R249R	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	296					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTACATTCATTCTGTCTTTAG	0.408000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			52	145					0	0	0.014410	0	0
ADAD1	132612	broad.mit.edu	37	4	123336765	123336765	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:123336765C>A	ENST00000296513.2	+	11	1666	c.1481C>A	c.(1480-1482)aCt>aAt	p.T494N	ADAD1_ENST00000388725.2_Missense_Mutation_p.T476N|ADAD1_ENST00000388724.2_Missense_Mutation_p.T483N	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	494	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGGAAGATCACTGAAAGGTTA	0.323000													52	196					3.94638e-17	4.90144e-17	0.014410	1	0
SSTR1	6751	broad.mit.edu	37	14	38678698	38678698	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:38678698C>A	ENST00000267377.2	+	3	721	c.104C>A	c.(103-105)gCg>gAg	p.A35E		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	35					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCCGGCGCTGCGGACGGCATG	0.697000													12	30					5.50884e-06	5.94605e-06	0.013537	1	0
HTR1B	3351	broad.mit.edu	37	6	78172872	78172872	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:78172872C>A	ENST00000369947.2	-	1	618	c.249G>T	c.(247-249)ccG>ccT	p.P83P		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	83					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGTAGTTAGCCGGGGTGTGCA	0.582000													48	198					1.23713e-20	1.59478e-20	0.014410	1	0
WBSCR17	64409	broad.mit.edu	37	7	71177039	71177039	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:71177039C>A	ENST00000333538.5	+	11	2339	c.1705C>A	c.(1705-1707)Ctg>Atg	p.L569M	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	569	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGACGCTGCCTGGAGGTGGA	0.577000													55	193					1.80625e-27	2.4202e-27	0.014410	1	0
LRRC7	57554	broad.mit.edu	37	1	70555457	70555457	+	Silent	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:70555457T>C	ENST00000310961.5	+	25	4678	c.4260T>C	c.(4258-4260)agT>agC	p.S1420S	LRRC7_ENST00000415775.2_Silent_p.S746S|LRRC7_ENST00000035383.5_Silent_p.S1462S			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1462						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTAGTATCAGTGGTGGAATTA	0.299000													26	139					0	0	0.009535	0	0
AJAP1	55966	broad.mit.edu	37	1	4715487	4715487	+	Translation_Start_Site	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:4715487T>C	ENST00000378191.4	+	1	383	c.2T>C	c.(1-3)aTg>aCg	p.M1T	AJAP1_ENST00000378190.3_Start_Codon_SNP_p.M1T	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	1					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		AACGTGACCATGTGGATTCAA	0.731000													20	69					0	0	0.010504	0	0
CCL16	6360	broad.mit.edu	37	17	34308415	34308415	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:34308415G>A	ENST00000293275.3	-	1	117	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	14					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TAATGATAAGGATGAGGACAA	0.557000													8	31					0	0	0.006214	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890973	32890973	+	RNA	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:32890973G>T	ENST00000330048.5	-	0	2993					NR_003083.2																						ACTCCCAAAAGGCCTGCCAGA	0.627000													35	51					2.04263e-09	2.2864e-09	0.019004	1	0
TRIM22	10346	broad.mit.edu	37	11	5730848	5730848	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:5730848C>T	ENST00000379965.3	+	8	1744	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	489	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		ACTGCCTAGTCCCCATGACTG	0.483000													51	131					0	0	0.014410	0	0
SLC2A13	114134	broad.mit.edu	37	12	40258621	40258621	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:40258621C>G	ENST00000280871.4	-	6	1312	c.1262G>C	c.(1261-1263)cGc>cCc	p.R421P		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	421						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				AAAAGTGATGCGTGGGGAAAC	0.408000										HNSCC(50;0.14)			28	148					0	0	0.008361	0	0
BLMH	642	broad.mit.edu	37	17	28601109	28601109	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:28601109A>T	ENST00000261714.6	-	7	926	c.752T>A	c.(751-753)tTg>tAg	p.L251*	BLMH_ENST00000582669.1_5'UTR|BLMH_ENST00000394819.3_Nonsense_Mutation_p.L164*	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	251					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GTAAAACTCCAAGGGTGTTAT	0.428000													39	126					0	0	0.019004	0	0
ATP11B	23200	broad.mit.edu	37	3	182602582	182602582	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:182602582G>C	ENST00000323116.5	+	22	2811	c.2551G>C	c.(2551-2553)Gac>Cac	p.D851H		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	851					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AAGAAACAGTGACTATGCAAT	0.318000													27	85					0	0	0.024334	0	0
KLF7	8609	broad.mit.edu	37	2	207953303	207953303	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:207953303C>T	ENST00000309446.6	-	3	1112	c.736G>A	c.(736-738)Gag>Aag	p.E246K	KLF7_ENST00000412414.2_Missense_Mutation_p.E218K|KLF7_ENST00000423015.1_Silent_p.V178V|KLF7_ENST00000467833.1_5'UTR|KLF7_ENST00000458272.1_Missense_Mutation_p.E56K|KLF7_ENST00000421199.1_Missense_Mutation_p.E213K	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	246					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		TAAGGCTTCTCACCTGCAAGA	0.547000													20	78					0	0	0.010504	0	0
FBXW8	26259	broad.mit.edu	37	12	117465849	117465849	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:117465849C>T	ENST00000455858.2	+	11	1544	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	FBXW8_ENST00000309909.5_Missense_Mutation_p.R557C	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	557							protein binding	p.R557C(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GGGGCTGATCCGCGCCTATGA	0.622000													3	58					0	0	0.004672	0	0
FRG1	2483	broad.mit.edu	37	4	190876258	190876258	+	Silent	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:190876258T>C	ENST00000226798.4	+	5	606	c.384T>C	c.(382-384)cgT>cgC	p.R128R	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	128					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TTGTTGGGCGTTCAGATGCAA	0.353000													4	217					0	0	0.006214	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214169	140214169	+	Silent	SNP	G	G	T	rs139714335		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:140214169G>T	ENST00000525929.1	+	1	201	c.201G>T	c.(199-201)gtG>gtT	p.V67V	PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.V67V|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGCGGTGTGCAAATTCC	0.632000													50	278					3.19069e-20	4.09371e-20	0.014410	1	0
CIT	11113	broad.mit.edu	37	12	120195319	120195319	+	Silent	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:120195319G>C	ENST00000392521.2	-	22	2617	c.2562C>G	c.(2560-2562)ctC>ctG	p.L854L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.L812L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	812					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			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)		TCTGTTGCCTGAGTTCAGAAA	0.527000													36	192					0	0	0.019004	0	0
LRRC4B	94030	broad.mit.edu	37	19	51020919	51020919	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:51020919C>A	ENST00000599957.1	-	3	2248	c.2051G>T	c.(2050-2052)gGg>gTg	p.G684V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.G684V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	684						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCCTTTGCCCCCGCAGCCCCC	0.672000													13	19					0.000151284	0.00016137	0.016723	1	0
ZNF516	9658	broad.mit.edu	37	18	74154630	74154630	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr18:74154630C>A	ENST00000443185.2	-	3	698	c.381G>T	c.(379-381)ctG>ctT	p.L127L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCCCGTTCAGCAGCCGGTTGC	0.751000													5	6					5.18039e-06	5.61381e-06	0.003080	1	0
OAS2	4939	broad.mit.edu	37	12	113444353	113444353	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:113444353G>T	ENST00000392583.2	+	8	1811	c.1604G>T	c.(1603-1605)cGg>cTg	p.R535L	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.R535L	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	535	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATTCGCTCCCGGCCCACCAAA	0.463000													97	198					5.89325e-56	8.13688e-56	0.014410	1	0
C6orf165	154313	broad.mit.edu	37	6	88140765	88140765	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:88140765G>A	ENST00000507897.1	+	10	1257	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	C6ORF165_ENST00000369562.4_Missense_Mutation_p.V392M			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	392										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TAGAGTAAATGTGGCAGATTT	0.328000													16	49					0	0	0.028581	0	0
HERC1	8925	broad.mit.edu	37	15	64041644	64041644	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr15:64041644C>A	ENST00000443617.2	-	10	2228	c.2141G>T	c.(2140-2142)gGc>gTc	p.G714V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	714					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCCATCTAAGCCACTCACTTT	0.428000													74	128					6.6428e-20	8.48282e-20	0.014410	1	0
CCDC14	64770	broad.mit.edu	37	3	123634533	123634533	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:123634533G>A	ENST00000485727.1	-	9	5947	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.S452F|CCDC14_ENST00000310351.4_Missense_Mutation_p.S492F|CCDC14_ENST00000488653.2_Missense_Mutation_p.S652F|CCDC14_ENST00000433542.2_Missense_Mutation_p.S611F			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	652						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACTAAGATCGGAGAGAAGCTT	0.383000													70	187					0	0	0.014410	0	0
ZNF318	24149	broad.mit.edu	37	6	43306786	43306786	+	Silent	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:43306786C>A	ENST00000361428.2	-	10	5027	c.4950G>T	c.(4948-4950)ctG>ctT	p.L1650L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1650					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTAGGGCCACCAGAGTTTTTG	0.493000													80	208					1.43161e-34	1.92771e-34	0.014410	1	0
RAD18	56852	broad.mit.edu	37	3	8944189	8944189	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:8944189C>A	ENST00000264926.2	-	10	1159	c.1043G>T	c.(1042-1044)aGt>aTt	p.S348I		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	348					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CTGAAATTCACTCTTATGTTT	0.333000								Rad6 pathway					33	93					2.19358e-23	2.89638e-23	0.023175	1	0
CSMD3	114788	broad.mit.edu	37	8	113395847	113395847	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:113395847C>A	ENST00000297405.5	-	37	6224	c.5980G>T	c.(5980-5982)Gac>Tac	p.D1994Y	CSMD3_ENST00000352409.3_Missense_Mutation_p.D1924Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1954Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1890Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1994	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCATAAAAGTCCAGAGAATCC	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			45	109					1.66251e-12	1.92426e-12	0.014410	1	0
FAM160B1	57700	broad.mit.edu	37	10	116602933	116602933	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:116602933C>T	ENST00000369248.4	+	6	1099	c.764C>T	c.(763-765)cCa>cTa	p.P255L	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P255L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	255										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GTTGTTTGTCCAAATCAGGAT	0.413000													64	111					0	0	0.014410	0	0
MYO18B	84700	broad.mit.edu	37	22	26164925	26164925	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr22:26164925A>G	ENST00000335473.7	+	4	1292	c.1042A>G	c.(1042-1044)Aca>Gca	p.T348A	MYO18B_ENST00000407587.2_Missense_Mutation_p.T348A|MYO18B_ENST00000536101.1_Missense_Mutation_p.T348A	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	348						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCAGAGAAGACAGGTGAGCC	0.547000													7	18					0	0	0.001984	0	0
VWA3B	200403	broad.mit.edu	37	2	98828426	98828426	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:98828426A>T	ENST00000477737.1	+	13	1975	c.1771A>T	c.(1771-1773)Aaa>Taa	p.K591*	VWA3B_ENST00000435344.1_Nonsense_Mutation_p.K591*|VWA3B_ENST00000451075.2_Nonsense_Mutation_p.K441*	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	591	VWFA.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGTGCCCTGAAAACTGCTTT	0.443000													28	98					0	0	0.012213	0	0
RNF112	7732	broad.mit.edu	37	17	19315865	19315865	+	Silent	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:19315865G>T	ENST00000461366.1	+	3	365	c.150G>T	c.(148-150)gcG>gcT	p.A50A	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_3'UTR	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	50							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						AGCCCATGGCGCCCCGGGAGC	0.617000													9	42					4.68919e-08	5.12233e-08	0.008291	1	0
HEATR4	399671	broad.mit.edu	37	14	73985749	73985749	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:73985749A>T	ENST00000553558.1	-	5	1509	c.1188T>A	c.(1186-1188)agT>agA	p.S396R	HEATR4_ENST00000334988.2_Missense_Mutation_p.S396R|HEATR4_ENST00000560393.1_Missense_Mutation_p.S349R|RP3-414A15.11_ENST00000553394.1_RNA	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTGCCTGGGCACTCCACTTTT	0.468000													38	114					0	0	0.023175	0	0
RYR2	6262	broad.mit.edu	37	1	237758918	237758918	+	Silent	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:237758918A>T	ENST00000366574.2	+	34	4874	c.4557A>T	c.(4555-4557)acA>acT	p.T1519T	RYR2_ENST00000542537.1_Silent_p.T1503T|RYR2_ENST00000360064.6_Silent_p.T1517T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1519	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTGCTCACATTCATTGCCA	0.517000													10	51					0	0	0.008291	0	0
UBE2J1	51465	broad.mit.edu	37	6	90052081	90052081	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:90052081C>G	ENST00000435041.2	-	3	477	c.199G>C	c.(199-201)Gag>Cag	p.E67Q		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	67						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		ATGGGATACTCTGGTGGCAGT	0.448000													16	76					0	0	0.024245	0	0
NAIP	4671	broad.mit.edu	37	5	70308192	70308192	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:70308192G>C	ENST00000517649.1	-	4	841	c.551C>G	c.(550-552)gCt>gGt	p.A184G	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.A184G|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.A184G	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	184					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GACAAAGCCAGCCTCTGAGAG	0.413000													22	76					0	0	0.016522	0	0
CROCC	9696	broad.mit.edu	37	1	17263291	17263291	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:17263291G>A	ENST00000375541.5	+	9	1185	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	372			R -> Q (in dbSNP:rs57442576).		cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGCAGCTGCGGGACAAGGTGC	0.677000													12	54					0	0	0.013537	0	0
FAM135B	51059	broad.mit.edu	37	8	139144990	139144990	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:139144990G>A	ENST00000395297.1	-	20	4237	c.4067C>T	c.(4066-4068)gCc>gTc	p.A1356V		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1356										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCAGTCCTTGGCTTCAACCAG	0.537000										HNSCC(54;0.14)			96	513					0	0	0.014410	0	0
PCDH1	5097	broad.mit.edu	37	5	141233630	141233630	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:141233630C>T	ENST00000287008.3	-	5	3838	c.3691G>A	c.(3691-3693)Gcc>Acc	p.A1231T	PCDH1_ENST00000503492.1_3'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCGCGCTTGGCCGTCTGGGCA	0.672000													3	26					0	0	0.004672	0	0
CST7	8530	broad.mit.edu	37	20	24937978	24937978	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr20:24937978A>G	ENST00000480798.1	+	2	402	c.126A>G	c.(124-126)atA>atG	p.I42M	CST7_ENST00000376835.2_Missense_Mutation_p.I64M	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	42					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CTAAAACAATAAAGACCAATG	0.458000													97	312					0	0	0.014410	0	0
APOB	338	broad.mit.edu	37	2	21245717	21245717	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:21245717C>A	ENST00000233242.1	-	18	2929	c.2802G>T	c.(2800-2802)aaG>aaT	p.K934N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	934	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACTGAGCAGCTTGACTGGTC	0.478000													18	55					6.94344e-10	7.93536e-10	0.006122	1	0
SPATS2	65244	broad.mit.edu	37	12	49883256	49883256	+	Silent	SNP	G	G	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:49883256G>C	ENST00000553127.1	+	6	627	c.114G>C	c.(112-114)gcG>gcC	p.A38A	SPATS2_ENST00000552918.1_Silent_p.A38A|SPATS2_ENST00000321898.6_Silent_p.A38A			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	38						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGATAAATGCGGTACGTGCAA	0.373000													18	43					0	0	0.007413	0	0
SCN1A	6323	broad.mit.edu	37	2	166848385	166848385	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:166848385C>T	ENST00000423058.2	-	26	5417	c.5400G>A	c.(5398-5400)ctG>ctA	p.L1800L	SCN1A_ENST00000375405.3_Silent_p.L1789L|SCN1A_ENST00000303395.4_Silent_p.L1800L|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L1772L|AC010127.3_ENST00000595647.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1800						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CATCCTCACTCAGAGGCTCTG	0.433000													33	154					0	0	0.019004	0	0
SMCO3	440087	broad.mit.edu	37	12	14959602	14959602	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:14959602C>A	ENST00000316048.2	-	2	85	c.13G>T	c.(13-15)Gac>Tac	p.D5Y	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2			single-pass membrane protein with coiled-coil domains 3																		TAAAGGAAGTCACTTTGGGCC	0.388000													34	170					4.65686e-17	5.75758e-17	0.017118	1	0
CNPY2	10330	broad.mit.edu	37	12	56708706	56708706	+	Missense_Mutation	SNP	C	C	G	rs79111613		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:56708706C>G	ENST00000273308.4	-	3	673	c.133G>C	c.(133-135)Gtg>Ctg	p.V45L	CNPY2_ENST00000551720.1_5'UTR|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.V45L	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	45	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						TTGGGGTCCACCTGGGCAATT	0.537000													6	172					0	0	0.021553	0	0
SYNE1	23345	broad.mit.edu	37	6	152555059	152555059	+	Missense_Mutation	SNP	A	A	G	rs34669584		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:152555059A>G	ENST00000367255.5	-	112	21170	c.20569T>C	c.(20569-20571)Tca>Cca	p.S6857P	SYNE1_ENST00000341594.5_Missense_Mutation_p.S6469P|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1381P|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6786P|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6786P|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6857P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6857					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAACAGATGATTTCAGGGAA	0.438000										HNSCC(10;0.0054)			4	86					0	0	0.014758	0	0
AKAP1	8165	broad.mit.edu	37	17	55195783	55195783	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:55195783G>T	ENST00000337714.3	+	9	2775	c.2542G>T	c.(2542-2544)Gag>Tag	p.E848*	AKAP1_ENST00000539273.1_Nonsense_Mutation_p.E848*|AKAP1_ENST00000571629.1_Nonsense_Mutation_p.E848*|AKAP1_ENST00000572557.1_Nonsense_Mutation_p.E848*	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	848					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CGCCATGAGCGAGATGACGGG	0.562000													5	96					0.014758	0.0154391	0.014758	1	0
AP3B1	8546	broad.mit.edu	37	5	77521392	77521392	+	Missense_Mutation	SNP	C	C	T	rs149521661		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:77521392C>T	ENST00000255194.6	-	6	752	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	AP3B1_ENST00000519295.1_Missense_Mutation_p.E144K	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	193					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AGAAGTTTTTCAATTACTTCA	0.254000									Hermansky-Pudlak syndrome				13	41					0	0	0.016723	0	0
SMR3A	26952	broad.mit.edu	37	4	71232413	71232413	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:71232413C>A	ENST00000226460.4	+	3	203	c.107C>A	c.(106-108)gCt>gAt	p.A36D		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	36	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				GGACCACTGGCTCCTCCTCCT	0.488000													46	162					1.19451e-25	1.59268e-25	0.014410	1	0
PCLO	27445	broad.mit.edu	37	7	82579984	82579984	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:82579984A>G	ENST00000423517.2	-	6	10257	c.9920T>C	c.(9919-9921)cTg>cCg	p.L3307P	PCLO_ENST00000333891.8_Missense_Mutation_p.L3307P|PCLO_ENST00000437081.1_Missense_Mutation_p.L27P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3238					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCTCCTCCAGCTGCTGGTG	0.502000													40	166					0	0	0.011902	0	0
MFN1	55669	broad.mit.edu	37	3	179095193	179095193	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:179095193C>T	ENST00000471841.1	+	12	1412	c.1286C>T	c.(1285-1287)tCa>tTa	p.S429L	MFN1_ENST00000263969.5_Missense_Mutation_p.S429L|MFN1_ENST00000280653.7_Missense_Mutation_p.S429L	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	429					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GAATTTTGTTCAGAGTTTCAT	0.264000													32	123					0	0	0.021022	0	0
SERPINA10	51156	broad.mit.edu	37	14	94750385	94750385	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:94750385G>A	ENST00000554723.1	-	5	1790	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W	SERPINA10_ENST00000393096.1_Missense_Mutation_p.R418W|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R418W|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R418W			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	418					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGAAATGGCCGGTCCACTTTG	0.453000													4	156					0	0	0.009096	0	0
SLC12A7	10723	broad.mit.edu	37	5	1089145	1089145	+	Silent	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:1089145C>T	ENST00000264930.5	-	4	484	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	147					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGACACCAGCCACCCCCACGA	0.652000													36	124					0	0	0.025465	0	0
TTLL5	23093	broad.mit.edu	37	14	76249857	76249857	+	Silent	SNP	C	C	T	rs140291071	by1000genomes	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:76249857C>T	ENST00000298832.9	+	26	3175	c.2970C>T	c.(2968-2970)ccC>ccT	p.P990P	TTLL5_ENST00000557636.1_Silent_p.P1004P|TTLL5_ENST00000554510.1_Silent_p.P499P|TTLL5_ENST00000556893.1_Silent_p.P541P	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	990					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGTCTCGTCCCTCTTCAGCAA	0.512000													33	129					0	0	0.017118	0	0
TTC37	9652	broad.mit.edu	37	5	94852062	94852062	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:94852062T>C	ENST00000358746.2	-	25	2927	c.2629A>G	c.(2629-2631)Att>Gtt	p.I877V		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	877			Missing (found in a patient with THE syndrome).				binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTACCTCAATGTTTTCATTT	0.328000													14	80					0	0	0.028581	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905718	164905718	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr3:164905718G>A	ENST00000475390.1	-	2	3344	c.2901C>T	c.(2899-2901)ctC>ctT	p.L967L	SLITRK3_ENST00000241274.3_Silent_p.L967L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	967						integral to membrane		p.L967L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAGGACTTCGAGGTAATCCG	0.388000										HNSCC(40;0.11)			79	270					0	0	0.014410	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077130	19077130	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:19077130C>T	ENST00000329773.2	-	2	907	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	274					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ATGGGGTTGGCACTGCTGTTA	0.473000													36	81					0	0	0.019004	0	0
OR5L2	26338	broad.mit.edu	37	11	55595068	55595068	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:55595068C>T	ENST00000378397.1	+	1	374	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CGCTTTGTGGCCATCTGTAAC	0.527000										HNSCC(27;0.073)			81	248					0	0	0.014410	0	0
ASH1L	55870	broad.mit.edu	37	1	155340386	155340386	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:155340386C>A	ENST00000368346.3	-	12	7249	c.6610G>T	c.(6610-6612)Gat>Tat	p.D2204Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.D2199Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2204	SET.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATCCCACTATCCAGGTTCAGG	0.418000													58	189					8.99859e-20	1.13843e-19	0.014410	1	0
VPS13A	23230	broad.mit.edu	37	9	79959184	79959184	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:79959184G>T	ENST00000360280.3	+	51	7402	c.7142G>T	c.(7141-7143)cGt>cTt	p.R2381L	VPS13A_ENST00000357409.5_Missense_Mutation_p.R2381L|VPS13A_ENST00000376636.3_Missense_Mutation_p.R2342L|VPS13A_ENST00000376634.4_Missense_Mutation_p.R2381L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2381					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTCTATTGCGTCTAGATAAC	0.299000													72	89					9.98788e-38	1.35835e-37	0.014410	1	0
TRIM17	51127	broad.mit.edu	37	1	228596365	228596365	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:228596365T>C	ENST00000366697.2	-	6	1927	c.971A>G	c.(970-972)gAg>gGg	p.E324G	TRIM17_ENST00000366698.2_Missense_Mutation_p.E324G|TRIM17_ENST00000295033.3_Missense_Mutation_p.E324G|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	324	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CCCACTGCCCTCCGGCGAAGA	0.637000													27	93					0	0	0.021022	0	0
SEPT14	346288	broad.mit.edu	37	7	55874869	55874869	+	Silent	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr7:55874869G>A	ENST00000388975.3	-	8	1016	c.900C>T	c.(898-900)acC>acT	p.T300T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	300					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTGAGTGTGGGTTTTTTCTT	0.348000													42	126					0	0	0.007835	0	0
HYDIN	54768	broad.mit.edu	37	16	70863519	70863519	+	Splice_Site	SNP	A	A	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:70863519A>T	ENST00000393567.2	-	81	14263		c.e81+1			NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTCAGTCTACCTGGTGCTT	0.567000													13	61					0	0	0.020292	0	0
NOX3	50508	broad.mit.edu	37	6	155728305	155728305	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr6:155728305G>T	ENST00000159060.2	-	12	1641	c.1539C>A	c.(1537-1539)aaC>aaA	p.N513K		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	513							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CATTGTTCCAGTTGGGCCTCC	0.478000													25	134					5.45024e-15	6.50204e-15	0.018920	1	0
TMEM132D	121256	broad.mit.edu	37	12	129694087	129694087	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:129694087G>T	ENST00000422113.2	-	5	1747	c.1421C>A	c.(1420-1422)tCg>tAg	p.S474*	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	474						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCATCAGACGATCTACACTC	0.592000													7	58					0.00198382	0.00210781	0.001984	1	0
MSLN	10232	broad.mit.edu	37	16	815291	815291	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr16:815291G>A	ENST00000566549.1	+	8	1109	c.692G>A	c.(691-693)gGa>gAa	p.G231E	MSLN_ENST00000382862.3_Missense_Mutation_p.G231E|MSLN_ENST00000545450.2_Missense_Mutation_p.G231E|MSLN_ENST00000563941.1_Missense_Mutation_p.G231E			Q13421	MSLN_HUMAN	mesothelin	231					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CAGGGCGGGGGACCCCCCTAC	0.692000													6	6					0	0	0.021553	0	0
MIEF2	125170	broad.mit.edu	37	17	18166425	18166425	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:18166425G>T	ENST00000323019.4	+	3	384	c.173G>T	c.(172-174)cGg>cTg	p.R58L	SMCR7_ENST00000578174.1_Missense_Mutation_p.R58L|SMCR7_ENST00000395706.2_Missense_Mutation_p.R69L|SMCR7_ENST00000395703.4_Missense_Mutation_p.R58L|SMCR7_ENST00000395704.4_Missense_Mutation_p.R58L|SMCR7_ENST00000578621.1_Missense_Mutation_p.R58L|SMCR7_ENST00000577216.1_Intron	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		58						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					ACTAGCCCGCGGGATGAGGAT	0.577000													16	116					2.39187e-15	2.87871e-15	0.008871	1	0
RBMXL1	494115	broad.mit.edu	37	1	89448494	89448495	+	In_Frame_Ins	INS	-	-	CAC			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr1:89448494_89448495insCAC	ENST00000399794.2	-	3	1730_1731	c.1015_1016insGTG	c.(1015-1017)cag>GTGcag	p.338_339insV	CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_In_Frame_Ins_p.338_339insV|CCBL2_ENST00000370491.3_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	338	Ser-rich.						nucleotide binding|RNA binding										GCCAACCCTGTCACAACTTGAG	0.505													12	417	---	---	---	---					
MYO7B	4648	broad.mit.edu	37	2	128331588	128331589	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:128331588_128331589delGC	ENST00000389524.4	+	7	739_740	c.686_687delGC	c.(685-687)gfs	p.G229fs	MYO7B_ENST00000409816.2_Frame_Shift_Del_p.G229fs|MYO7B_ENST00000428314.1_Frame_Shift_Del_p.G229fs			Q6PIF6	MYO7B_HUMAN	myosin VIIB	229	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GTGATCGAGGGCGCGCGCATCG	0.584													22	213	---	---	---	---					
NCKAP5	344148	broad.mit.edu	37	2	133542068	133542068	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr2:133542068delC	ENST00000409261.1	-	14	2689	c.2316delG	c.(2314-2316)aafs	p.K772fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.K772fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	772							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTTGACCAGCTTTTGCTGCT	0.423													37	126	---	---	---	---					
KDR	3791	broad.mit.edu	37	4	55976627	55976627	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:55976627delG	ENST00000263923.4	-	9	1493	c.1198delC	c.(1198-1200)ttfs	p.L400fs		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	400	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGATTGGTAAGGATGACAGTG	0.423			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			38	125	---	---	---	---					
SMARCAD1	56916	broad.mit.edu	37	4	95200121	95200121	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr4:95200121delA	ENST00000354268.4	+	19	2411	c.2338delA	c.(2338-2340)aafs	p.K780fs	SMARCAD1_ENST00000509418.1_Frame_Shift_Del_p.K350fs|SMARCAD1_ENST00000457823.2_Frame_Shift_Del_p.K782fs			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	780					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GCAGTTGAGGAAAATGGCCAA	0.338													14	60	---	---	---	---					
KCNN2	3781	broad.mit.edu	37	5	113829151	113829151	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr5:113829151delT	ENST00000512097.3	+	8	2452	c.1434delT	c.(1432-1434)acfs	p.T478fs	KCNN2_ENST00000503706.1_Frame_Shift_Del_p.T130fs|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Frame_Shift_Del_p.T478fs|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	478	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AAGCAAACACTTTGGTGGACT	0.403													21	64	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	12955928	12955930	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:12955928_12955930delAGA	ENST00000276297.4	-	10	3554_3556	c.3145_3147delTCT	c.(3145-3147)del	p.S1049del	DLC1_ENST00000520226.1_In_Frame_Del_p.S538del|DLC1_ENST00000512044.2_In_Frame_Del_p.S646del|DLC1_ENST00000358919.2_In_Frame_Del_p.S612del	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1049					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						CATGCTTGTTAGAAGGTGTGTAT	0.424													51	159	---	---	---	---					
ST18	9705	broad.mit.edu	37	8	53071483	53071483	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:53071483delT	ENST00000276480.7	-	15	2464	c.1781delA	c.(1780-1782)acfs	p.N594fs		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	594						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CTGTGGCTTGTTGGAGAGGAT	0.542													27	340	---	---	---	---					
C8orf34	116328	broad.mit.edu	37	8	69434119	69434119	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:69434119delT	ENST00000337103.4	+	5	2110	c.518delT	c.(517-519)cafs	p.L173fs	C8orf34_ENST00000539993.1_Frame_Shift_Del_p.L198fs|C8orf34_ENST00000518698.1_Frame_Shift_Del_p.L284fs|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000348340.2_Frame_Shift_Del_p.L198fs			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	198					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GCTGATCCCCTAGCTGCTGAA	0.443													35	133	---	---	---	---					
JPH1	56704	broad.mit.edu	37	8	75233214	75233214	+	Frame_Shift_Del	DEL	G	G	-	rs79761162	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr8:75233214delG	ENST00000342232.4	-	1	349	c.309delC	c.(307-309)ccfs	p.P103fs		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	103	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGTAGCGAGCGGGGGTGCACA	0.677													48	73	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	LURAP1L_ENST00000489107.1_3'UTR|RP11-3L8.3_ENST00000417638.1_RNA	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													7	23	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139395007	139395008	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr9:139395007_139395008insA	ENST00000277541.6	-	31	6005_6006	c.5930_5931insT	c.(5929-5931)tcafs	p.S1977fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1977					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCCTACCTGGAAGACACCTTG	0.683			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			67	65	---	---	---	---					
LINC01515	101928913	broad.mit.edu	37	10	67367764	67367767	+	RNA	DEL	TCCC	TCCC	-	rs144927382		TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr10:67367764_67367767delTCCC	ENST00000433152.3	+	0	594																											ccttccttcttccctccctccctc	0.422													3	4	---	---	---	---					
TMEM86A	144110	broad.mit.edu	37	11	18723384	18723386	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr11:18723384_18723386delTCT	ENST00000280734.2	+	3	647_649	c.551_553delTCT	c.(550-555)ctc>c	p.LF184del		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	184						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						AGTGGTGCACTCTTCTTTATCAT	0.586													32	69	---	---	---	---					
ISCU	23479	broad.mit.edu	37	12	108956417	108956426	+	Frame_Shift_Del	DEL	TTCCGTCTGA	TTCCGTCTGA	-	rs67681514	by1000genomes	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr12:108956417_108956426delTTCCGTCTGA	ENST00000535729.1	+	1	41_50	c.19_28delTTCCGTCTGA	c.(19-30)ggfs	p.FRLR7fs	ISCU_ENST00000311893.9_Frame_Shift_Del_p.FRLR7fs|ISCU_ENST00000431221.2_Frame_Shift_Del_p.FRLR7fs|ISCU_ENST00000547005.1_Frame_Shift_Del_p.FRLR7fs|ISCU_ENST00000539593.1_Frame_Shift_Del_p.FRLR7fs|ISCU_ENST00000392807.4_5'UTR|ISCU_ENST00000338291.4_5'UTR			Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	7				F -> G (in Ref. 1; AAG37428 and 3; AAH11906).	iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						GGCTGGGGCTTTCCGTCTGAGGCGGGCGGC	0.729													4	4	---	---	---	---					
ADCY4	196883	broad.mit.edu	37	14	24794669	24794670	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr14:24794669_24794670delAG	ENST00000310677.4	-	15	1849_1850	c.1736_1737delCT	c.(1735-1737)tfs	p.S579fs	ADCY4_ENST00000418030.2_Frame_Shift_Del_p.S579fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.S579fs|ADCY4_ENST00000396747.3_Frame_Shift_Del_p.S272fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	579					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGGGGATTGCAGAGAGTCGGTA	0.540													25	61	---	---	---	---					
GEMIN4	50628	broad.mit.edu	37	17	650275	650279	+	Frame_Shift_Del	DEL	GCGGA	GCGGA	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:650275_650279delGCGGA	ENST00000576778.1	-	1	2312_2316	c.971_975delTCCGC	c.(970-975)cfs	p.LR324fs	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Frame_Shift_Del_p.LR335fs			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	335					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCTGGCTGCTGCGGAGCACGGCCTG	0.629													7	164	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577092	7577092	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr17:7577092delC	ENST00000420246.2	-	8	978	c.846delG	c.(844-846)cgfs	p.R283fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.R283fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R283fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.R283fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R283fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.0?(8)|p.R282R(7)|p.R282H(3)|p.?(2)|p.D281fs*63(2)|p.R283fs*63(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.G279fs*59(1)|p.R283del(1)|p.R283_T284>T(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		CCTCTGTGCGCCGGTCTCTCC	0.557		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)			57	64	---	---	---	---					
MADCAM1	8174	broad.mit.edu	37	19	501696	501719	+	In_Frame_Del	DEL	CTCCCGACACCACCTCCCCGGAGT	CTCCCGACACCACCTCCCCGGAGT	-	rs62130832	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chr19:501696_501719delCTCCCGACACCACCTCCCCGGAGT	ENST00000587541.1	+	2	892_915	c.38_61delCTCCCGACACCACCTCCCCGGAGT	c.(37-63)cct>c	p.PPDTTSPES13del	AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000215637.3_In_Frame_Del_p.PPDTTSPES232del|MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000346144.4_Intron			Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	232					cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCGGAGCCTCCCGACACCACCTCCCCGGAGTCTCCCGACAC	0.665													12	62	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-	rs144357389	byFrequency	TCGA-CN-5363-01A-01D-1434-08	TCGA-CN-5363-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	203f8426-6ec5-427a-9ccf-ec2b4683504d	2fb4cc0c-5da0-49a7-b686-7277b4e56622	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agc>ag	p.SS487del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	487							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)			9	413	---	---	---	---