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
GTF3C3	9330	broad.mit.edu	37	2	197657796	197657796	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:197657796C>T	ENST00000263956.3	-	3	384	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	GTF3C3_ENST00000409364.3_Missense_Mutation_p.E99K	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	99	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						tcttcctcttcctcctcATCA	0.468000													22	30					0	0	0.055883	0	0
TSTA3	7264	broad.mit.edu	37	8	144696379	144696379	+	Silent	SNP	C	C	A	rs144331064	by1000genomes	TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr8:144696379C>A	ENST00000425753.2	-	7	721	c.618G>T	c.(616-618)acG>acT	p.T206T	TSTA3_ENST00000529064.1_Silent_p.T206T	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	206					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	TACCCCACACCGTCAGGGCCG	0.642000													23	65					6.32553e-13	8.03242e-13	0.099896	1	0
BRINP2	57795	broad.mit.edu	37	1	177226443	177226443	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:177226443G>T	ENST00000361539.4	+	4	904	c.592G>T	c.(592-594)Gcc>Tcc	p.A198S	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		198						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCACCAGCTGGCCGCCTCCTA	0.582000													10	32					7.48243e-07	8.39151e-07	0.058154	1	0
DOLK	22845	broad.mit.edu	37	9	131708329	131708329	+	Silent	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr9:131708329G>A	ENST00000372586.3	-	1	1569	c.1254C>T	c.(1252-1254)ccC>ccT	p.P418P	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	418					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						TCAGCCAGATGGGAAGAGACA	0.582000													17	62					0	0	0.033300	0	0
PAXBP1	94104	broad.mit.edu	37	21	34132126	34132126	+	Silent	SNP	G	G	A	rs144407550		TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr21:34132126G>A	ENST00000331923.4	-	6	1344	c.1155C>T	c.(1153-1155)ccC>ccT	p.P385P	PAXBP1_ENST00000290178.4_Silent_p.P385P|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		CAATAGTAACGGGAGTCATCT	0.408000													84	145					0	0	0.048971	0	0
DUSP27	92235	broad.mit.edu	37	1	167097764	167097764	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:167097764G>T	ENST00000361200.2	+	6	3562	c.3396G>T	c.(3394-3396)atG>atT	p.M1132I	DUSP27_ENST00000443333.1_Missense_Mutation_p.M1132I|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.M1132I			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1132					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGAAGAAATGGACGATGAAG	0.522000													18	32					3.99206e-14	5.17889e-14	0.043863	1	0
AFF3	3899	broad.mit.edu	37	2	100623170	100623170	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:100623170C>A	ENST00000317233.4	-	6	1032	c.797G>T	c.(796-798)gGa>gTa	p.G266V	AFF3_ENST00000409236.1_Missense_Mutation_p.G266V|AFF3_ENST00000356421.2_Missense_Mutation_p.G291V|AFF3_ENST00000409579.1_Missense_Mutation_p.G291V	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	266					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGCAGGGACTCCCCTGTATGA	0.582000													28	31					3.65163e-15	4.84194e-15	0.030593	1	0
STAT4	6775	broad.mit.edu	37	2	191934452	191934452	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:191934452A>T	ENST00000392320.2	-	6	825	c.511T>A	c.(511-513)Ttt>Att	p.F171I	STAT4_ENST00000358470.4_Missense_Mutation_p.F171I	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	171					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CTGTAGTCAAATTCGTCTTGC	0.328000													28	110					0	0	0.041601	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709187	176709187	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:176709187C>T	ENST00000367662.3	+	14	5170	c.4006C>T	c.(4006-4008)Cac>Tac	p.H1336Y		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1336					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						TGTCCTTTTCCACCATACCAC	0.488000													65	87					0	0	0.048971	0	0
ITIH5	80760	broad.mit.edu	37	10	7608297	7608297	+	Silent	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr10:7608297C>T	ENST00000256861.6	-	13	2301	c.2223G>A	c.(2221-2223)ttG>ttA	p.L741L	ITIH5_ENST00000446830.2_Silent_p.L523L|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Silent_p.L527L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	741					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGATAGTGCGCAAGTAAGTGC	0.527000													15	13					0	0	0.033300	0	0
OR8H1	219469	broad.mit.edu	37	11	56058409	56058409	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:56058409C>G	ENST00000313022.2	-	1	157	c.130G>C	c.(130-132)Ggg>Cgg	p.G44R		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AATATCATCCCCACATTGCCC	0.423000													97	213					0	0	0.048971	0	0
PITHD1	57095	broad.mit.edu	37	1	24112859	24112859	+	Silent	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:24112859C>T	ENST00000246151.4	+	5	591	c.480C>T	c.(478-480)ttC>ttT	p.F160F	PITHD1_ENST00000374524.1_Silent_p.F47F	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	160	PITH.									haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						CAAAAAACTTCGGAGCAGATA	0.388000													17	43					0	0	0.038395	0	0
C2orf73	129852	broad.mit.edu	37	2	54571011	54571011	+	Splice_Site	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:54571011G>T	ENST00000398634.2	+	3	430		c.e3+1		C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Splice_Site	NM_001100396.1	NP_001093866.1	Q8N5S3	CB073_HUMAN	chromosome 2 open reading frame 73											breast(2)	2						TGTGGAATAGGTAAGGTTTTG	0.398000													7	15					0.00307968	0.00322761	0.038147	1	0
TTC24	164118	broad.mit.edu	37	1	156552098	156552098	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:156552098A>T	ENST00000368236.3	+	3	818	c.782A>T	c.(781-783)cAg>cTg	p.Q261L	TTC24_ENST00000368237.3_Missense_Mutation_p.Q261L|TTC24_ENST00000495690.1_3'UTR	NM_001105669.2	NP_001099139.2	A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	261							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCCTTCCTGCAGGCCCTGCCC	0.627000													6	9					0	0	0.021553	0	0
BRINP2	57795	broad.mit.edu	37	1	177226442	177226442	+	Silent	SNP	G	G	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:177226442G>C	ENST00000361539.4	+	4	903	c.591G>C	c.(589-591)ctG>ctC	p.L197L	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		197						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGCACCAGCTGGCCGCCTCCT	0.577000													10	33					0	0	0.058154	0	0
PAPD7	11044	broad.mit.edu	37	5	6753049	6753049	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:6753049G>T	ENST00000230859.6	+	12	1462	c.1333G>T	c.(1333-1335)Gta>Tta	p.V445L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	445					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACAAGCTGGTGTAGAAGGAAC	0.542000													50	94					5.82388e-19	8.07938e-19	0.048971	1	0
CYP4F8	11283	broad.mit.edu	37	19	15730358	15730358	+	RNA	SNP	A	A	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr19:15730358A>C	ENST00000441682.2	+	0	461							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGGCTGGGTAAGTAACTGTAG	0.537000													30	19					0	0	0.054565	0	0
ZNF679	168417	broad.mit.edu	37	7	63721249	63721249	+	Silent	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:63721249G>A	ENST00000421025.1	+	4	473	c.204G>A	c.(202-204)ctG>ctA	p.L68L	ZNF679_ENST00000255746.4_Silent_p.L68L	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	68	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCACCTGTCTGGAGCAAAATA	0.378000													10	42					0	0	0.069234	0	0
PLXNA4	91584	broad.mit.edu	37	7	131895838	131895838	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:131895838G>A	ENST00000359827.3	-	10	3124	c.2162C>T	c.(2161-2163)aCg>aTg	p.T721M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T721M			Q9HCM2	PLXA4_HUMAN	plexin A4	721						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGCCTTCAGCGTGATAGGCTT	0.652000													8	4					0	0	0.038147	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22487150	22487150	+	Missense_Mutation	SNP	C	C	T	rs146610334		TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr12:22487150C>T	ENST00000396037.4	-	1	498	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	ST8SIA1_ENST00000536558.1_Intron|ST8SIA1_ENST00000404299.3_Missense_Mutation_p.R6Q|ST8SIA1_ENST00000381424.3_Missense_Mutation_p.R6Q	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	6					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TCGCCGGGCCCGCCCGCAGGG	0.731000													21	22					0	0	0.055883	0	0
ANO2	57101	broad.mit.edu	37	12	5685081	5685081	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr12:5685081A>T	ENST00000356134.5	-	25	2614	c.2543T>A	c.(2542-2544)cTc>cAc	p.L848H	ANO2_ENST00000327087.8_Missense_Mutation_p.L847H|ANO2_ENST00000546188.1_Missense_Mutation_p.L848H	NM_001278596.1|NM_001278597.1	NP_001265525.1|NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	852						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GAAAAAGGAGAGGGTGTGGTT	0.517000													14	8					0	0	0.024245	0	0
ASTN1	460	broad.mit.edu	37	1	176863906	176863906	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:176863906G>A	ENST00000367654.2	-	17	2769	c.2756C>T	c.(2755-2757)cCa>cTa	p.P919L	ASTN1_ENST00000424564.2_Missense_Mutation_p.P911L|ASTN1_ENST00000367657.3_Missense_Mutation_p.P911L|ASTN1_ENST00000361833.2_Missense_Mutation_p.P911L			O14525	ASTN1_HUMAN	astrotactin 1	919					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATGTATTCTGGGAATGTCAG	0.562000													51	89					0	0	0.048971	0	0
OR11H6	122748	broad.mit.edu	37	14	20691969	20691969	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr14:20691969G>T	ENST00000315519.2	+	1	179	c.101G>T	c.(100-102)gGt>gTt	p.G34V		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GTCCTCCTGGGTTTCCATGGT	0.433000													75	54					6.6428e-20	9.32323e-20	0.048971	1	0
PGR	5241	broad.mit.edu	37	11	100922259	100922259	+	Silent	SNP	A	A	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:100922259A>T	ENST00000325455.5	-	5	3706	c.2253T>A	c.(2251-2253)atT>atA	p.I751I	PGR_ENST00000263463.5_Silent_p.I649I|PGR_ENST00000534013.1_Silent_p.I157I	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	751	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AAGAATACTGAATGAGAGTTA	0.343000													28	68					0	0	0.108266	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181198	19181198	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:19181198G>A	ENST00000375371.3	-	3	787	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	256					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTCACCAGGCGCTGGCGCTCC	0.637000													7	33					0	0	0.038147	0	0
JPH2	57158	broad.mit.edu	37	20	42788302	42788302	+	Silent	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr20:42788302G>T	ENST00000372980.3	-	2	1997	c.1125C>A	c.(1123-1125)cgC>cgA	p.R375R		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	375	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TAGCAGCGGCGCGCTGGGCAC	0.667000													13	31					1.5739e-10	1.88868e-10	0.028581	1	0
CTTNBP2	83992	broad.mit.edu	37	7	117432175	117432175	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:117432175G>C	ENST00000160373.3	-	4	1166	c.1075C>G	c.(1075-1077)Cag>Gag	p.Q359E		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	359										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)		TAGGAAGCCTGCCTGTCAATA	0.522000													25	89					0	0	0.083992	0	0
LAMA1	284217	broad.mit.edu	37	18	7002306	7002306	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr18:7002306T>A	ENST00000389658.3	-	30	4432	c.4339A>T	c.(4339-4341)Agt>Tgt	p.S1447C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1447	Laminin EGF-like 15.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCACAGTCACTTGCTGAGCCA	0.577000													12	68					0	0	0.093190	0	0
OR6N2	81442	broad.mit.edu	37	1	158747268	158747268	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:158747268G>A	ENST00000339258.1	-	1	157	c.158C>T	c.(157-159)gCa>gTa	p.A53V		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GTGCAGAGCTGCATCCAGTCG	0.468000													65	118					0	0	0.048971	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417443	150417443	+	Silent	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:150417443G>A	ENST00000307194.5	+	3	491	c.351G>A	c.(349-351)ctG>ctA	p.L117L		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1									p.L117L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTGCTCCTGGTGACCCAGT	0.617000													24	31					0	0	0.076483	0	0
FAM171B	165215	broad.mit.edu	37	2	187627205	187627205	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:187627205T>A	ENST00000304698.5	+	8	2339	c.2136T>A	c.(2134-2136)aaT>aaA	p.N712K		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	712						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGGACATGAATGAGCTTCACT	0.458000													22	60					0	0	0.062417	0	0
OR2M7	391196	broad.mit.edu	37	1	248487523	248487523	+	Silent	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:248487523A>G	ENST00000317965.2	-	1	376	c.348T>C	c.(346-348)gcT>gcC	p.A116A		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGACATAACAGCCAACAGAA	0.443000													155	255					0	0	0.048971	0	0
UBE2U	148581	broad.mit.edu	37	1	64671320	64671320	+	Splice_Site	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:64671320A>G	ENST00000371077.4	+	2	490		c.e2-1		UBE2U_ENST00000371076.3_Splice_Site			Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)								ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						TTTAACTTCAAGGGTATCACT	0.303000													24	44					0	0	0.076483	0	0
NEURL3	93082	broad.mit.edu	37	2	97164022	97164022	+	RNA	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:97164022C>T	ENST00000310865.3	-	0	1070									neuralized E3 ubiquitin protein ligase 3																		GGGCCCTGCGCAGGGGCTACC	0.627000													3	16					0	0	0.004672	0	0
OR2M2	391194	broad.mit.edu	37	1	248343812	248343812	+	Silent	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:248343812C>A	ENST00000359682.2	+	1	525	c.525C>A	c.(523-525)gcC>gcA	p.A175A		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	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;0.0245)			GGGAAATAGCCCACTTCTTCT	0.423000													199	321					2.23176e-90	3.64369e-90	0.048971	1	0
OR2A14	135941	broad.mit.edu	37	7	143826991	143826991	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:143826991G>T	ENST00000408899.2	+	1	841	c.786G>T	c.(784-786)aaG>aaT	p.K262N		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGGCCCCCAAGTCCCGCCATC	0.552000													7	206					8.12818e-05	8.82699e-05	0.029380	1	0
TAS2R5	54429	broad.mit.edu	37	7	141490255	141490255	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:141490255T>A	ENST00000247883.4	+	1	239	c.94T>A	c.(94-96)Ttt>Att	p.F32I		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	32					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GGTCTGGAGTTTTAGAGAATG	0.498000													39	42					0	0	0.074837	0	0
SERPINA9	327657	broad.mit.edu	37	14	94935754	94935754	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr14:94935754G>T	ENST00000337425.5	-	2	552	c.478C>A	c.(478-480)Ctg>Atg	p.L160M	SERPINA9_ENST00000448305.2_Missense_Mutation_p.L62M|SERPINA9_ENST00000380365.3_Missense_Mutation_p.L142M|SERPINA9_ENST00000424550.2_Missense_Mutation_p.L11M|SERPINA9_ENST00000298845.7_Intron|SERPINA9_ENST00000546329.1_Missense_Mutation_p.L124M	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	142					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGCAGCTGCAGCTCCTTCTTG	0.522000													70	56					6.52717e-41	1.03743e-40	0.048971	1	0
PCDHB11	56125	broad.mit.edu	37	5	140579566	140579566	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:140579566G>T	ENST00000354757.3	+	1	219	c.219G>T	c.(217-219)caG>caT	p.Q73H	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		73	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATAAGAAACAGCGTTTGCAGC	0.527000													69	35					1.65906e-26	2.47313e-26	0.048971	1	0
CYP11B2	1585	broad.mit.edu	37	8	143994294	143994294	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr8:143994294G>C	ENST00000323110.2	-	7	1131	c.1129C>G	c.(1129-1131)Cct>Gct	p.P377A		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	377					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGACCCACAGGGTAGAGCCTG	0.602000									Familial Hyperaldosteronism type I				15	19					0	0	0.024245	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552500	140552500	+	Silent	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:140552500C>A	ENST00000231137.3	+	1	258	c.84C>A	c.(82-84)gcC>gcA	p.A28A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		28					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A28A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCTGGCGCCGAACCGCTTC	0.517000													45	31					7.77092e-38	1.22699e-37	0.048971	1	0
HOXD12	3238	broad.mit.edu	37	2	176964707	176964707	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:176964707C>A	ENST00000406506.2	+	1	250	c.178C>A	c.(178-180)Ccc>Acc	p.P60T	HOXD12_ENST00000404162.2_Missense_Mutation_p.P60T			P35452	HXD12_HUMAN	homeobox D12	60						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CTCCTGCGCCCCCGCGCAGCC	0.751000													10	18					2.27111e-07	2.58325e-07	0.093190	1	0
EIF2AK1	27102	broad.mit.edu	37	7	6080534	6080534	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:6080534C>A	ENST00000199389.6	-	9	1254	c.1108G>T	c.(1108-1110)Ggt>Tgt	p.G370C	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.G246C	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	370	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		TCTGTCTGACCCAAAAAGTTG	0.498000													32	100					2.08457e-15	2.79495e-15	0.045705	1	0
DNAJC5B	85479	broad.mit.edu	37	8	67012245	67012245	+	Silent	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr8:67012245A>G	ENST00000276570.5	+	6	866	c.579A>G	c.(577-579)cgA>cgG	p.R193R	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	193					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGGATCTCGAAGTTATTGCA	0.438000													11	36					0	0	0.080935	0	0
GFRA2	2675	broad.mit.edu	37	8	21608281	21608281	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr8:21608281G>T	ENST00000524240.1	-	4	1263	c.613C>A	c.(613-615)Cgc>Agc	p.R205S	GFRA2_ENST00000400782.4_Missense_Mutation_p.R100S|GFRA2_ENST00000518077.1_Missense_Mutation_p.R72S|GFRA2_ENST00000517328.1_Missense_Mutation_p.R205S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	205						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		AAGAACTGGCGCAGGGCCTTG	0.637000													52	72					1.57914e-17	2.14121e-17	0.048971	1	0
PGBD5	79605	broad.mit.edu	37	1	230472975	230472975	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:230472975C>A	ENST00000321327.2	-	6	1043	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	PGBD5_ENST00000525115.1_Missense_Mutation_p.K249N|PGBD5_ENST00000391860.1_Missense_Mutation_p.K203N			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	249						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GGAGCTGGGGCTTATTCTTCA	0.567000													21	35					2.39187e-15	3.18916e-15	0.049695	1	0
FLNA	2316	broad.mit.edu	37	X	153593558	153593558	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chrX:153593558A>G	ENST00000422373.1	-	11	1885	c.1637T>C	c.(1636-1638)gTc>gCc	p.V546A	FLNA_ENST00000344736.4_Missense_Mutation_p.V546A|FLNA_ENST00000369850.3_Missense_Mutation_p.V546A|FLNA_ENST00000360319.4_Missense_Mutation_p.V546A	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	546					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTTCCAGGGACCATGGGGTA	0.622000													69	23					0	0	0.048971	0	0
DLD	1738	broad.mit.edu	37	7	107542810	107542810	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:107542810G>T	ENST00000205402.5	+	4	520	c.239G>T	c.(238-240)tGc>tTc	p.C80F	DLD_ENST00000537148.1_Intron|DLD_ENST00000494441.1_3'UTR|DLD_ENST00000440410.1_Intron|DLD_ENST00000437604.2_Missense_Mutation_p.C80F	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	80					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	GGTGGAACATGCTTGAATGTT	0.368000													20	71					1.96895e-08	2.29392e-08	0.076483	1	0
PKD1	5310	broad.mit.edu	37	16	2161139	2161139	+	Silent	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr16:2161139C>A	ENST00000262304.4	-	15	4237	c.4029G>T	c.(4027-4029)ccG>ccT	p.P1343P	PKD1_ENST00000423118.1_Silent_p.P1343P	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1343	PKD 8.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTGTCACCGTCGGGCACCCCC	0.672000													13	22					4.3838e-07	4.96279e-07	0.105934	1	0
HEATR1	55127	broad.mit.edu	37	1	236719125	236719125	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:236719125A>C	ENST00000366582.3	-	39	5743	c.5629T>G	c.(5629-5631)Ttc>Gtc	p.F1877V	HEATR1_ENST00000366581.2_Missense_Mutation_p.F1796V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1877					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGGCTCGGAAGTCCAGGGCT	0.493000													13	137					0	0	0.105934	0	0
TNR	7143	broad.mit.edu	37	1	175375666	175375666	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:175375666G>A	ENST00000367674.1	-	3	893	c.185C>T	c.(184-186)cCt>cTt	p.P62L	TNR_ENST00000263525.2_Missense_Mutation_p.P62L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	62					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAAGACCACAGGCTGCTCTTT	0.552000													67	133					0	0	0.048971	0	0
LCE2A	353139	broad.mit.edu	37	1	152671522	152671522	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:152671522G>T	ENST00000368779.1	+	2	196	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	49	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCAGCTCTGGGGGCTGCTG	0.687000													60	156					1.80625e-27	2.70938e-27	0.048971	1	0
CHST3	9469	broad.mit.edu	37	10	73767038	73767038	+	Silent	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr10:73767038C>A	ENST00000373115.4	+	3	686	c.249C>A	c.(247-249)ctC>ctA	p.L83L		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	83					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						TGAGCGAGCTCGATTCAGCCT	0.597000													22	10					3.8784e-16	5.22931e-16	0.062417	1	0
DPP6	1804	broad.mit.edu	37	7	154564630	154564630	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:154564630C>A	ENST00000404039.1	+	10	1509	c.922C>A	c.(922-924)Ccg>Acg	p.P308T	DPP6_ENST00000377770.3_Missense_Mutation_p.P372T|DPP6_ENST00000427557.1_Missense_Mutation_p.P265T|DPP6_ENST00000332007.3_Missense_Mutation_p.P310T	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	372					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGAGATGATGCCGCCTGATGA	0.438000													7	27					0.000157383	0.000170144	0.038147	1	0
CSMD3	114788	broad.mit.edu	37	8	113569034	113569034	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr8:113569034C>A	ENST00000297405.5	-	25	4436	c.4192G>T	c.(4192-4194)Ggg>Tgg	p.G1398W	CSMD3_ENST00000455883.2_Missense_Mutation_p.G1294W|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1398W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1358W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1398	Sushi 7.					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						CTTCTCTCCCCTGTCATGCAC	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	58					2.14196e-07	2.45966e-07	0.034045	1	0
ZNF804B	219578	broad.mit.edu	37	7	88964140	88964140	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:88964140A>T	ENST00000333190.4	+	4	2453	c.1844A>T	c.(1843-1845)aAg>aTg	p.K615M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	615						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GGCTGCAGAAAGGCAGTTCTA	0.388000										HNSCC(36;0.09)			16	59					0	0	0.038395	0	0
SLIT2	9353	broad.mit.edu	37	4	20570575	20570575	+	Silent	SNP	A	A	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr4:20570575A>T	ENST00000504154.1	+	29	3288	c.3036A>T	c.(3034-3036)acA>acT	p.T1012T	SLIT2_ENST00000273739.5_Silent_p.T1016T|SLIT2_ENST00000503837.1_Silent_p.T1008T|SLIT2_ENST00000503823.1_Silent_p.T1004T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1012	EGF-like 3; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATAATTCTACATGTGTCGATG	0.363000													41	55					0	0	0.080422	0	0
LAMA3	3909	broad.mit.edu	37	18	21481106	21481106	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr18:21481106G>A	ENST00000313654.9	+	48	6261	c.6020G>A	c.(6019-6021)aGg>aAg	p.R2007K	LAMA3_ENST00000587184.1_Missense_Mutation_p.R342K|LAMA3_ENST00000269217.6_Missense_Mutation_p.R398K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.R1951K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2007	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACCGGATAAGGACCTGGCAG	0.438000													11	29					0	0	0.020292	0	0
PTGES3	10728	broad.mit.edu	37	12	57058275	57058275	+	Silent	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr12:57058275T>A	ENST00000262033.6	-	8	771	c.471A>T	c.(469-471)ccA>ccT	p.P157P	PTGES3_ENST00000456859.2_Silent_p.P121P|PTGES3_ENST00000436399.2_Silent_p.P124P|PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000414274.3_Silent_p.P127P|PTGES3_ENST00000448157.2_Silent_p.P136P	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)	157	Asp/Glu-rich.				chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance	cytosol|telomerase holoenzyme complex	prostaglandin-E synthase activity|telomerase activity|unfolded protein binding			large_intestine(1)|lung(1)	2						ACTCCAGATCTGGCATTTCTG	0.299000													29	27					0	0	0.045705	0	0
SLC26A7	115111	broad.mit.edu	37	8	92261960	92261960	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr8:92261960G>T	ENST00000276609.3	+	2	320	c.81G>T	c.(79-81)tgG>tgT	p.W27C	SLC26A7_ENST00000523719.1_Missense_Mutation_p.W27C|SLC26A7_ENST00000309536.2_Missense_Mutation_p.W27C	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	27						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTATACAGTGGTGTAGAAGGC	0.428000													29	67					2.12542e-12	2.65677e-12	0.030593	1	0
OR52N2	390077	broad.mit.edu	37	11	5842468	5842468	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:5842468G>T	ENST00000317037.2	+	1	925	c.903G>T	c.(901-903)caG>caT	p.Q301H	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGACCAAGCAGATTCAGGAAG	0.383000													57	38					1.78197e-24	2.57633e-24	0.048971	1	0
OR2A12	346525	broad.mit.edu	37	7	143792488	143792488	+	Silent	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:143792488C>T	ENST00000408949.2	+	1	348	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTGCTCCTTGCATACTTCAGA	0.443000													22	105					0	0	0.076483	0	0
LIG4	3981	broad.mit.edu	37	13	108863171	108863171	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr13:108863171T>A	ENST00000356922.4	-	2	718	c.446A>T	c.(445-447)aAc>aTc	p.N149I	LIG4_ENST00000442234.1_Missense_Mutation_p.N149I|LIG4_ENST00000405925.1_Missense_Mutation_p.N149I	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	149					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TAAAAGGTCGTTTACTTGCTG	0.368000								Non-homologous end-joining					111	47					0	0	0.048971	0	0
TRIM51	84767	broad.mit.edu	37	11	55658922	55658922	+	Silent	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:55658922C>A	ENST00000449290.2	+	7	1265	c.1173C>A	c.(1171-1173)ctC>ctA	p.L391L	TRIM51_ENST00000244891.3_Silent_p.L248L	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	391	B30.2/SPRY.					intracellular	zinc ion binding										ACTGCAGTCTCTTTACCACCT	0.443000													32	68					3.38236e-24	4.86087e-24	0.092188	1	0
TNR	7143	broad.mit.edu	37	1	175355377	175355377	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:175355377T>A	ENST00000367674.1	-	8	2276	c.1568A>T	c.(1567-1569)gAg>gTg	p.E523V	TNR_ENST00000263525.2_Missense_Mutation_p.E523V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	523	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGGAATCCACTCCACAAAAGC	0.537000													15	30					0	0	0.020292	0	0
ATP1A4	480	broad.mit.edu	37	1	160141399	160141399	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:160141399G>T	ENST00000368081.4	+	12	2177	c.1706G>T	c.(1705-1707)aGc>aTc	p.S569I	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	569					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AATCTGCCTAGCAGCTTCTCC	0.473000													96	182					1.58717e-37	2.48967e-37	0.048971	1	0
DYSF	8291	broad.mit.edu	37	2	71894573	71894573	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:71894573G>T	ENST00000258104.3	+	47	5545	c.5268G>T	c.(5266-5268)caG>caT	p.Q1756H	DYSF_ENST00000409651.1_Missense_Mutation_p.Q1788H|DYSF_ENST00000409762.1_Missense_Mutation_p.Q1773H|DYSF_ENST00000410041.1_Missense_Mutation_p.Q1774H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409366.1_Missense_Mutation_p.Q1778H|DYSF_ENST00000394120.2_Missense_Mutation_p.Q1757H|DYSF_ENST00000413539.2_Missense_Mutation_p.Q1787H|DYSF_ENST00000409582.3_Missense_Mutation_p.Q1794H|DYSF_ENST00000429174.2_Missense_Mutation_p.Q1777H|DYSF_ENST00000410020.3_Missense_Mutation_p.Q1795H|DYSF_ENST00000409744.1_Missense_Mutation_p.Q1764H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1756						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATGTGCTTCAGCAGCAGGGCC	0.627000													45	58					1.7489e-18	2.3985e-18	0.042209	1	0
PSG3	5671	broad.mit.edu	37	19	43244532	43244532	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr19:43244532C>A	ENST00000327495.5	-	1	189	c.5G>T	c.(4-6)gGg>gTg	p.G2V	PSG3_ENST00000595140.1_Missense_Mutation_p.G2V	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	2					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGAGAGGGGCCCCATGGTCTC	0.607000													73	61					4.83248e-46	7.73197e-46	0.048971	1	0
HAUS8	93323	broad.mit.edu	37	19	17170437	17170437	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr19:17170437G>T	ENST00000593360.1	-	5	2185	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	HAUS8_ENST00000448593.2_Missense_Mutation_p.P116Q|HAUS8_ENST00000253669.5_Missense_Mutation_p.P117Q			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	117					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						TGCTAACTGTGGCGTCTTTTT	0.413000													21	25					2.4624e-09	2.89694e-09	0.049695	1	0
MMP9	4318	broad.mit.edu	37	20	44640804	44640804	+	Silent	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr20:44640804G>T	ENST00000372330.3	+	7	1045	c.1026G>T	c.(1024-1026)tcG>tcT	p.S342S		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	342	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GGGGCAACTCGGCGGGGGAGC	0.632000													49	100					6.14515e-18	8.37975e-18	0.048971	1	0
CSMD2	114784	broad.mit.edu	37	1	34002679	34002679	+	Silent	SNP	C	C	A	rs61801993	byFrequency	TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:34002679C>A	ENST00000373381.4	-	62	9998	c.9822G>T	c.(9820-9822)acG>acT	p.T3274T		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3130						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGTCCGCACACGTGGTCAGGG	0.517000													4	96					1.23904e-05	1.35785e-05	0.014758	1	0
SFMBT2	57713	broad.mit.edu	37	10	7325988	7325988	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr10:7325988C>T	ENST00000361972.4	-	6	740	c.650G>A	c.(649-651)cGc>cAc	p.R217H	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R217H	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	217					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ATAGCGAAGGCGTAATCTTCC	0.418000													51	65					0	0	0.048971	0	0
CCDC178	374864	broad.mit.edu	37	18	30554619	30554619	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr18:30554619G>T	ENST00000383096.3	-	22	2597	c.2415C>A	c.(2413-2415)caC>caA	p.H805Q	CCDC178_ENST00000581852.1_Missense_Mutation_p.H10Q|CCDC178_ENST00000402325.1_Missense_Mutation_p.H755Q|CCDC178_ENST00000579947.1_Missense_Mutation_p.H805Q|CCDC178_ENST00000583930.1_Missense_Mutation_p.H829Q|CCDC178_ENST00000579916.1_Missense_Mutation_p.H125Q|CCDC178_ENST00000300227.8_Missense_Mutation_p.H767Q|CCDC178_ENST00000403303.1_Missense_Mutation_p.H805Q|CCDC178_ENST00000406524.2_Missense_Mutation_p.H829Q					coiled-coil domain containing 178																		GCCACAGTGTGTGCATCCTTC	0.483000													13	13					0.000219431	0.000236159	0.020292	1	0
FCGR3B	2215	broad.mit.edu	37	1	161595976	161595976	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:161595976T>G	ENST00000294800.3	-	4	809	c.536A>C	c.(535-537)aAa>aCa	p.K179T	FCGR3B_ENST00000367964.2_Missense_Mutation_p.K179T|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.K215T|FCGR2B_ENST00000403078.3_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000367962.4_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	179	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGACACATTTTTACTCCCAAC	0.483000													8	119					0	0	0.058154	0	0
EFCAB6	64800	broad.mit.edu	37	22	43930600	43930600	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr22:43930600G>C	ENST00000262726.7	-	30	4454	c.4201C>G	c.(4201-4203)Cac>Gac	p.H1401D	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_Missense_Mutation_p.H1249D|EFCAB6-AS1_ENST00000431327.2_RNA	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1401	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCATCCTGTGCATCAGTGAG	0.433000													12	21					0	0	0.105934	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73944212	73944212	+	Silent	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:73944212G>A	ENST00000476977.1	+	9	2930	c.1239G>A	c.(1237-1239)ctG>ctA	p.L413L	GTF2IRD1_ENST00000455841.2_Silent_p.L445L|GTF2IRD1_ENST00000265755.3_Silent_p.L413L|GTF2IRD1_ENST00000424337.2_Silent_p.L413L|GTF2IRD1_ENST00000489094.1_3'UTR			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	413						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCGGATCCTGGAGGAGCGCC	0.602000													11	20					0	0	0.080935	0	0
XIRP2	129446	broad.mit.edu	37	2	168105645	168105645	+	Silent	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:168105645A>G	ENST00000409195.1	+	9	7832	c.7743A>G	c.(7741-7743)acA>acG	p.T2581T	XIRP2_ENST00000295237.9_Silent_p.T2581T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.T2359T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2406					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACACATAACAGAGGTGGAAA	0.368000													44	81					0	0	0.039052	0	0
HCN1	348980	broad.mit.edu	37	5	45303793	45303793	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:45303793C>A	ENST00000303230.4	-	6	1583	c.1526G>T	c.(1525-1527)gGt>gTt	p.G509V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	509						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			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						CATTTTTTTACCCACGGCTCC	0.398000													42	83					3.54909e-21	5.01048e-21	0.042209	1	0
ALPK2	115701	broad.mit.edu	37	18	56202748	56202748	+	Silent	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr18:56202748C>T	ENST00000361673.3	-	5	4884	c.4671G>A	c.(4669-4671)acG>acA	p.T1557T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1557							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGAGTTGTGCGTGTCAACCC	0.448000													52	32					0	0	0.048971	0	0
PABPC5	140886	broad.mit.edu	37	X	90691565	90691565	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chrX:90691565G>A	ENST00000312600.3	+	2	1203	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	PABPC5_ENST00000373105.1_Missense_Mutation_p.R166Q	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	330	RRM 4.					cytoplasm	nucleotide binding|RNA binding	p.R330L(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						TCAATTAGTCGGGCCAAAGTG	0.458000													42	19					0	0	0.042209	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5191905	5191905	+	Splice_Site	SNP	T	T	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:5191905T>G	ENST00000274181.7	+	8	1451		c.e8+2		ADAMTS16_ENST00000511368.1_Splice_Site	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGACACAAGTAAGTGCATCT	0.443000													47	75					0	0	0.048971	0	0
MYO7B	4648	broad.mit.edu	37	2	128324229	128324229	+	Silent	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:128324229C>T	ENST00000389524.4	+	5	350	c.297C>T	c.(295-297)ggC>ggT	p.G99G	MYO7B_ENST00000409816.2_Silent_p.G99G|MYO7B_ENST00000428314.1_Silent_p.G99G			Q6PIF6	MYO7B_HUMAN	myosin VIIB	99	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)		CATACACAGGCTCCATCCTGG	0.652000													4	15					0	0	0.014758	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993360	96993360	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:96993360G>C	ENST00000361124.4	+	1	1426	c.1015G>C	c.(1015-1017)Gcc>Ccc	p.A339P	ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.A331P|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.A323P|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.A323P	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	331						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAATGCCTGGGCCCTTGTGGC	0.557000													31	53					0	0	0.037714	0	0
PREX1	57580	broad.mit.edu	37	20	47265961	47265961	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr20:47265961T>A	ENST00000396220.1	-	25	3204	c.3182A>T	c.(3181-3183)gAc>gTc	p.D1061V	PREX1_ENST00000371941.3_Missense_Mutation_p.D1061V			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1061					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GAGGCCCCGGTCTTCCTGACC	0.612000													27	60					0	0	0.041601	0	0
AMER3	205147	broad.mit.edu	37	2	131520357	131520357	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:131520357G>T	ENST00000423981.1	+	2	822	c.712G>T	c.(712-714)Gtg>Ttg	p.V238L	AMER3_ENST00000321420.4_Missense_Mutation_p.V238L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GTGTGAGGACGTGGCCTCACT	0.657000													41	52					2.58029e-29	3.94439e-29	0.111260	1	0
LONP2	83752	broad.mit.edu	37	16	48295479	48295479	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr16:48295479T>C	ENST00000285737.4	+	5	961	c.868T>C	c.(868-870)Tgt>Cgt	p.C290R	LONP2_ENST00000535754.1_Missense_Mutation_p.C246R	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	290					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CCATAAAGTCTGTGTCAAAGA	0.338000													52	25					0	0	0.048971	0	0
ITIH5	80760	broad.mit.edu	37	10	7611748	7611748	+	Splice_Site	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr10:7611748C>T	ENST00000256861.6	-	12	2111		c.e12-1		ITIH5_ENST00000446830.2_Splice_Site|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Splice_Site	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCACCATCCACTGCCAGAGCA	0.468000													5	21					0	0	0.014758	0	0
DGKK	139189	broad.mit.edu	37	X	50113550	50113550	+	RNA	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chrX:50113550T>A	ENST00000376025.2	-	0	3671							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					AGATTTTTCCTGAGAAACCAC	0.403000													5	3					0	0	0.014758	0	0
TSHR	7253	broad.mit.edu	37	14	81609890	81609890	+	Silent	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr14:81609890G>A	ENST00000541158.2	+	11	1810	c.1488G>A	c.(1486-1488)acG>acA	p.T496T	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.T496T			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	496					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGTGCAACACGGCTGGTTTCT	0.562000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						25	12					0	0	0.076483	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839371	100839371	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:100839371G>T	ENST00000440203.2	-	6	1025	c.968C>A	c.(967-969)cCa>cAa	p.P323Q	MOGAT3_ENST00000379423.3_Missense_Mutation_p.H227N|MOGAT3_ENST00000223114.4_Silent_p.P294P			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)					GGACGGGGATGGGGCGGCCCA	0.682000													9	9					0.000274275	0.00029256	0.047766	1	0
TSPAN11	441631	broad.mit.edu	37	12	31144811	31144811	+	Silent	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr12:31144811C>A	ENST00000261177.9	+	8	782	c.723C>A	c.(721-723)acC>acA	p.T241T	TSPAN11_ENST00000544427.1_Silent_p.T231T|TSPAN11_ENST00000546076.1_Silent_p.T241T|TSPAN11_ENST00000535215.1_Silent_p.T170T	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	241						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGGTTCTCACCTGCTGCTTGC	0.577000													26	26					9.80776e-20	1.36852e-19	0.030593	1	0
SMG5	23381	broad.mit.edu	37	1	156244463	156244463	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:156244463C>A	ENST00000361813.5	-	5	613	c.469G>T	c.(469-471)Gtg>Ttg	p.V157L	SMG5_ENST00000368267.4_Missense_Mutation_p.V157L	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	157					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GAGGCAGACACTGGCTTCTTG	0.478000													38	75					3.78316e-11	4.58565e-11	0.086207	1	0
C19orf54	284325	broad.mit.edu	37	19	41248552	41248552	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr19:41248552G>A	ENST00000378313.2	-	6	961	c.842C>T	c.(841-843)tCc>tTc	p.S281F	C19orf54_ENST00000598729.1_Missense_Mutation_p.S109F|C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000339153.3_Missense_Mutation_p.S109F	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	281										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGCTCCCGGGGAGCCCTCCTC	0.652000													12	9					0	0	0.080935	0	0
KIF3C	3797	broad.mit.edu	37	2	26204592	26204592	+	Silent	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:26204592A>G	ENST00000264712.3	-	1	774	c.195T>C	c.(193-195)gaT>gaC	p.D65D	KIF3C_ENST00000405914.1_Silent_p.D65D	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	65	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGCTGGCATCATACACGG	0.622000													52	93					0	0	0.048971	0	0
COL4A5	1287	broad.mit.edu	37	X	107846235	107846235	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chrX:107846235C>A	ENST00000328300.6	+	28	2432	c.2188C>A	c.(2188-2190)Cct>Act	p.P730T	COL4A5_ENST00000361603.2_Missense_Mutation_p.P730T	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	730	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACCTGGGACACCTGGAAGAAT	0.443000									Alport syndrome with Diffuse Leiomyomatosis				4	2					1.23904e-05	1.35785e-05	0.014758	1	0
TRIM51	84767	broad.mit.edu	37	11	55655631	55655631	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:55655631C>A	ENST00000449290.2	+	4	723	c.631C>A	c.(631-633)Caa>Aaa	p.Q211K	TRIM51_ENST00000244891.3_Missense_Mutation_p.Q68K	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	211						intracellular	zinc ion binding										CATTTTTCAGCAACTCAATGA	0.443000													5	88					2.27111e-07	2.58325e-07	0.093190	1	0
DDHD1	80821	broad.mit.edu	37	14	53619470	53619470	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr14:53619470G>A	ENST00000357758.3	-	1	530	c.347C>T	c.(346-348)tCg>tTg	p.S116L	DDHD1_ENST00000395606.1_Missense_Mutation_p.S116L|DDHD1_ENST00000323669.5_Missense_Mutation_p.S116L	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	116					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CGGGTGCAGCGACAAGGAGCT	0.701000													9	2					0	0	0.047766	0	0
CPA4	51200	broad.mit.edu	37	7	129948207	129948207	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:129948207C>A	ENST00000222482.4	+	8	791	c.763C>A	c.(763-765)Cca>Aca	p.P255T	CPA4_ENST00000493259.1_Missense_Mutation_p.P151T|CPA4_ENST00000445470.2_Missense_Mutation_p.P222T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	255					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TGGTGCTGACCCAAATAGAAA	0.547000													26	38					4.59853e-10	5.4636e-10	0.108266	1	0
OR8H1	219469	broad.mit.edu	37	11	56058410	56058410	+	Silent	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:56058410C>A	ENST00000313022.2	-	1	156	c.129G>T	c.(127-129)gtG>gtT	p.V43V		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					ATATCATCCCCACATTGCCCA	0.428000													95	210					1.30168e-36	2.02859e-36	0.048971	1	0
GABRG3	2567	broad.mit.edu	37	15	27777965	27777965	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr15:27777965T>C	ENST00000333743.6	+	10	1596	c.1342T>C	c.(1342-1344)Ttt>Ctt	p.F448L	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	448					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CTCCCGGGTCTTTTTCCCCAC	0.473000													3	35					0	0	0.009096	0	0
CARF	79800	broad.mit.edu	37	2	203846375	203846375	+	Silent	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:203846375C>T	ENST00000320443.8	+	14	2699	c.1656C>T	c.(1654-1656)tcC>tcT	p.S552S	CARF_ENST00000545253.1_Silent_p.S464S|CARF_ENST00000545262.1_Silent_p.S476S|CARF_ENST00000438828.2_Silent_p.S552S|WDR12_ENST00000477723.1_Intron|CARF_ENST00000428585.1_Silent_p.S476S|CARF_ENST00000414439.1_Silent_p.S450S|CARF_ENST00000402905.2_Silent_p.S552S					calcium responsive transcription factor																		CCTCACTCTCCTCATTTCAGC	0.413000													36	76					0	0	0.080422	0	0
POTEF	728378	broad.mit.edu	37	2	130877719	130877719	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:130877719C>T	ENST00000357462.5	-	1	463	c.370G>A	c.(370-372)Gat>Aat	p.D124N	POTEF_ENST00000360967.5_Missense_Mutation_p.D124N|POTEF_ENST00000409914.2_Missense_Mutation_p.D124N|POTEF_ENST00000361163.4_Missense_Mutation_p.D124N			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	124						cell cortex	ATP binding	p.D124N(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCACTGTCATCGTAGTCTCCC	0.577000													82	110					0	0	0.048971	0	0
COL4A5	1287	broad.mit.edu	37	X	107930878	107930878	+	Silent	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chrX:107930878T>A	ENST00000328300.6	+	49	4726	c.4482T>A	c.(4480-4482)tcT>tcA	p.S1494S	COL4A5_ENST00000361603.2_Silent_p.S1488S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1488	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AAGGCTTTTCTCTCCTGTATG	0.433000									Alport syndrome with Diffuse Leiomyomatosis				30	103					0	0	0.050027	0	0
TRPS1	7227	broad.mit.edu	37	8	116599310	116599310	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr8:116599310C>A	ENST00000395715.3	-	5	3195	c.2618G>T	c.(2617-2619)gGa>gTa	p.G873V	TRPS1_ENST00000220888.5_Missense_Mutation_p.G860V|TRPS1_ENST00000520276.1_Missense_Mutation_p.G864V|TRPS1_ENST00000519076.1_Missense_Mutation_p.G614V|TRPS1_ENST00000519674.1_Missense_Mutation_p.G860V	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	860					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G860V(1)|p.G873V(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGACTTCTCTCCGCCAGCTGG	0.567000									Langer-Giedion syndrome				39	67					4.00102e-26	5.92743e-26	0.086207	1	0
SLC25A44	9673	broad.mit.edu	37	1	156169858	156169858	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:156169858T>C	ENST00000359511.4	+	2	392	c.220T>C	c.(220-222)Tac>Cac	p.Y74H	SLC25A44_ENST00000423538.2_Missense_Mutation_p.Y74H|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	74					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					CACTGGCCTCTACCGAGGGTT	0.537000													18	37					0	0	0.038395	0	0
KCNH6	81033	broad.mit.edu	37	17	61611300	61611300	+	Silent	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr17:61611300C>T	ENST00000583023.1	+	5	740	c.729C>T	c.(727-729)cgC>cgT	p.R243R	KCNH6_ENST00000580652.1_Silent_p.R243R|KCNH6_ENST00000314672.5_Silent_p.R243R|KCNH6_ENST00000581784.1_Silent_p.R243R|KCNH6_ENST00000456941.2_Silent_p.R243R	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	243					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGGCGCCGCGCATCCACCGCT	0.672000													61	47					0	0	0.048971	0	0
COL6A2	1292	broad.mit.edu	37	21	47535957	47535957	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr21:47535957C>G	ENST00000300527.4	+	7	994	c.890C>G	c.(889-891)cCa>cGa	p.P297R	COL6A2_ENST00000357838.4_Missense_Mutation_p.P297R|COL6A2_ENST00000310645.5_Missense_Mutation_p.P297R|COL6A2_ENST00000409416.1_Missense_Mutation_p.P297R|COL6A2_ENST00000397763.1_Missense_Mutation_p.P297R	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	297	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ATTGGATTCCCAGGACCCAAG	0.711000													4	6					0	0	0.009096	0	0
KCNE1	3753	broad.mit.edu	37	21	35821633	35821633	+	Silent	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr21:35821633C>A	ENST00000337385.3	-	3	675	c.300G>T	c.(298-300)ctG>ctT	p.L100L	KCNE1_ENST00000416357.2_Silent_p.L100L|KCNE1_ENST00000399286.2_Silent_p.L100L|KCNE1_ENST00000432085.1_Silent_p.L100L|KCNE1_ENST00000399289.3_Silent_p.L100L|KCNE1_ENST00000399284.1_Silent_p.L100L	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	100					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	TGTAGCTCTCCAGGACCCGGG	0.557000													63	120					7.41606e-26	1.09193e-25	0.048971	1	0
ACTRT2	140625	broad.mit.edu	37	1	2939246	2939246	+	Silent	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:2939246G>T	ENST00000378404.2	+	1	1201	c.996G>T	c.(994-996)acG>acT	p.T332T		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	332						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)		TCAAGATCACGGCTCCCCCCG	0.617000													63	96					1.08141e-31	1.67443e-31	0.048971	1	0
ATP1B4	23439	broad.mit.edu	37	X	119500506	119500506	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chrX:119500506G>A	ENST00000218008.3	+	2	247	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ATP1B4_ENST00000539306.1_Missense_Mutation_p.E64K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.E64K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	64	Glu-rich.				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						agaagaggaggaagaggagga	0.527000													34	6					0	0	0.050027	0	0
NDST4	64579	broad.mit.edu	37	4	115760697	115760697	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr4:115760697C>A	ENST00000264363.2	-	11	2801	c.2123G>T	c.(2122-2124)cGa>cTa	p.R708L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	708	Heparan sulfate N-sulfotransferase 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)		TTCATGTGATCGTTGGTGCTT	0.378000													31	20					4.74835e-14	6.12691e-14	0.045705	1	0
MYH11	4629	broad.mit.edu	37	16	15815294	15815294	+	Silent	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr16:15815294A>G	ENST00000338282.6	-	32	4669	c.4563T>C	c.(4561-4563)gaT>gaC	p.D1521D	MYH11_ENST00000576790.1_Silent_p.D1521D|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000396324.3_Silent_p.D1528D|MYH11_ENST00000300036.5_Silent_p.D1521D|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000452625.2_Silent_p.D1528D	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1521					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGCCCACGTCATCCTTGGAGC	0.557000			T	CBFB	AML								30	60					0	0	0.054565	0	0
CDH10	1008	broad.mit.edu	37	5	24511448	24511448	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:24511448G>C	ENST00000264463.4	-	6	1497	c.990C>G	c.(988-990)atC>atG	p.I330M		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	330	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTTCACAGTGATGATGCCTT	0.413000										HNSCC(23;0.051)			58	152					0	0	0.048971	0	0
PSG3	5671	broad.mit.edu	37	19	43233396	43233396	+	Silent	SNP	T	T	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr19:43233396T>G	ENST00000327495.5	-	5	1306	c.1122A>C	c.(1120-1122)ctA>ctC	p.L374L	PSG3_ENST00000595140.1_Silent_p.L374L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	374	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTTGTCCTGATAGCTGAAACT	0.453000													154	127					0	0	0.048971	0	0
NUF2	83540	broad.mit.edu	37	1	163315595	163315595	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:163315595G>T	ENST00000271452.3	+	11	1214	c.935G>T	c.(934-936)aGt>aTt	p.S312I	NUF2_ENST00000524800.1_Intron|NUF2_ENST00000367900.3_Missense_Mutation_p.S312I	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	312	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAATTAGCCAGTATCTTAAAG	0.328000													22	83					1.64113e-05	1.79033e-05	0.055883	1	0
OR8D2	283160	broad.mit.edu	37	11	124189725	124189725	+	Silent	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:124189725A>G	ENST00000357438.2	-	1	459	c.369T>C	c.(367-369)taT>taC	p.Y123Y		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGATAGCAACATAACGGTCAT	0.418000													23	52					0	0	0.069288	0	0
MUC16	94025	broad.mit.edu	37	19	9085453	9085453	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr19:9085453A>C	ENST00000397910.4	-	1	6565	c.6362T>G	c.(6361-6363)tTg>tGg	p.L2121W		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2121	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCAGTGTTCAAAGTACTCGC	0.483000													76	51					0	0	0.048971	0	0
ATG9A	79065	broad.mit.edu	37	2	220087499	220087499	+	Silent	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:220087499C>T	ENST00000409618.1	-	11	2155	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	ATG9A_ENST00000396761.2_Silent_p.E572E|ATG9A_ENST00000409422.1_Silent_p.E511E|ATG9A_ENST00000361242.4_Silent_p.E572E			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	572					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCTGTGCTCTCACGTGGTG	0.572000													37	90					0	0	0.074837	0	0
CCDC88A	55704	broad.mit.edu	37	2	55523591	55523591	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:55523591G>T	ENST00000436346.1	-	30	5735	c.4894C>A	c.(4894-4896)Cat>Aat	p.H1632N	CCDC88A_ENST00000263630.8_Missense_Mutation_p.H1604N|CCDC88A_ENST00000422883.2_Missense_Mutation_p.H133N|CCDC88A_ENST00000413716.2_Missense_Mutation_p.H1631N|CCDC88A_ENST00000336838.6_Missense_Mutation_p.H1631N	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1632					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CAAGCCTCATGGTCATGAAGC	0.468000													31	44					1.7881e-09	2.11401e-09	0.037714	1	0
SSTR5	6755	broad.mit.edu	37	16	1129350	1129350	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr16:1129350C>A	ENST00000293897.4	+	1	570	c.482C>A	c.(481-483)gCc>gAc	p.A161D	SSTR5_ENST00000397547.2_Missense_Mutation_p.A161D|SSTR5_ENST00000562758.1_Missense_Mutation_p.A161D	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	161					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CTGGCGAGCGCCGCGGCCTGG	0.711000													4	14					0.000602214	0.000636702	0.014758	1	0
SNAI2	6591	broad.mit.edu	37	8	49832880	49832880	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr8:49832880G>T	ENST00000396822.1	-	3	557	c.200C>A	c.(199-201)gCc>gAc	p.A67D	SNAI2_ENST00000020945.1_Missense_Mutation_p.A67D			O43623	SNAI2_HUMAN	snail family zinc finger 2	67					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GGGTAGCTGGGCGTGGAATGG	0.557000													55	123					2.29192e-23	3.27417e-23	0.048971	1	0
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCC	0.557000		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)			22	23					0	0	0.069288	0	0
FLG2	388698	broad.mit.edu	37	1	152329873	152329873	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:152329873C>T	ENST00000388718.5	-	3	461	c.389G>A	c.(388-390)aGa>aAa	p.R130K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	130							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTGAATGTCTGTAACCTGA	0.478000													84	181					0	0	0.048971	0	0
HOXD12	3238	broad.mit.edu	37	2	176964708	176964708	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:176964708C>A	ENST00000406506.2	+	1	251	c.179C>A	c.(178-180)cCc>cAc	p.P60H	HOXD12_ENST00000404162.2_Missense_Mutation_p.P60H			P35452	HXD12_HUMAN	homeobox D12	60						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TCCTGCGCCCCCGCGCAGCCT	0.746000													9	18					1.08611e-07	1.2532e-07	0.080935	1	0
TONSL	4796	broad.mit.edu	37	8	145659566	145659566	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr8:145659566G>A	ENST00000409379.3	-	21	3211	c.3182C>T	c.(3181-3183)cCc>cTc	p.P1061L		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1061					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCGCAGCAGGGGTGTAAGCTG	0.697000													8	12					0	0	0.058154	0	0
HOXA10	3206	broad.mit.edu	37	7	27213851	27213851	+	Silent	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:27213851G>T	ENST00000283921.4	-	1	74	c.75C>A	c.(73-75)gcC>gcA	p.A25A	RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	25					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						AAGAGTTCGCGGCGGGGCTCT	0.602000													51	34					1.59911e-31	2.46017e-31	0.048971	1	0
TPST1	8460	broad.mit.edu	37	7	65705740	65705740	+	Silent	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:65705740C>T	ENST00000304842.5	+	2	753	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	110					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AATCCTGGCCCTGAAGCAGAT	0.542000													11	62					0	0	0.080935	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43818090	43818090	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr9:43818090G>A	ENST00000377564.3	+	7	1370	c.977G>A	c.(976-978)cGt>cAt	p.R326H	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.R326H	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	326	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GCATTCACACGTAAAAGCTTT	0.378000													14	67					0	0	0.055883	0	0
SCRT1	83482	broad.mit.edu	37	8	145557006	145557006	+	Silent	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr8:145557006C>T	ENST00000332135.4	-	2	999	c.888G>A	c.(886-888)caG>caA	p.Q296Q		NM_031309.4	NP_112599.1	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	296						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCGAATGCGTCTGCATGTGCG	0.627000													9	16					0	0	0.058154	0	0
TNP1	7141	broad.mit.edu	37	2	217724654	217724654	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:217724654T>A	ENST00000236979.2	-	1	133	c.104A>T	c.(103-105)aAg>aTg	p.K35M	AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	35					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGTTGCCCTTACGGTATTT	0.532000													39	111					0	0	0.104719	0	0
JPH3	57338	broad.mit.edu	37	16	87678279	87678279	+	Silent	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr16:87678279G>T	ENST00000284262.2	+	2	1040	c.798G>T	c.(796-798)ctG>ctT	p.L266L		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	266					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCATCAGCCTGGGCGAGGCTG	0.662000													5	65					0.00116845	0.00122994	0.021553	1	0
NFAT5	10725	broad.mit.edu	37	16	69726354	69726354	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr16:69726354G>C	ENST00000349945.1	+	14	3896	c.2344G>C	c.(2344-2346)Gat>Cat	p.D782H	NFAT5_ENST00000567239.1_Missense_Mutation_p.D875H|NFAT5_ENST00000354436.2_Missense_Mutation_p.D858H|NFAT5_ENST00000432919.1_Missense_Mutation_p.D876H|NFAT5_ENST00000393742.2_Missense_Mutation_p.D782H|NFAT5_ENST00000566899.1_Missense_Mutation_p.D782H	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	858					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TACCAGACCAGATAATTTATT	0.433000													63	46					0	0	0.048971	0	0
REPIN1	29803	broad.mit.edu	37	7	150069074	150069074	+	Silent	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:150069074G>A	ENST00000397281.2	+	4	1233	c.744G>A	c.(742-744)aaG>aaA	p.K248K	REPIN1_ENST00000479668.1_3'UTR|RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Silent_p.K305K|REPIN1_ENST00000425389.2_Silent_p.K248K|REPIN1_ENST00000444957.1_Silent_p.K248K|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000540729.1_Silent_p.K248K	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	248					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCCGGCACAAGCCCAACTTGA	0.701000													27	32					0	0	0.041601	0	0
OR4E2	26686	broad.mit.edu	37	14	22133543	22133543	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr14:22133543G>T	ENST00000408935.1	+	1	247	c.247G>T	c.(247-249)Gag>Tag	p.E83*		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TAAGATGTTGGAGGGTTTGCT	0.438000													143	119					1.0049e-60	1.62957e-60	0.048971	1	0
PDZD8	118987	broad.mit.edu	37	10	119078424	119078424	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr10:119078424T>G	ENST00000334464.5	-	3	1296	c.1057A>C	c.(1057-1059)Agt>Cgt	p.S353R		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	353					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CAAACACTACTGCTTAACTCA	0.338000													14	53					0	0	0.028581	0	0
SLFN11	91607	broad.mit.edu	37	17	33679953	33679953	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr17:33679953A>C	ENST00000394566.1	-	7	2400	c.2128T>G	c.(2128-2130)Ttg>Gtg	p.L710V	SLFN11_ENST00000308377.4_Missense_Mutation_p.L710V	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	710						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGCAATCCAAGTGGCTGGTC	0.483000													25	134					0	0	0.083992	0	0
CCKAR	886	broad.mit.edu	37	4	26483656	26483656	+	Silent	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr4:26483656C>A	ENST00000295589.3	-	5	1085	c.891G>T	c.(889-891)cgG>cgT	p.R297R		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	297					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGCTGTTACTCCGGATGCGGT	0.602000													56	101					5.22555e-25	7.60081e-25	0.048971	1	0
DAB1	1600	broad.mit.edu	37	1	57480898	57480898	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:57480898G>T	ENST00000371236.2	-	12	1365	c.1102C>A	c.(1102-1104)Ccc>Acc	p.P368T	DAB1_ENST00000371231.1_Missense_Mutation_p.P401T|DAB1_ENST00000371234.4_Missense_Mutation_p.P368T|DAB1_ENST00000414851.2_Missense_Mutation_p.P350T|DAB1_ENST00000420954.2_Missense_Mutation_p.P366T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Missense_Mutation_p.P282T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	401				G -> R (in Ref. 2; AAF73058).	cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTTTGTGTGGGCATGAAGGCG	0.647000													39	83					1.03484e-13	1.32813e-13	0.080422	1	0
DNAJC5B	85479	broad.mit.edu	37	8	67012241	67012241	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr8:67012241C>G	ENST00000276570.5	+	6	862	c.575C>G	c.(574-576)tCt>tGt	p.S192C	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	192					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAAGAAGGATCTCGAAGTTAT	0.428000													12	35					0	0	0.093190	0	0
IFT88	8100	broad.mit.edu	37	13	21199956	21199956	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr13:21199956G>C	ENST00000382778.4	+	16	2412	c.1294G>C	c.(1294-1296)Gtt>Ctt	p.V432L	IFT88_ENST00000319980.6_Missense_Mutation_p.V432L|IFT88_ENST00000537103.1_Missense_Mutation_p.V404L|IFT88_ENST00000461115.1_3'UTR|IFT88_ENST00000351808.5_Missense_Mutation_p.V423L			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	432					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAACAAAGCAGTTACATACTT	0.318000													24	10					0	0	0.091800	0	0
OR2M7	391196	broad.mit.edu	37	1	248487522	248487522	+	Missense_Mutation	SNP	C	C	A	rs140426612		TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:248487522C>A	ENST00000317965.2	-	1	377	c.349G>T	c.(349-351)Gtt>Ttt	p.V117F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGACATAACAGCCAACAGA	0.443000													158	254					4.22877e-48	6.81145e-48	0.048971	1	0
NETO1	81832	broad.mit.edu	37	18	70423324	70423324	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr18:70423324C>G	ENST00000327305.6	-	8	1584	c.927G>C	c.(925-927)ttG>ttC	p.L309F	NETO1_ENST00000299430.2_Missense_Mutation_p.L308F|NETO1_ENST00000583169.1_Missense_Mutation_p.L309F	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	309	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CATTGCAGACCAAAGTATTAT	0.368000													27	36					0	0	0.037714	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874246	31874246	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr21:31874246A>G	ENST00000334151.2	-	1	189	c.163T>C	c.(163-165)Tac>Cac	p.Y55H		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	55						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CAGCTGCGGTATCCATAGCCT	0.532000													59	164					0	0	0.048971	0	0
MYH2	4620	broad.mit.edu	37	17	10443940	10443940	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr17:10443940C>A	ENST00000245503.5	-	11	1363	c.979G>T	c.(979-981)Gat>Tat	p.D327Y	MYH2_ENST00000397183.2_Missense_Mutation_p.D327Y|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.D327Y	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	327	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTGATCATCGATGCTGGCC	0.403000													29	16					1.39806e-14	1.82355e-14	0.037714	1	0
KLF4	9314	broad.mit.edu	37	9	110248154	110248154	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr9:110248154A>C	ENST00000374672.4	-	5	1791	c.1318T>G	c.(1318-1320)Tca>Gca	p.S440A		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	474					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						AGTTCATCTGAGCGGGCGAAT	0.498000													17	86					0	0	0.038395	0	0
DNAH7	56171	broad.mit.edu	37	2	196750928	196750928	+	Silent	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:196750928A>G	ENST00000312428.6	-	34	5575	c.5475T>C	c.(5473-5475)gaT>gaC	p.D1825D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1825					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGCAAAATCATCCATAAAAC	0.373000													20	66					0	0	0.055883	0	0
RANBP17	64901	broad.mit.edu	37	5	170667972	170667972	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:170667972G>T	ENST00000523189.1	+	23	2627	c.2463G>T	c.(2461-2463)caG>caT	p.Q821H	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	821					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAAAGATCAGATTTATCCAA	0.413000			T	TRD@	ALL								79	65					3.00167e-28	4.5595e-28	0.048971	1	0
SATB2	23314	broad.mit.edu	37	2	200137136	200137136	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:200137136C>A	ENST00000443023.1	-	10	3288	c.1823G>T	c.(1822-1824)cGg>cTg	p.R608L	SATB2_ENST00000457245.1_Missense_Mutation_p.R667L|SATB2_ENST00000417098.1_Missense_Mutation_p.R667L|SATB2_ENST00000260926.5_Missense_Mutation_p.R667L|SATB2_ENST00000428695.1_Missense_Mutation_p.R549L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	667						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.R667L(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CACGTGGTACCGCTGGTTCTG	0.567000													27	88					1.38854e-25	2.03201e-25	0.037714	1	0
ZBTB41	360023	broad.mit.edu	37	1	197141290	197141290	+	Splice_Site	SNP	C	C	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:197141290C>G	ENST00000367405.4	-	9	2142	c.2074_splice	c.e9+1	p.G692_splice	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TAAATTTTACCTGAATGCGTT	0.264000													5	4					0	0	0.047766	0	0
ASTN2	23245	broad.mit.edu	37	9	119188208	119188208	+	Silent	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr9:119188208G>T	ENST00000313400.4	-	23	4042	c.3942C>A	c.(3940-3942)ctC>ctA	p.L1314L	ASTN2_ENST00000361477.3_Silent_p.L366L|ASTN2_ENST00000361209.2_Silent_p.L1263L|ASTN2_ENST00000288520.5_Silent_p.L415L|ASTN2_ENST00000373996.3_Silent_p.L1310L|ASTN2_ENST00000341734.4_Silent_p.L366L			O75129	ASTN2_HUMAN	astrotactin 2	1314						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGGTGTCCTTGAGGATGCTAT	0.587000													17	37					3.52763e-06	3.91959e-06	0.033300	1	0
STC2	8614	broad.mit.edu	37	5	172755169	172755169	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:172755169T>C	ENST00000265087.4	-	1	1337	c.28A>G	c.(28-30)Atg>Gtg	p.M10V		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	10					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCCAGGGTCATGAACTGGCCC	0.627000													54	37					0	0	0.048971	0	0
NBEA	26960	broad.mit.edu	37	13	35751179	35751179	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr13:35751179C>A	ENST00000540320.1	+	28	5135	c.4601C>A	c.(4600-4602)cCg>cAg	p.P1534Q	NBEA_ENST00000400445.3_Missense_Mutation_p.P1534Q|NBEA_ENST00000310336.4_Missense_Mutation_p.P1534Q|NBEA_ENST00000379939.2_Missense_Mutation_p.P1531Q			Q8NFP9	NBEA_HUMAN	neurobeachin	1534						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.P1534L(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTAAGGATCCGGATAGACTT	0.348000													11	4					1.61879e-10	1.93289e-10	0.093190	1	0
EDIL3	10085	broad.mit.edu	37	5	83259126	83259126	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:83259126T>G	ENST00000296591.5	-	10	1609	c.1191A>C	c.(1189-1191)aaA>aaC	p.K397N	EDIL3_ENST00000380138.3_Missense_Mutation_p.K387N	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	397	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GACCAAAATCTTTAGCTCCTT	0.383000													13	44					0	0	0.093190	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749274	79749274	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr15:79749274A>C	ENST00000305428.3	+	2	860	c.785A>C	c.(784-786)gAg>gCg	p.E262A		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	262						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						ATCTTCAAAGAGGATTTTCAC	0.498000													14	74					0	0	0.020292	0	0
ATG2B	55102	broad.mit.edu	37	14	96792136	96792136	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr14:96792136A>G	ENST00000359933.4	-	15	3180	c.2287T>C	c.(2287-2289)Tct>Cct	p.S763P		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	763										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCTTGATCAGATCGAAGATCA	0.393000													45	36					0	0	0.045515	0	0
WNT4	54361	broad.mit.edu	37	1	22456296	22456296	+	Silent	SNP	C	C	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:22456296C>G	ENST00000290167.6	-	2	169	c.126G>C	c.(124-126)acG>acC	p.T42T	WNT4_ENST00000542383.1_5'UTR	NM_030761.4	NP_110388.2	P56705	WNT4_HUMAN	wingless-type MMTV integration site family, member 4	42					adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|extracellular space|Golgi apparatus|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GTTTCTCGCACGTCTCCTCCT	0.622000													62	135					0	0	0.048971	0	0
OPTN	10133	broad.mit.edu	37	10	13154608	13154608	+	Silent	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr10:13154608A>G	ENST00000378748.3	+	6	887	c.525A>G	c.(523-525)gaA>gaG	p.E175E	OPTN_ENST00000378752.3_Silent_p.E175E|OPTN_ENST00000263036.5_Silent_p.E175E|OPTN_ENST00000378747.3_Silent_p.E175E|OPTN_ENST00000378757.2_Silent_p.E175E|OPTN_ENST00000378764.2_Silent_p.E175E|OPTN_ENST00000482140.1_3'UTR	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	175	Interaction with Rab8.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GCTCCTCAGAAGATTCCTTTG	0.463000													52	81					0	0	0.048971	0	0
NOBOX	135935	broad.mit.edu	37	7	144098578	144098578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:144098578G>T	ENST00000467773.1	-	4	404	c.405C>A	c.(403-405)tgC>tgA	p.C135*	NOBOX_ENST00000483238.1_Nonsense_Mutation_p.C135*|NOBOX_ENST00000223140.5_Nonsense_Mutation_p.C50*	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	135					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTGAGATGGTGCAGGAGGGTG	0.667000													27	38					3.73148e-12	4.56916e-12	0.034045	1	0
MAPK8IP1	9479	broad.mit.edu	37	11	45925566	45925566	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:45925566T>G	ENST00000395629.2	+	7	1820	c.1490T>G	c.(1489-1491)cTt>cGt	p.L497R	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.L507R			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	507	SH3.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GAAGACGAACTTGAGCTGGAA	0.587000													10	139					0	0	0.080935	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740869	37740869	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr9:37740869G>T	ENST00000539465.1	+	15	2937	c.2344G>T	c.(2344-2346)Ggc>Tgc	p.G782C	FRMPD1_ENST00000541302.1_Missense_Mutation_p.G651C|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.G604C|FRMPD1_ENST00000377765.3_Missense_Mutation_p.G782C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	782						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CACTCCCCCAGGCCCCCCGTC	0.632000													18	14					3.51602e-12	4.3274e-12	0.049695	1	0
FAM50B	26240	broad.mit.edu	37	6	3850329	3850329	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr6:3850329A>G	ENST00000380274.1	+	1	710	c.284A>G	c.(283-285)gAg>gGg	p.E95G	FAM50B_ENST00000380272.3_Missense_Mutation_p.E95G			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	95						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CAGCACCTGGAGGagcagcgg	0.682000													9	3					0	0	0.047766	0	0
NRCAM	4897	broad.mit.edu	37	7	107808783	107808783	+	Silent	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:107808783G>A	ENST00000379028.3	-	29	3722	c.3252C>T	c.(3250-3252)atC>atT	p.I1084I	NRCAM_ENST00000425651.2_Silent_p.I1084I|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379022.4_Silent_p.I1084I|NRCAM_ENST00000351718.4_Intron			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1084	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATTCCCAACTGATATTGGCAT	0.378000													23	33					0	0	0.076483	0	0
LRPAP1	4043	broad.mit.edu	37	4	3521828	3521828	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr4:3521828C>A	ENST00000500728.2	-	3	588	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	148					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		AGCCTGGGGTCATCCAGCCCG	0.552000													17	67					5.35267e-07	6.03117e-07	0.043863	1	0
TMPRSS13	84000	broad.mit.edu	37	11	117789384	117789384	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:117789384G>A	ENST00000528626.1	-	2	264	c.191C>T	c.(190-192)aCa>aTa	p.T64I	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.T64I|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.T64I|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.T64I|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.T64I	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	64	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCCTGGAGGTGTACCAGCTGG	0.687000													26	46					0	0	0.034045	0	0
CAMK1G	57172	broad.mit.edu	37	1	209782371	209782371	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:209782371T>C	ENST00000009105.1	+	8	927	c.682T>C	c.(682-684)Ttc>Ctc	p.F228L	CAMK1G_ENST00000361322.2_Missense_Mutation_p.F228L|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	228	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GTCTAAGCTTTTCGAGAAGAT	0.493000													72	112					0	0	0.048971	0	0
ZFHX4	79776	broad.mit.edu	37	8	77619930	77619930	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr8:77619930T>A	ENST00000521891.2	+	3	3188	c.2740T>A	c.(2740-2742)Tct>Act	p.S914T	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S888T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S888T|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S888T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	888						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAAATTCACCTCTGACAGCCT	0.522000										HNSCC(33;0.089)			15	33					0	0	0.038395	0	0
CFC1	55997	broad.mit.edu	37	2	131356257	131356257	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:131356257C>A	ENST00000259216.4	-	3	467	c.205G>T	c.(205-207)Ggg>Tgg	p.G69W		NM_032545.3	NP_115934.1	P0CG37	CFC1_HUMAN	cripto, FRL-1, cryptic family 1	69					determination of left/right symmetry|gastrulation	anchored to membrane|extracellular region|plasma membrane				endometrium(1)|lung(4)	5	Colorectal(110;0.1)					TCCTCCGGCCCCCAGCCCTCG	0.627000													16	89					2.21704e-12	2.75693e-12	0.076483	1	0
FAM129B	64855	broad.mit.edu	37	9	130285969	130285969	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr9:130285969T>C	ENST00000373312.3	-	5	791	c.578A>G	c.(577-579)cAc>cGc	p.H193R	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.H180R	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	193							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ATTGTTGCAGTGCCGGATGCA	0.577000											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	44					0	0	0.069234	0	0
STK11	6794	broad.mit.edu	37	19	1221211	1221211	+	Splice_Site	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr19:1221211G>T	ENST00000326873.7	+	6	1907		c.e6-1			NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGAAATGAAGCTACAACATC	0.587000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			9	10					6.42651e-13	8.1177e-13	0.080935	1	0
PANK3	79646	broad.mit.edu	37	5	167995679	167995679	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:167995679G>C	ENST00000239231.6	-	2	669	c.353C>G	c.(352-354)gCt>gGt	p.A118G		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	118					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		AAACTTGTAAGCACCACCTCC	0.383000													58	50					0	0	0.048971	0	0
OR14K1	343170	broad.mit.edu	37	1	247902414	247902414	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:247902414T>G	ENST00000283225.2	+	1	498	c.498T>G	c.(496-498)ttT>ttG	p.F166L	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CTCTGAATTTTTATGGCTCTG	0.488000													34	178					0	0	0.069456	0	0
DAB2	1601	broad.mit.edu	37	5	39377150	39377150	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:39377150G>A	ENST00000545653.1	-	11	2206	c.1676C>T	c.(1675-1677)gCa>gTa	p.A559V	DAB2_ENST00000320816.6_Missense_Mutation_p.A580V|DAB2_ENST00000339788.6_Missense_Mutation_p.A362V|DAB2_ENST00000509337.1_Missense_Mutation_p.A559V	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	580					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGCATTGGGTGCCACAGATGC	0.547000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	80					0	0	0.048971	0	0
HNRNPLL	92906	broad.mit.edu	37	2	38809125	38809125	+	Silent	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:38809125T>A	ENST00000449105.2	-	6	1071	c.732A>T	c.(730-732)ccA>ccT	p.P244P	HNRNPLL_ENST00000358367.4_Silent_p.P244P|HNRNPLL_ENST00000409328.1_Intron|HNRNPLL_ENST00000409636.1_Silent_p.P239P|HNRNPLL_ENST00000378915.3_Silent_p.P210P|HNRNPLL_ENST00000410076.1_Silent_p.P239P	NM_138394.3	NP_612403.2			heterogeneous nuclear ribonucleoprotein L-like																		TTAGACGAGTTGGCTGTTAAG	0.328000													16	37					0	0	0.033300	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035866	110035866	+	Silent	SNP	A	A	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:110035866A>C	ENST00000453089.2	+	5	2844	c.1963A>C	c.(1963-1965)Aga>Cga	p.R655R	ZC3H12C_ENST00000528673.1_Silent_p.R687R|ZC3H12C_ENST00000278590.3_Silent_p.R686R			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	686							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CCCCTTAACCAGAGGGCAAAG	0.562000													64	258					0	0	0.048971	0	0
ILDR2	387597	broad.mit.edu	37	1	166890569	166890569	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:166890569G>T	ENST00000271417.3	-	9	1314	c.1259C>A	c.(1258-1260)aCg>aAg	p.T420K	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.T293K|ILDR2_ENST00000529071.1_Missense_Mutation_p.T401K|ILDR2_ENST00000528703.1_Missense_Mutation_p.T361K|ILDR2_ENST00000526687.1_Missense_Mutation_p.T312K	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	420						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CGGCACCCCCGTGGCGAAGTT	0.716000													13	18					4.93089e-13	6.29475e-13	0.020292	1	0
GLI2	2736	broad.mit.edu	37	2	121726411	121726411	+	Silent	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:121726411G>T	ENST00000452319.1	+	6	825	c.765G>T	c.(763-765)tcG>tcT	p.S255S	GLI2_ENST00000361492.4_Silent_p.S255S|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	255					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CACCCAACTCGCTAGTGGCCT	0.672000													25	57					5.35356e-11	6.45655e-11	0.076483	1	0
OR9A4	130075	broad.mit.edu	37	7	141619370	141619370	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:141619370C>T	ENST00000548136.1	+	1	754	c.695C>T	c.(694-696)tCt>tTt	p.S232F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCGTCATCCTCTGGCCGGAGG	0.483000													23	123					0	0	0.062417	0	0
CAMK4	814	broad.mit.edu	37	5	110819995	110819995	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:110819995C>A	ENST00000282356.4	+	11	1651	c.1253C>A	c.(1252-1254)cCc>cAc	p.P418H	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.P418H	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	418					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		AAAATGGTGCCCAAGGCAGTG	0.547000													29	15					9.65021e-13	1.21259e-12	0.045705	1	0
TRPC6	7225	broad.mit.edu	37	11	101454093	101454093	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:101454093G>C	ENST00000344327.3	-	1	566	c.142C>G	c.(142-144)Ctg>Gtg	p.L48V	TRPC6_ENST00000348423.4_Missense_Mutation_p.L48V|TRPC6_ENST00000532133.1_Missense_Mutation_p.L48V|TRPC6_ENST00000360497.4_Missense_Mutation_p.L48V|TRPC6_ENST00000526713.1_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	48					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TAGCAAGGCAGCGGGGCTTGC	0.721000													6	9					0	0	0.047766	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061734	103061734	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:103061734G>T	ENST00000264260.2	+	9	1595	c.1006G>T	c.(1006-1008)Gtt>Ttt	p.V336F	IL18RAP_ENST00000409369.1_Missense_Mutation_p.V194F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	336	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAGGAAGTTTGTTTGCTTTGT	0.428000													23	45					1.36565e-18	1.88365e-18	0.076483	1	0
SERPINA13P	388007	broad.mit.edu	37	14	95108087	95108087	+	RNA	SNP	C	C	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr14:95108087C>G	ENST00000469935.1	+	0	692					NR_015340.1																						GTTCAGCGGCCTGGGCGCGAG	0.627000													58	34					0	0	0.048971	0	0
SLC34A1	6569	broad.mit.edu	37	5	176825246	176825246	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:176825246C>A	ENST00000324417.5	+	13	1970	c.1879C>A	c.(1879-1881)Cgt>Agt	p.R627S	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	627					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCCTCCCCCCGTCTTGCACT	0.692000													23	6					2.70639e-06	3.02109e-06	0.069288	1	0
MIR411	693121	broad.mit.edu	37	14	101489695	101489695	+	RNA	SNP	A	A	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr14:101489695A>T	ENST00000362239.2	+	0	34					NR_030389.1																						CGTATAGCGTACGCTTTATCT	0.527000													28	13					0	0	0.037714	0	0
ZNF451	26036	broad.mit.edu	37	6	56989619	56989619	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr6:56989619G>A	ENST00000370706.4	+	4	518	c.274G>A	c.(274-276)Gag>Aag	p.E92K	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.E92K|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000370711.5_3'UTR|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.E92K|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	92					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)			TGTTGAAGTGGAGAAACAGCA	0.303000													7	19					0	0	0.058154	0	0
XG	7499	broad.mit.edu	37	X	2729460	2729460	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chrX:2729460C>G	ENST00000426774.1	+	9	719	c.496C>G	c.(496-498)Cta>Gta	p.L166V	XG_ENST00000381174.5_Missense_Mutation_p.L165V|XG_ENST00000419513.2_Missense_Mutation_p.L180V	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	165						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTATTTCAAACTAAACAATAG	0.403000													7	5					0	0	0.038147	0	0
ZNF451	26036	broad.mit.edu	37	6	56989634	56989634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr6:56989634G>T	ENST00000370706.4	+	4	533	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.E97*|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000370711.5_3'UTR|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.E97*|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	97					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)			ACAGCAGAAAGAAGAGAAGAA	0.303000													7	17					0.00448238	0.00467727	0.047766	1	0
FAM49A	81553	broad.mit.edu	37	2	16736390	16736390	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:16736390T>G	ENST00000381323.3	-	11	1075	c.855A>C	c.(853-855)aaA>aaC	p.K285N	FAM49A_ENST00000406434.1_Missense_Mutation_p.K285N|FAM49A_ENST00000355549.2_Missense_Mutation_p.K285N	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	285						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CCTTCAAAACTTTTATGCAGC	0.458000													5	24					0	0	0.029380	0	0
MIR379	494328	broad.mit.edu	37	14	101488424	101488424	+	RNA	SNP	G	G	T	rs72631818		TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr14:101488424G>T	ENST00000362218.3	+	0	59					NR_029871.1																						ACTATGGAACGTAGGCGTTAT	0.512000													26	20					1.42536e-11	1.73647e-11	0.099896	1	0
OR51D1	390038	broad.mit.edu	37	11	4661574	4661574	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:4661574A>G	ENST00000357605.2	+	1	630	c.554A>G	c.(553-555)cAt>cGt	p.H185R		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCAAACACATACTGTCACA	0.478000													71	52					0	0	0.048971	0	0
TRIM22	10346	broad.mit.edu	37	11	5719619	5719619	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:5719619G>T	ENST00000379965.3	+	4	871	c.594G>T	c.(592-594)gaG>gaT	p.E198D	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	198					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)		ACAATGAGGAGCAGAGAGAGC	0.483000													29	30					1.39806e-14	1.82355e-14	0.037714	1	0
KIRREL3	84623	broad.mit.edu	37	11	126306850	126306850	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:126306850C>A	ENST00000525144.2	-	12	1657	c.1408G>T	c.(1408-1410)Gtg>Ttg	p.V470L	KIRREL3_ENST00000525704.2_Missense_Mutation_p.V470L|KIRREL3_ENST00000529097.2_Missense_Mutation_p.V470L|KIRREL3_ENST00000416561.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	470	Ig-like C2-type 5.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		ATGGTCTCCACCGTATAGCGC	0.642000													7	13					2.7689e-08	3.21031e-08	0.029380	1	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976906	29976906	+	RNA	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr6:29976906C>T	ENST00000376797.3	-	0	773				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							TCTCACAGGACGTTTTCTTCC	0.507000													34	43					0	0	0.064281	0	0
DAB2	1601	broad.mit.edu	37	5	39383033	39383033	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:39383033A>G	ENST00000545653.1	-	9	1495	c.965T>C	c.(964-966)tTt>tCt	p.F322S	DAB2_ENST00000320816.6_Missense_Mutation_p.F343S|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.F322S	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	343					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGCTGACCAAAGTAGTCAAC	0.493000													6	115					0	0	0.021553	0	0
MS4A3	932	broad.mit.edu	37	11	59834462	59834462	+	Silent	SNP	A	A	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:59834462A>T	ENST00000278865.3	+	5	463	c.390A>T	c.(388-390)acA>acT	p.T130T	MS4A3_ENST00000358152.2_Silent_p.T84T|MS4A3_ENST00000534744.1_Silent_p.T84T|MS4A3_ENST00000395032.2_Silent_p.T7T	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	130						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCAGTGCTACAATTGCACTAG	0.373000													20	17					0	0	0.069288	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28733879	28733879	+	RNA	SNP	T	T	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr14:28733879T>G	ENST00000550043.1	+	0	284																											CTATTTATAATGGTGACATGG	0.527000													40	26					0	0	0.111260	0	0
DPP8	54878	broad.mit.edu	37	15	65782569	65782569	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr15:65782569C>G	ENST00000341861.5	-	6	2412	c.832G>C	c.(832-834)Gat>Cat	p.D278H	DPP8_ENST00000321118.7_Missense_Mutation_p.D278H|DPP8_ENST00000358939.4_Missense_Mutation_p.D262H|DPP8_ENST00000559233.1_Missense_Mutation_p.D278H|DPP8_ENST00000321147.6_Missense_Mutation_p.D278H|DPP8_ENST00000300141.6_Missense_Mutation_p.D262H|DPP8_ENST00000339244.5_Missense_Mutation_p.D278H	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	278					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAATATCTATCAAATTCTTCT	0.363000													37	30					0	0	0.098360	0	0
KIRREL3	84623	broad.mit.edu	37	11	126318921	126318921	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr11:126318921C>T	ENST00000525144.2	-	8	1229	c.980G>A	c.(979-981)cGc>cAc	p.R327H	KIRREL3_ENST00000525704.2_Missense_Mutation_p.R327H|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R327H	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	327	Ig-like C2-type 3.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GTCAACCGTGCGGCTGAGGTT	0.587000													13	48					0	0	0.093190	0	0
OR1N1	138883	broad.mit.edu	37	9	125288754	125288754	+	Silent	SNP	A	A	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr9:125288754A>T	ENST00000304880.2	-	1	818	c.819T>A	c.(817-819)gcT>gcA	p.A273A		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTACATTGCAGCTGCTGCAA	0.507000													24	59					0	0	0.069288	0	0
ADARB1	104	broad.mit.edu	37	21	46596226	46596226	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr21:46596226G>T	ENST00000539173.1	+	4	1045	c.610G>T	c.(610-612)Ggg>Tgg	p.G204W	ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000360697.3_Missense_Mutation_p.G204W|ADARB1_ENST00000389863.4_Missense_Mutation_p.G204W|ADARB1_ENST00000348831.4_Missense_Mutation_p.G204W	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	204					adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CAGTTCCAGCGGGGACCTCAG	0.592000													18	40					5.3912e-06	5.96262e-06	0.038395	1	0
RAD54L	8438	broad.mit.edu	37	1	46726628	46726628	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:46726628G>C	ENST00000371975.4	+	7	1381	c.707G>C	c.(706-708)gGg>gCg	p.G236A	RAD54L_ENST00000442598.1_Missense_Mutation_p.G236A	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	236	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TGGCTCGGAGGGAGGATCCAA	0.532000								Direct reversal of damage;Homologous recombination					13	30					0	0	0.093190	0	0
LIG4	3981	broad.mit.edu	37	13	108863173	108863173	+	Silent	SNP	T	T	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr13:108863173T>A	ENST00000356922.4	-	2	716	c.444A>T	c.(442-444)gtA>gtT	p.V148V	LIG4_ENST00000442234.1_Silent_p.V148V|LIG4_ENST00000405925.1_Silent_p.V148V	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	148					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAAGGTCGTTTACTTGCTGTA	0.373000								Non-homologous end-joining					112	51					0	0	0.048971	0	0
PAX8	7849	broad.mit.edu	37	2	114002029	114002029	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr2:114002029C>A	ENST00000429538.3	-	4	558	c.364G>T	c.(364-366)Gtg>Ttg	p.V122L	AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.V122L|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.V122L|PAX8_ENST00000348715.5_Missense_Mutation_p.V122L|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.V122L|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000333145.5_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	122	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						ACACTGGGCACAGTGTCATTG	0.552000			T	PPARG	follicular thyroid		Thyroid dysgenesis						53	196					2.81731e-22	4.00091e-22	0.048971	1	0
MUC17	140453	broad.mit.edu	37	7	100681471	100681471	+	Silent	SNP	T	T	G			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:100681471T>G	ENST00000306151.4	+	3	6838	c.6774T>G	c.(6772-6774)acT>acG	p.T2258T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2258	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGAAGCCACTTCATCTCCTA	0.502000													83	481					0	0	0.048971	0	0
ENPP1	5167	broad.mit.edu	37	6	132189226	132189226	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr6:132189226C>A	ENST00000360971.2	+	12	1253	c.1233C>A	c.(1231-1233)aaC>aaA	p.N411K		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	411	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AAGAGCTGAACTTGCACAGAT	0.408000													56	47					4.96213e-28	7.49001e-28	0.048971	1	0
FRYL	285527	broad.mit.edu	37	4	48555252	48555252	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr4:48555252T>C	ENST00000358350.4	-	36	5019	c.4415A>G	c.(4414-4416)aAa>aGa	p.K1472R	FRYL_ENST00000537810.1_Missense_Mutation_p.K1472R|FRYL_ENST00000507711.1_Missense_Mutation_p.K1472R|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.K1472R	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	1472					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGAAGGGATTTTATAGCTGGA	0.448000													24	54					0	0	0.099896	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237139	33237139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr1:33237139delT	ENST00000401073.2	+	6	2429	c.2359delT	c.(2359-2361)tcfs	p.F787fs	KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.F728fs|KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.F739fs|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	728	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CATGGCTGACTTCCCCCCACC	0.652													30	76	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													4	4	---	---	---	---					
PRLR	5618	broad.mit.edu	37	5	35066004	35066004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr5:35066004delC	ENST00000382002.5	-	10	1482	c.1056delG	c.(1054-1056)ggfs	p.G352fs	PRLR_ENST00000310101.5_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000342362.5_Frame_Shift_Del_p.G251fs|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Frame_Shift_Del_p.G251fs|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	352					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGTCACAGCTCCCCCGGCCTG	0.498													35	52	---	---	---	---					
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCAATTGTTCGTGTGTGTGTGT	0.356													7	251	---	---	---	---					
FAM74A3	728495	broad.mit.edu	37	9	40715923	40715924	+	RNA	DEL	AA	AA	-	rs62565543		TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr9:40715923_40715924delAA	ENST00000604146.1	+	0	262_263					NR_026801.1															endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GAAGACGTGGAAAGAGCTCAGA	0.569													3	6	---	---	---	---					
C14orf39	317761	broad.mit.edu	37	14	60935256	60935257	+	Splice_Site	INS	-	-	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr14:60935256_60935257insA	ENST00000321731.3	-	9	835		c.e9-2			NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39											breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AGATATCTGCTAAAAAGACAAT	0.282													31	26	---	---	---	---					
RAI1	10743	broad.mit.edu	37	17	17696953	17696954	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr17:17696953_17696954insA	ENST00000353383.1	+	3	1160_1161	c.691_692insA	c.(691-693)gggfs	p.G231fs	RAI1_ENST00000261641.6_Frame_Shift_Ins_p.G231fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	231	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGGTGGTGGGCAGGGGGCCCAC	0.668													20	72	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29490318	29490321	+	Frame_Shift_Del	DEL	CGGA	CGGA	-			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr17:29490318_29490321delCGGA	ENST00000358273.4	+	4	786_789	c.403_406delCGGA	c.(403-408)atfs	p.RN135fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.RN135fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.RN135fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	135					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.L134fs*19(1)|p.R135fs*30(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCTGAACTTCGGAATTCTGCCTC	0.436			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			19	28	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)tcfs	p.I91fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|CDC27_ENST00000528748.1_5'UTR	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													9	98	---	---	---	---					
TXLNGY	246126	broad.mit.edu	37	Y	21758004	21758005	+	RNA	DEL	AG	AG	-			TCGA-78-7535-01A-11D-2063-08	TCGA-78-7535-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa8844f8-c4b6-487a-8187-e30c12a7a453	fc832d25-7dca-4b87-8df0-0fe45ca2c0fe	g.chrY:21758004_21758005delAG	ENST00000253320.4	+	0	3085_3086							Q9BZA5	CY15A_HUMAN												haematopoietic_and_lymphoid_tissue(1)	1						GAAAGACATCAGAGAGAGAGAG	0.347													2	4	---	---	---	---					
