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
SLC44A4	80736	broad.mit.edu	37	6	31833747	31833747	+	Missense_Mutation	SNP	C	C	T	rs149591801		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:31833747C>T	uc010jti.3	-	13	1456	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I	SLC44A4_uc011dol.2_Missense_Mutation_p.V388I|SLC44A4_uc011dom.2_Missense_Mutation_p.V422I	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	464						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.V464I(4)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCAGCGAGGACGCATTGGCCC	0.557000													40	73					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29843734	29843734	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:29843734G>A	uc001iut.1	-	4	891	c.138C>T	c.(136-138)agC>agT	p.S46S	SVIL_uc001iuu.1_Silent_p.S46S|SVIL_uc009xld.1_Silent_p.S46S	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	46	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGCAGGGTCGCTGGCTCTCA	0.592000													20	19					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569431	248569431	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:248569431G>A	uc010pzm.2	+	0	136	c.136G>A	c.(136-138)Ggc>Agc	p.G46S		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I45I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			ACCTTATATCGGCACAACTGT	0.383000													28	77					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55251777	55251777	+	Missense_Mutation	SNP	C	C	T	rs145786276		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:55251777C>T	uc009vzt.1	-	4	1004	c.899G>A	c.(898-900)cGc>cAc	p.R300H	TTC22_uc001cxz.4_Missense_Mutation_p.R300H	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	300							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TTTTGCCAGGCGATTCAGGAT	0.502000													19	25					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17899082	17899082	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:17899082C>T	uc002nhg.3	+	28	2930	c.2651C>T	c.(2650-2652)gCa>gTa	p.A884V	FCHO1_uc010ebb.2_Intron|FCHO1_uc002nhh.2_Intron|FCHO1_uc010xpw.1_Intron	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	0										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CTCACAGCTGCACCCCCACAG	0.647000													13	12					0	0	1	0	0
C1orf110	339512	broad.mit.edu	37	1	162825078	162825078	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:162825078C>T	uc001gck.2	-	3	561	c.386G>A	c.(385-387)gGc>gAc	p.G129D	C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.G128D	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.	129										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GTCTTTGAGGCCAGCATCATG	0.463000													175	296					0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40711382	40711382	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr22:40711382T>C	uc011aor.2	+	19	4985	c.4774T>C	c.(4774-4776)Tcc>Ccc	p.S1592P	TNRC6B_uc003aym.3_Missense_Mutation_p.S788P|TNRC6B_uc003ayn.4_Missense_Mutation_p.S1482P|TNRC6B_uc003ayo.3_Missense_Mutation_p.S1339P	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1592					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						CCATATTTCCTCCAGGAACAC	0.537000													7	70					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36242543	36242543	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:36242543C>T	uc021rid.1	+	56	9171	c.8637C>T	c.(8635-8637)acC>acT	p.T2879T	NBEA_uc021ric.1_Silent_p.T2876T|NBEA_uc010abi.3_Silent_p.T1537T|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Silent_p.T672T|NBEA_uc001uvd.3_Silent_p.T457T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2879						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			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)		ACCTGGTCACCGGAGGGGACA	0.443000													14	0					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73736211	73736211	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:73736211C>A	uc004aid.3	-	0	304	c.60G>T	c.(58-60)ttG>ttT	p.L20F	TRPM3_uc004aic.3_Missense_Mutation_p.L20F|TRPM3_uc010mor.3_Missense_Mutation_p.L20F|TRPM3_uc004aii.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	20						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACCAGGAAAACAAGAAACTGA	0.512000													82	6					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27437875	27437875	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:27437875T>C	uc001iti.3	-	1	338	c.128A>G	c.(127-129)cAt>cGt	p.H43R	YME1L1_uc001itj.3_Missense_Mutation_p.H43R|YME1L1_uc010qdl.2_Missense_Mutation_p.H43R|YME1L1_uc001itk.2_Missense_Mutation_p.H43R	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	43					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	p.Q42R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACATCTCGATGCTGGTTTTG	0.428000													127	69					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272436	158272436	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:158272436G>A	uc002tzj.1	-	7	905	c.833C>T	c.(832-834)aCg>aTg	p.T278M	CYTIP_uc010zcl.1_Missense_Mutation_p.T172M	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	278	Ser-rich.			T -> Q (in Ref. 5; AAA16575).	regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						ATCTGTACTCGTCTGCCGACT	0.542000													13	48					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811258	7811258	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:7811258C>T	uc004crz.3	+	1	233	c.14C>T	c.(13-15)cCg>cTg	p.P5L		NM_013452	NP_038480	Q9H320	VCX1_HUMAN	Homo sapiens variable charge, X-linked (VCX), mRNA.	5					chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				AGTCCAAAGCCGAGAGCCTCG	0.622000													30	221					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr16:32890622T>G	uc002edh.1	-	4	440	c.264A>C	c.(262-264)aaA>aaC	p.K88N	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		CGTTGGTGTTTTTGTAGACCA	0.617000													3	16					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785693	111785693	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:111785693C>G	uc001tsa.2	+	21	4179	c.4025C>G	c.(4024-4026)cCa>cGa	p.P1342R		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1342	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GATGGACTCCCAAAAGTGGCT	0.642000													42	146					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137942260	137942260	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:137942260C>T	uc003esa.1	+	4	549	c.182C>T	c.(181-183)tCa>tTa	p.S61L	ARMC8_uc003erw.3_Missense_Mutation_p.S61L|ARMC8_uc003erx.3_Missense_Mutation_p.S61L|ARMC8_uc003ery.3_Missense_Mutation_p.S33L|ARMC8_uc011bmf.1_Missense_Mutation_p.S75L|ARMC8_uc011bmg.1_Missense_Mutation_p.S75L|ARMC8_uc011bmh.1_Missense_Mutation_p.S33L|ARMC8_uc003esb.1_Missense_Mutation_p.S33L	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	75							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						CAAGAAACCTCAAGCACAGAG	0.383000													37	11					0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74985231	74985231	+	Silent	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:74985231C>A	uc001owe.2	-	10	1025	c.801G>T	c.(799-801)acG>acT	p.T267T	ARRB1_uc001owf.2_Silent_p.T267T	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	267					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CCTTGCAGAACGTCGAGCTGG	0.597000													33	239					0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41165846	41165846	+	Splice_Site	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:41165846C>T	uc010jxm.1	-	2	555	c.376_splice	c.e2+1	p.A126_splice		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	126					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCCTGCTCACCTGGAGACAC	0.572000													16	31					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160468851	160468851	+	Missense_Mutation	SNP	C	C	T	rs146539241		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:160468851C>T	uc003qta.3	+	16	2405	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	753					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTACAACTTCCGGTGGTACAC	0.547000													49	109					0	0	1	0	0
NSL1	25936	broad.mit.edu	37	1	212964986	212964986	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:212964986G>T	uc001hjn.3	-	0	154	c.120C>A	c.(118-120)tgC>tgA	p.C40*	NSL1_uc001hjm.3_Nonsense_Mutation_p.C40*|NSL1_uc010pti.2_Nonsense_Mutation_p.C40*|TATDN3_uc001hjo.2_5'Flank|TATDN3_uc010ptj.1_5'Flank|TATDN3_uc010ptk.1_5'Flank|TATDN3_uc001hjp.2_5'Flank|TATDN3_uc010ptl.1_5'Flank	NM_015471	NP_056286	Q96IY1	NSL1_HUMAN	Homo sapiens NSL1, MIND kinetochore complex component, homolog (S. cerevisiae) (NSL1), transcript variant 1, mRNA.	40					cell division|chromosome segregation|mitotic prometaphase	MIS12/MIND type complex|cytosol|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GCTTCGAGGTGCAGCGCACCC	0.647000													21	156					0	0	1	0	0
XAF1	54739	broad.mit.edu	37	17	6676464	6676464	+	Silent	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:6676464A>G	uc002gdn.3	+	6	1124	c.882A>G	c.(880-882)ggA>ggG	p.G294G	XAF1_uc002gdo.3_Silent_p.G275G|XAF1_uc002gdp.3_Silent_p.G243G|XAF1_uc002gdq.3_Silent_p.G126G|XAF1_uc002gdr.3_Silent_p.G224G	NM_017523	NP_059993	Q6GPH4	XAF1_HUMAN	Homo sapiens XIAP associated factor 1 (XAF1), transcript variant 1, mRNA.	294					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding			large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						CATCAAAAGGAAAACAAGTGA	0.353000													5	19					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13504291	13504291	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:13504291G>A	uc002gob.1	-	0	954	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	52						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCCCCACGACGGGGCCGGACA	0.726000													3	4					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898380	47898380	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:47898380T>G	uc003tny.2	-	26	4287	c.4253A>C	c.(4252-4254)gAg>gCg	p.E1418A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1418	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCGATGAGCTCAAGCCTCAC	0.493000													20	94					0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99917215	99917215	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:99917215C>T	uc004egb.3	+	3	686	c.206C>T	c.(205-207)gCc>gTc	p.A69V		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	69	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GATGGAGAAGCCACATGCTAC	0.488000													13	123					0	0	1	0	0
SUSD5	26032	broad.mit.edu	37	3	33216515	33216515	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:33216515C>G	uc003cfo.1	-	3	879	c.461G>C	c.(460-462)cGc>cCc	p.R154P		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	154	Sushi.				cell adhesion	integral to membrane	hyaluronic acid binding	p.R154H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAAGCCGGTGCGGCCCTGCAG	0.567000													40	70					0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95162632	95162632	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:95162632C>A	uc001kin.3	-	9	982	c.859G>T	c.(859-861)Gtt>Ttt	p.V287F	MYOF_uc001kio.3_Missense_Mutation_p.V287F|MYOF_uc001kip.4_Missense_Mutation_p.V287F|MYOF_uc009xuf.2_Missense_Mutation_p.V269F	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	287					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.V287G(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCATCATAAACAAATCCAACA	0.299000													6	22					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10689685	10689685	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:10689685C>A	uc001arn.3	+	8	796	c.775C>A	c.(775-777)Cac>Aac	p.H259N	PEX14_uc009vmv.3_Missense_Mutation_p.H195N|PEX14_uc010oam.2_Missense_Mutation_p.H195N|PEX14_uc010oan.2_Missense_Mutation_p.H216N|PEX14_uc009vmw.3_Missense_Mutation_p.H195N	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	259					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGAACCACCACAGCAGCAG	0.642000													55	45					0	0	1	0	0
FCHSD1	89848	broad.mit.edu	37	5	141023864	141023864	+	Missense_Mutation	SNP	C	C	T	rs140791780	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr5:141023864C>T	uc003llk.3	-	16	1835	c.1784G>A	c.(1783-1785)cGt>cAt	p.R595H	FCHSD1_uc010jgg.3_Missense_Mutation_p.R278H|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	595	SH3 2.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCCCAACACGGCCCCCAAA	0.632000													3	14					0	0	1	0	0
EXOC6	54536	broad.mit.edu	37	10	94688101	94688101	+	Missense_Mutation	SNP	C	C	G	rs75784691	byFrequency	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:94688101C>G	uc010qnr.2	+	9	1085	c.942C>G	c.(940-942)gaC>gaG	p.D314E	EXOC6_uc001kie.3_Missense_Mutation_p.D293E|EXOC6_uc001kig.3_Missense_Mutation_p.D298E|EXOC6_uc009xub.3_Missense_Mutation_p.D298E|EXOC6_uc009xuc.3_Missense_Mutation_p.D275E|EXOC6_uc001kih.3_Non-coding_Transcript	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	298					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTAGGGTGACGAGGAAACAT	0.333000													17	43					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50765622	50765622	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:50765622A>C	uc021vhh.1	-	8	2833	c.1912T>G	c.(1912-1914)Tat>Gat	p.Y638D	NRXN1_uc002rxb.4_Missense_Mutation_p.Y310D|NRXN1_uc021vhg.1_Missense_Mutation_p.Y678D|NRXN1_uc021vhi.1_Missense_Mutation_p.Y674D|NRXN1_uc021vhj.1_Missense_Mutation_p.Y634D|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	638	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACGTAGCCATAGTTGAGCAGA	0.517000													79	154					0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922694	24922694	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:24922694C>T	uc001ywo.3	+	0	2154	c.1680C>T	c.(1678-1680)aaC>aaT	p.N560N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	560					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCACAACAAACGCATCTGCCC	0.473000													44	74					0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110397663	110397663	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:110397663G>A	uc001tps.2	-	11	1253	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	GIT2_uc001tpq.2_Missense_Mutation_p.S363L|GIT2_uc001tpv.2_Missense_Mutation_p.S365L|GIT2_uc001tpu.2_Missense_Mutation_p.S363L|GIT2_uc001tpt.2_Missense_Mutation_p.S363L|GIT2_uc010sxu.1_Missense_Mutation_p.S301L|GIT2_uc001tpw.3_Missense_Mutation_p.S363L|GIT2_uc010sxv.1_Missense_Mutation_p.S363L	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	363					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTTTGAACCCGAGAGAGAACT	0.453000													5	32					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41111336	41111336	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:41111336C>G	uc002ooh.1	+	5	669	c.669C>G	c.(667-669)caC>caG	p.H223Q	LTBP4_uc002oog.1_Missense_Mutation_p.H186Q|LTBP4_uc002ooi.1_Missense_Mutation_p.H156Q	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	223					growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGCGTCCACGTGGAGCACC	0.692000													13	51					0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57956698	57956698	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:57956698G>T	uc002qoq.2	+	2	2436	c.2182G>T	c.(2182-2184)Gaa>Taa	p.E728*		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	728					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAAGTTAAGGGAATGTGGGAA	0.403000													23	62					0	0	1	0	0
HMGB3P1	128872	broad.mit.edu	37	20	33421640	33421640	+	RNA	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:33421640C>A	uc002xax.3	-	0		c.626G>T								Homo sapiens high mobility group box 3 pseudogene 1 (HMGB3P1), non-coding RNA.																		GATCTTGGGGCAGAATTCTGA	0.458000													18	11					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881910	18881910	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:18881910C>A	uc002guw.3	-	4	1236	c.1069G>T	c.(1069-1071)Gtc>Ttc	p.V357F	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	357										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATCTCGTCGACGCTCTTGGCC	0.627000													34	58					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682628	100682628	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:100682628C>T	uc003uxp.1	+	2	7984	c.7931C>T	c.(7930-7932)cCa>cTa	p.P2644L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2644	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)					AGCACCATGCCAGTGGCCAGT	0.463000													133	523					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350291	71350291	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:71350291C>A	uc010nlh.2	-	0	1100	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.R367M	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	367										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTGAAAAGCCCTCATGCGCTT	0.488000													7	21					0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33764024	33764024	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:33764024A>G	uc002xbt.3	+	2	560	c.376A>G	c.(376-378)Aga>Gga	p.R126G	EDEM2_uc010zuv.1_Intron	NM_006404	NP_006395	Q9UNN8	EPCR_HUMAN	Homo sapiens protein C receptor, endothelial (PROCR), mRNA.	126					antigen processing and presentation|blood coagulation|immune response	MHC class I protein complex|integral to plasma membrane	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	CGAGGGCTCTAGAGCCCATGT	0.607000													33	98					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414875	68414875	+	RNA	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:68414875G>A	uc004aex.3	+	0		c.1430G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		gttgcagtgagccgagaccgc	0.413000													4	5					0	0	1	0	0
CCR3	1232	broad.mit.edu	37	3	46306665	46306665	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:46306665G>C	uc003cpl.2	+	2	1146	c.115G>C	c.(115-117)Gat>Cat	p.D39H	CCR3_uc003cpg.2_Missense_Mutation_p.D6H|CCR3_uc003cpk.2_Missense_Mutation_p.D27H|CCR3_uc003cpi.2_Missense_Mutation_p.D6H|CCR3_uc010hjb.2_Missense_Mutation_p.D24H|CCR3_uc003cpj.2_Missense_Mutation_p.D6H|CCR3_uc021wwz.1_Missense_Mutation_p.D6H	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	6			P -> L (in dbSNP:rs5742906).		G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AACCTCACTAGATACAGTTGA	0.438000													8	47					0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109117242	109117242	+	Missense_Mutation	SNP	A	A	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr5:109117242A>G	uc003kou.1	+	8	2483	c.1520A>G	c.(1519-1521)tAt>tGt	p.Y507C		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	507					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TGGAGTGGCTATTTTACATCC	0.373000													14	25					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003729	119003729	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:119003729C>T	uc001ldd.2	+	2	532	c.369C>T	c.(367-369)gaC>gaT	p.D123D	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	123					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AAGACAAAGACCTCCTGAATG	0.527000													21	85					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103901271	103901271	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:103901271G>A	uc001kum.3	+	4	3045	c.3006G>A	c.(3004-3006)ttG>ttA	p.L1002L	PPRC1_uc001kun.3_Silent_p.L882L|PPRC1_uc010qqj.2_Silent_p.L1002L|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1002	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CACCTCCTTTGCCTCCAGCCT	0.562000													7	73					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49174007	49174007	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:49174007G>A	uc002pkb.3	-	1	333	c.237C>T	c.(235-237)agC>agT	p.S79S	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Silent_p.S79S	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	79						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						AGAAGCGCAAGCTGACAGATG	0.667000													33	20					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158581178	158581178	+	Splice_Site	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:158581178G>T	uc001fst.1	-	52	7334	c.7135_splice	c.e52-1	p.A2379_splice		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2379	EF-hand 3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGGGTAAGGGCCTGAAAAGT	0.458000													11	94					0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	23003128	23003128	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:23003128C>A	uc001irl.4	-	0	376	c.128G>T	c.(127-129)tGg>tTg	p.W43L		NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	43	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GTTTACCCCCCACATGAGGAC	0.627000													19	31					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8555562	8555562	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:8555562G>A	uc002mkd.3	-	6	1885	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	656							lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CGGATCCCGAGGTGCTTGCCA	0.617000													3	21					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1251811	1251811	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr16:1251811G>A	uc002cks.3	+	8	1609	c.1361G>A	c.(1360-1362)gGc>gAc	p.G454D	CACNA1H_uc002ckt.3_Missense_Mutation_p.G454D	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	454					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCCGAGCCTGGCAGCTGCTAC	0.657000													12	0					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119582946	119582946	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:119582946C>T	uc004bjt.2	-	10	2105	c.2004G>A	c.(2002-2004)acG>acA	p.T668T	ASTN2_uc022bml.1_Silent_p.T364T|ASTN2_uc022bmm.1_Silent_p.T368T	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	719	EGF-like 2.					integral to membrane		p.T668T(2)|p.T668K(1)		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						GCAGGGGCAGCGTCTGCTGCA	0.577000													115	11					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197707534	197707534	+	Silent	SNP	A	A	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:197707534A>C	uc002utw.3	-	25	2655	c.2541T>G	c.(2539-2541)ctT>ctG	p.L847L	PGAP1_uc002utx.3_Silent_p.L673L|PGAP1_uc010fsi.3_Intron	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	Homo sapiens post-GPI attachment to proteins 1 (PGAP1), mRNA.	847					C-terminal protein lipidation|attachment of GPI anchor to protein|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GATCAGGATTAAGTTTAAAAT	0.279000													34	19					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66204707	66204707	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:66204707G>C	uc011dxu.1	-	3	1135	c.597C>G	c.(595-597)agC>agG	p.S199R	EYS_uc003peq.3_Missense_Mutation_p.S199R|EYS_uc003per.1_Missense_Mutation_p.S199R|EYS_uc021zbn.1_Missense_Mutation_p.S199R|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	199	EGF-like 1.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.S199G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GGCAATGGCAGCTATATGTCT	0.398000													9	37					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18158857	18158857	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:18158857C>T	uc021qek.1	+	0	108	c.108C>T	c.(106-108)atC>atT	p.I36I	MRGPRX3_uc001mnu.3_Silent_p.I36I	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	36						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGACGTGCATCGTTTCCCTTG	0.582000													5	259					0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71874719	71874719	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:71874719G>A	uc010qjg.2	-	6	943	c.927C>T	c.(925-927)atC>atT	p.I309I	AIFM2_uc021psi.1_Silent_p.I309I|AIFM2_uc001jqp.2_Silent_p.I309I	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	309					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CAGAGTTGACGATGTTGGCCA	0.577000													10	37					0	0	1	0	0
FNDC3A	22862	broad.mit.edu	37	13	49775991	49775991	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:49775991G>A	uc001vcm.3	+	23	3348	c.3043G>A	c.(3043-3045)Gag>Aag	p.E1015K	FNDC3A_uc001vcn.3_Missense_Mutation_p.E1015K|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.E959K	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	1015	Fibronectin type-III 8.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGACTTAATGAGTCAACATC	0.358000													32	8					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113488914	113488914	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr13:113488914C>T	uc001vsj.4	+	14	1659	c.1571C>T	c.(1570-1572)aCc>aTc	p.T524I	ATP11A_uc001vsi.4_Missense_Mutation_p.T524I|ATP11A_uc001vsm.1_Missense_Mutation_p.T400I	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	524					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CTTGGCTTTACCTACCTAAGG	0.423000													49	214					0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107225158	107225158	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:107225158C>A	uc004enn.1	-	1	293	c.200G>T	c.(199-201)tGc>tTc	p.C67F		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	67										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GCCCCAGGTGCAGGCCTCTTT	0.592000													165	18					0	0	1	0	0
MESDC1	59274	broad.mit.edu	37	15	81294956	81294956	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:81294956T>C	uc002bfz.3	+	0	1662	c.344T>C	c.(343-345)cTg>cCg	p.L115P		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	Homo sapiens mesoderm development candidate 1 (MESDC1), mRNA.	115										endometrium(1)|lung(2)	3						CTGGTGGAGCTGGGCGACCTG	0.726000													3	16					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132202305	132202305	+	Silent	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:132202305C>G	uc003eor.3	+	27	3131	c.3066C>G	c.(3064-3066)tcC>tcG	p.S1022S		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1022							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CACTTCAGTCCATACCCCAGC	0.458000													11	85					0	0	1	0	0
NCOR1P1	149934	broad.mit.edu	37	20	26084296	26084296	+	Silent	SNP	A	A	G	rs61752037	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:26084296A>G	uc002wvj.4	-	1	175	c.120T>C	c.(118-120)ttT>ttC	p.F40F						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.									p.F40F(1)									GTTTGCCTCCAAATGCTGGAT	0.378000													3	27					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23167294	23167294	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:23167294G>A	uc003xdh.1	-	9	2106	c.1767C>T	c.(1765-1767)ccC>ccT	p.P589P	LOXL2_uc010lty.1_Silent_p.P128P	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	589	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AGCCCGTGGTGGGGTCGGTCT	0.662000													8	49					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7534894	7534894	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:7534894C>A	uc002mgi.3	+	17	3581	c.3328C>A	c.(3328-3330)Cac>Aac	p.H1110N	ARHGEF18_uc010xjm.1_Missense_Mutation_p.H952N|ARHGEF18_uc002mgh.3_Missense_Mutation_p.H952N|ARHGEF18_uc002mgj.1_Missense_Mutation_p.H747N|ARHGEF18_uc021unt.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	1110	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCCGGCAGACACAGTCCTGC	0.662000													4	108					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117703237	117703237	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr12:117703237G>A	uc001twn.2	-	11	2731	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	NOS1_uc021ren.1_Missense_Mutation_p.R338W|NOS1_uc021reo.1_Missense_Mutation_p.R338W|NOS1_uc001twm.2_Missense_Mutation_p.R674W	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	674					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CAGCCCCCCCGGCAGCGGTAC	0.607000													9	8					0	0	1	0	0
AK308561	0	broad.mit.edu	37	9	68410224	68410224	+	RNA	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:68410224C>A	uc004aew.1	+	0		c.227C>A								Homo sapiens cDNA, FLJ98602.																		gtgagagggtcgtgatggatt	0.498000													3	8					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149356602	149356602	+	Nonsense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:149356602C>A	uc003ilj.4	-	1	1774	c.1411G>T	c.(1411-1413)Gga>Tga	p.G471*	NR3C2_uc003ilk.4_Nonsense_Mutation_p.G471*|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	471	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CCTAAAATTCCTGATAGGGAA	0.433000													23	48					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46725698	46725698	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:46725698C>T	uc001cpl.2	+	4	1045	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	RAD54L_uc009vye.2_Missense_Mutation_p.P112S	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	112					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)		CCTCCATGACCCCCTGGAAAA	0.537000								Direct reversal of damage;Homologous recombination					93	85					0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46274875	46274875	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:46274875G>A	uc002pdi.1	-	12	1815	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	SIX5_uc002pdb.3_5'Flank|DMPK_uc021uwb.1_5'UTR|DMPK_uc010xxs.1_Silent_p.V428V|DMPK_uc002pdd.1_Silent_p.V527V|DMPK_uc002pde.1_Silent_p.V522V|DMPK_uc002pdg.1_Silent_p.V512V|DMPK_uc002pdf.1_Silent_p.V517V|DMPK_uc002pdh.1_Silent_p.V512V|DMPK_uc010xxt.1_Silent_p.V512V	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	527					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCAACTGCCGGACGTGTGCCT	0.672000													18	51					0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840559	142840559	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:142840559C>T	uc003evm.3	+	1	1840	c.901C>T	c.(901-903)Cta>Tta	p.L301L	CHST2_uc021xex.1_Silent_p.L301L	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	301					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTACCGCACACTAGTCATAAA	0.647000													4	17					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108385313	108385313	+	Silent	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:108385313T>C	uc001pkk.3	-	5	1032	c.921A>G	c.(919-921)aaA>aaG	p.K307K	EXPH5_uc010rvz.2_Silent_p.K151K|EXPH5_uc010rvy.2_Silent_p.K119K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	307					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATAATCTTCTTTAAAGACTC	0.438000													12	23					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26235493	26235493	+	Missense_Mutation	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:26235493T>C	uc003sxr.4	-	7	947	c.731A>G	c.(730-732)tAt>tGt	p.Y244C	HNRNPA2B1_uc003sxs.4_Missense_Mutation_p.Y232C	NM_031243	NP_112533	P22626	ROA2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.	244	Gly-rich.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ATACCCATTATAGCCATCCCC	0.363000			T	ETV1	prostate								54	19					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40703957	40703957	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:40703957C>T	uc001cfc.4	+	7	3614	c.3583C>T	c.(3583-3585)Cat>Tat	p.H1195Y	RLF_uc001cfd.4_Missense_Mutation_p.H886Y	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	1195					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TAAAAATAAACATCAAATTGG	0.358000													31	32					0	0	1	0	0
CORO6	84940	broad.mit.edu	37	17	27945807	27945807	+	Splice_Site	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:27945807C>G	uc002hel.2	-	4	635	c.633_splice	c.e4+1	p.A211_splice	CORO6_uc002hem.3_5'Flank|CORO6_uc002hen.3_5'Flank	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN	Homo sapiens coronin 6 (CORO6), mRNA.	211					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CAGGCACTCACCGCCACCACT	0.602000													15	25					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20216367	20216367	+	Missense_Mutation	SNP	T	T	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:20216367T>A	uc003cbu.3	-	5	811	c.656A>T	c.(655-657)aAg>aTg	p.K219M	SGOL1_uc003cbw.3_Intron|SGOL1_uc003cbv.3_Intron|SGOL1_uc003cbt.3_Intron|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Missense_Mutation_p.K219M|SGOL1_uc003cbr.3_Intron|SGOL1_uc003ccc.3_Intron|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Intron|SGOL1_uc003cca.3_Missense_Mutation_p.K219M|SGOL1_uc003cby.3_Intron|SGOL1_uc003cbx.3_Intron|SGOL1_uc003cbz.3_Missense_Mutation_p.K219M	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	219					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTCAAAAGACTTCCCTGCCAA	0.373000													5	80					0	0	1	0	0
PDZD8	118987	broad.mit.edu	37	10	119043162	119043162	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:119043162G>A	uc001lde.1	-	4	3281	c.3082C>T	c.(3082-3084)Cct>Tct	p.P1028S		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	Homo sapiens PDZ domain containing 8 (PDZD8), mRNA.	1028					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)		TCCTCTGTAGGCAAGCCCCTG	0.403000													6	125					0	0	1	0	0
C7orf49	78996	broad.mit.edu	37	7	134851483	134851483	+	Silent	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:134851483C>A	uc003vsl.3	-	3	667	c.354G>T	c.(352-354)ctG>ctT	p.L118L	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Silent_p.L89L|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Silent_p.L63L|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Silent_p.L63L|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	118						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GGCCTGGAGCCAGTGCCTGTT	0.627000													29	80					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175649822	175649822	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:175649822G>C	uc003ity.1	-	3	798	c.295C>G	c.(295-297)Cag>Gag	p.Q99E	GLRA3_uc003itz.1_Missense_Mutation_p.Q99E	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	99					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R98C(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TTCCATTTCTGACGAAGAAAG	0.378000													24	69					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7950683	7950683	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:7950683A>T	uc002gju.3	+	10	1681	c.1565A>T	c.(1564-1566)aAc>aTc	p.N522I	ALOX15B_uc002gjv.3_Missense_Mutation_p.N493I|ALOX15B_uc002gjw.3_Intron|ALOX15B_uc010vun.2_Missense_Mutation_p.N510I|ALOX15B_uc010cnp.3_Missense_Mutation_p.N328I	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	522	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GGCTTCCTAAACCAGGAGAGC	0.567000													8	34					0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104388056	104388056	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:104388056C>G	uc003ylk.3	+	1	340	c.241C>G	c.(241-243)Cca>Gca	p.P81A	CTHRC1_uc011lhq.1_Missense_Mutation_p.P81A	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.	81	Collagen-like.					collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			ACCTGGGATCCCAGGTCGGGA	0.527000													18	123					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106730	27106730	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:27106730C>A	uc001bmv.1	+	19	6714	c.6341C>A	c.(6340-6342)cCg>cAg	p.P2114Q	ARID1A_uc001bmu.1_Missense_Mutation_p.P1897Q|ARID1A_uc001bmx.1_Missense_Mutation_p.P960Q|ARID1A_uc009vsm.1_Missense_Mutation_p.P442Q|ARID1A_uc009vsn.1_Missense_Mutation_p.P356Q	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2114					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCCTTTCCCCGCAGAGACTG	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								60	137					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43252989	43252989	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:43252989G>T	uc002lbe.3	+	16	3170	c.2354G>T	c.(2353-2355)gGa>gTa	p.G785V	SLC14A2_uc010dnj.3_Missense_Mutation_p.G785V	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	785						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGCAATTGGATCCACCATG	0.527000													37	122					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113312294	113312294	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:113312294C>A	uc010mtz.3	-	1	959	c.622G>T	c.(622-624)Gca>Tca	p.A208S	SVEP1_uc010mua.1_Missense_Mutation_p.A208S|SVEP1_uc004beu.2_Missense_Mutation_p.A208S|SVEP1_uc004bev.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	208	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGTGACGCTGCAATTGGTCTA	0.443000													23	85					0	0	1	0	0
C9orf9	11092	broad.mit.edu	37	9	135762851	135762851	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:135762851C>T	uc004cbz.1	+	2	389	c.240C>T	c.(238-240)tgC>tgT	p.C80C	C9orf9_uc004cbx.1_Silent_p.C80C|C9orf9_uc004cby.1_Silent_p.C80C	NM_018956	NP_061829	Q96E40	CI009_HUMAN	Homo sapiens chromosome 9 open reading frame 9 (C9orf9), mRNA.	80								p.?(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06)		ATAAGCTCTGCCAGCACTTTG	0.537000													31	225					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16973009	16973009	+	Splice_Site	SNP	C	C	T	rs2501760	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:16973009C>T	uc009vow.2	+	2		c.252_splice	c.e2+1		CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Splice_Site|MST1P2_uc010och.2_Splice_Site|MST1P2_uc010oci.1_Splice_Site|MST1P2_uc001azk.2_Splice_Site|MST1P2_uc009vox.3_5'Flank|MST1P2_uc001azm.4_5'Flank					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		AATGGACTGCCGGTGAGTGGC	0.617000													6	201					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163302838	163302838	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:163302838A>T	uc002uch.2	-	6	1473	c.1244T>A	c.(1243-1245)cTg>cAg	p.L415Q	KCNH7_uc002uci.3_Missense_Mutation_p.L408Q	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	415					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GACCAACAGCAGGATAAGCCA	0.453000													5	25					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692893	89692893	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:89692893C>A	uc001kfb.3	+	4	1409	c.377C>A	c.(376-378)gCt>gAt	p.A126D	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	126	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.A126D(6)|p.A126T(6)|p.?(5)|p.R55fs*1(5)|p.A126V(4)|p.A121_F145del(2)|p.Y27fs*1(2)|p.K125N(2)|p.A126S(2)|p.A126P(2)|p.K125E(2)|p.Y27_N212>Y(2)|p.A126fs*8(1)|p.K125*(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACTGTAAAGCTGGAAAGGGA	0.408000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			81	51					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360910	42360910	+	Nonsense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr14:42360910G>T	uc001wvm.3	+	3	3041	c.1843G>T	c.(1843-1845)Gaa>Taa	p.E615*	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	615						integral to membrane		p.S614*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCAATCTTCAGAAACTTGTTC	0.483000										HNSCC(30;0.082)			16	36					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126733148	126733148	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:126733148C>A	uc003ejg.3	+	10	2534	c.2534C>A	c.(2533-2535)gCc>gAc	p.A845D		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	845					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACTGCGCTGCCGACACACCT	0.711000													4	25					0	0	1	0	0
RG9MTD3	158234	broad.mit.edu	37	9	37776300	37776300	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:37776300C>T	uc004aai.3	+	7	819	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	RG9MTD3_uc011lqo.2_Missense_Mutation_p.R197W|RG9MTD3_uc011lqp.2_Missense_Mutation_p.R170W|RG9MTD3_uc011lqq.2_Missense_Mutation_p.R137W|RG9MTD3_uc004aaj.3_Non-coding_Transcript|RG9MTD3_uc004aak.3_Missense_Mutation_p.R153W	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 3 (RG9MTD3), mRNA.	248							methyltransferase activity			endometrium(1)|large_intestine(2)|lung(1)	4				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		TCAAAAGGCCCGGGAATACTC	0.338000													11	4					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542810	14542810	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:14542810G>T	uc010dln.3	-	0	790	c.336C>A	c.(334-336)agC>agA	p.S112R	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	112										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCTTGCCGCTCCCCCTGC	0.592000													121	163					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542000	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			26	0					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110588205	110588205	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:110588205G>T	uc010mcp.3	-	7	1284	c.922C>A	c.(922-924)Cgc>Agc	p.R308S	SYBU_uc003yni.4_Missense_Mutation_p.R305S|SYBU_uc003ynk.4_Missense_Mutation_p.R189S|SYBU_uc003ynj.4_Missense_Mutation_p.R308S|SYBU_uc010mco.3_Missense_Mutation_p.R307S|SYBU_uc003ynl.4_Missense_Mutation_p.R307S|SYBU_uc010mcq.3_Missense_Mutation_p.R308S|SYBU_uc003yno.4_Missense_Mutation_p.R189S|SYBU_uc010mcr.3_Missense_Mutation_p.R308S|SYBU_uc003ynm.4_Missense_Mutation_p.R307S|SYBU_uc003ynn.4_Missense_Mutation_p.R307S|SYBU_uc010mcs.3_Missense_Mutation_p.R189S|SYBU_uc010mct.3_Missense_Mutation_p.R308S|SYBU_uc010mcu.3_Missense_Mutation_p.R307S|SYBU_uc003ynp.4_Missense_Mutation_p.R240S|SYBU_uc010mcv.3_Missense_Mutation_p.R308S|SYBU_uc003ynh.4_Missense_Mutation_p.R102S|SYBU_uc011lhw.2_Missense_Mutation_p.R178S	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	308	Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane		p.R307Q(1)|p.R307L(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTCGCATGCGGGCCAGCTGG	0.433000													24	66					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48673986	48673986	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:48673986C>A	uc011mmi.1	+	15	1356	c.1261C>A	c.(1261-1263)Cag>Aag	p.Q421K	HDAC6_uc004dks.1_Missense_Mutation_p.Q421K|HDAC6_uc010nig.1_Missense_Mutation_p.Q269K|HDAC6_uc004dkt.1_Missense_Mutation_p.Q421K|HDAC6_uc011mmk.1_Missense_Mutation_p.Q402K|HDAC6_uc004dkv.1_Missense_Mutation_p.Q69K|HDAC6_uc004dkw.1_Missense_Mutation_p.Q69K	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	421					Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CTGCAGTGCCCAGGCTTCAGT	0.617000													23	88					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34400456	34400456	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr10:34400456C>G	uc010qej.2	-	24	4042	c.3712G>C	c.(3712-3714)Gac>Cac	p.D1238H	PARD3_uc010qep.2_Missense_Mutation_p.D1148H|PARD3_uc010qeq.2_Missense_Mutation_p.D1126H|PARD3_uc010qek.2_Missense_Mutation_p.D1235H|PARD3_uc010qel.2_Missense_Mutation_p.D1201H|PARD3_uc010qem.2_Missense_Mutation_p.D1222H|PARD3_uc010qen.2_Missense_Mutation_p.D1192H|PARD3_uc010qeo.2_Missense_Mutation_p.D1155H	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	1238					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCCCAAGAGTCCTGGGAGACC	0.567000													32	51					0	0	1	0	0
RCN2	5955	broad.mit.edu	37	15	77224706	77224706	+	Missense_Mutation	SNP	A	A	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr15:77224706A>C	uc002bcd.3	+	1	370	c.149A>C	c.(148-150)gAt>gCt	p.D50A		NM_002902	NP_002893	Q14257	RCN2_HUMAN	Homo sapiens reticulocalbin 2, EF-hand calcium binding domain (RCN2), mRNA.	50						endoplasmic reticulum lumen	calcium ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						CTAAAGGAAGATGTGGATGAA	0.473000													15	7					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212812	26212812	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:26212812G>A	uc022buc.1	+	0	849	c.849G>A	c.(847-849)ccG>ccA	p.P283P	MAGEB6_uc004dbr.3_Silent_p.P283P	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	283	MAGE.							p.P283S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATGCGCTGCCGAAGTCGGGTC	0.527000													30	271					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													3	8					0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108627055	108627055	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:108627055T>G	uc002tdv.3	+	8	1757	c.1481T>G	c.(1480-1482)aTc>aGc	p.I494S	SLC5A7_uc010ywm.2_Missense_Mutation_p.I247S|SLC5A7_uc010fjj.3_Missense_Mutation_p.I494S|SLC5A7_uc010ywn.2_Missense_Mutation_p.I381S	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	494					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AACATTTGCATCTCCTATCTA	0.353000													8	22					0	0	1	0	0
PIGC	5279	broad.mit.edu	37	1	172411608	172411608	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:172411608A>T	uc021pey.1	-	0	155	c.155T>A	c.(154-156)gTa>gAa	p.V52E	PIGC_uc001gii.1_Intron|C1orf105_uc001gik.3_Intron|PIGC_uc001gin.3_Missense_Mutation_p.V52E|PIGC_uc001gio.3_Missense_Mutation_p.V52E	NM_153747	NP_714969	Q92535	PIGC_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class C (PIGC), transcript variant 1, mRNA.	52					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GGACTCAAATACCACAGCCCA	0.493000													53	273					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166896409	166896409	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:166896409C>G	uc001gdx.2	-	6	945	c.889G>C	c.(889-891)Ggt>Cgt	p.G297R		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	297						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						ATCCGGTAACCTTTGCGAACT	0.448000													5	177					0	0	1	0	0
KIAA0146	23514	broad.mit.edu	37	8	48614536	48614536	+	Missense_Mutation	SNP	C	C	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:48614536C>G	uc003xqd.3	+	13	1998	c.1936C>G	c.(1936-1938)Cgt>Ggt	p.R646G	KIAA0146_uc011ldb.2_Missense_Mutation_p.R646G|KIAA0146_uc010lxs.3_Missense_Mutation_p.R121G|KIAA0146_uc011ldc.2_Missense_Mutation_p.R576G|KIAA0146_uc011ldd.2_Missense_Mutation_p.R586G|KIAA0146_uc003xqe.3_Missense_Mutation_p.R121G|KIAA0146_uc003xqf.3_Non-coding_Transcript|KIAA0146_uc011lde.1_Missense_Mutation_p.R335G|KIAA0146_uc010lxt.3_Missense_Mutation_p.R335G|KIAA0146_uc011ldf.2_Missense_Mutation_p.R151G|KIAA0146_uc011ldg.2_Missense_Mutation_p.R136G	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	Homo sapiens KIAA0146 (KIAA0146), mRNA.	646										central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Lung NSC(58;0.175)				TCTTGGTACCCGTTGCAGTTT	0.423000													13	73					0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231954196	231954196	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:231954196G>C	uc010pxh.2	+	9	2063	c.2010G>C	c.(2008-2010)aaG>aaC	p.K670N	DISC1_uc010pwj.1_Missense_Mutation_p.K627N|DISC1_uc010pwk.1_3'UTR|DISC1_uc010pwg.1_Missense_Mutation_p.K627N|DISC1_uc010pwh.1_Missense_Mutation_p.K593N|DISC1_uc010pwi.1_Missense_Mutation_p.K593N|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwr.1_Missense_Mutation_p.K638N|DISC1_uc010pws.1_3'UTR|DISC1_uc010pwt.1_3'UTR|DISC1_uc010pwu.1_3'UTR|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.K638N|DISC1_uc001huy.3_Missense_Mutation_p.K638N|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.K638N|DISC1_uc010pxc.1_Intron|DISC1_uc010pxe.2_Missense_Mutation_p.K638N|DISC1_uc010pxf.2_Missense_Mutation_p.K638N|DISC1_uc010pxg.2_Intron|DISC1_uc010pxd.2_Missense_Mutation_p.K283N|DISC1_uc009xfr.3_Missense_Mutation_p.K593N|DISC1_uc010pxn.1_Missense_Mutation_p.K283N|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Missense_Mutation_p.K283N|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.K516N|DISC1_uc001huz.3_Missense_Mutation_p.K638N|DISC1_uc001hva.3_Missense_Mutation_p.K638N|DISC2_uc001hvd.3_Non-coding_Transcript	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	638	Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATGTCAAAAAGCTGGGAAGTG	0.478000													34	136					0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102760563	102760563	+	Silent	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:102760563C>T	uc011klj.1	-	2	700	c.621G>A	c.(619-621)acG>acA	p.T207T	NAPEPLD_uc003vbd.2_Silent_p.T134T|NAPEPLD_uc003vbc.2_Silent_p.T134T|NAPEPLD_uc003vbe.2_Non-coding_Transcript	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	134					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCACCATTACCGTGGCATGTC	0.478000													52	63					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9074741	9074741	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:9074741G>T	uc001mhi.2	-	11	1427	c.1352C>A	c.(1351-1353)aCa>aAa	p.T451K	SCUBE2_uc021qdk.1_5'Flank|SCUBE2_uc001mhj.2_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	451						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TGACACACTTGTGGGCAGGAG	0.532000													34	5					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71653747	71653747	+	Missense_Mutation	SNP	A	A	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:71653747A>T	uc002shx.3	+	23	5071	c.4748A>T	c.(4747-4749)aAg>aTg	p.K1583M	ZNF638_uc002shz.3_Missense_Mutation_p.K1583M|ZNF638_uc002shy.3_Missense_Mutation_p.K1583M|ZNF638_uc002sia.3_Missense_Mutation_p.K1583M|ZNF638_uc002sib.1_3'UTR|ZNF638_uc002sic.3_Missense_Mutation_p.K680M|ZNF638_uc002sid.3_5'UTR	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1583	Poly-Lys.				RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGAAGAAAAAGGGGAAAACT	0.418000													10	44					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90432736	90432736	+	Missense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:90432736G>C	uc003pnn.1	-	39	6021	c.5905C>G	c.(5905-5907)Cct>Gct	p.P1969A		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1969					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCTGACCAGGATCATAACAC	0.468000													34	247					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139824130	139824130	+	Missense_Mutation	SNP	G	G	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:139824130G>T	uc003yvd.3	-	8	1808	c.1361C>A	c.(1360-1362)cCa>cAa	p.P454Q		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	454	Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGTGGGGGTGGAGGTGGAGG	0.597000										HNSCC(7;0.00092)			11	9					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52715982	52715982	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:52715982C>T	uc002pyp.3	+	4	842	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	PPP2R1A_uc010ydk.2_Missense_Mutation_p.R128W|PPP2R1A_uc010epm.1_Missense_Mutation_p.R223W|PPP2R1A_uc002pyq.3_Missense_Mutation_p.R4W	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	183	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.R183W(44)|p.R183Q(10)|p.R182W(5)|p.R183G(4)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CATGGTGCGGCGGGCCGCAGC	0.617000			Mis		clear cell ovarian carcinoma								59	41					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25585840	25585840	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr18:25585840C>A	uc002kwg.2	-	5	1279	c.820G>T	c.(820-822)Ggg>Tgg	p.G274W	CDH2_uc010xbn.1_Missense_Mutation_p.G243W	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	274	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGAACTGTCCCATTCCAAACC	0.388000													28	106					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49142813	49142813	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chrX:49142813C>T	uc004dnh.2	+	3	1688	c.1661C>T	c.(1660-1662)aCg>aTg	p.T554M	PPP1R3F_uc004dni.3_Missense_Mutation_p.T208M|PPP1R3F_uc011mnd.2_Missense_Mutation_p.T225M|PPP1R3F_uc004dnj.2_Missense_Mutation_p.T208M	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	554						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GAGGAGATCACGCTGCACTAT	0.647000													38	15					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955417	141955417	+	Missense_Mutation	SNP	C	C	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:141955417C>A	uc003vxb.3	-	1	437	c.117G>T	c.(115-117)ttG>ttT	p.L39F	PRSS58_uc003vxc.4_Missense_Mutation_p.L39F	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	39	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CAGCGCAGGGCAAGTAGTCAG	0.483000													25	70					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117068960	117068960	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:117068960T>G	uc011lxl.2	+	57	5099	c.5099T>G	c.(5098-5100)aTg>aGg	p.M1700R	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_5'Flank	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1700	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GAGCAGAAGATGGTGGATGGT	0.607000											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	39					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152331526	152331526	+	Missense_Mutation	SNP	T	T	G			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr2:152331526T>G	uc002txm.3	+	35	7521	c.7360T>G	c.(7360-7362)Tct>Gct	p.S2454A	RIF1_uc002txn.3_Missense_Mutation_p.S2428A|RIF1_uc002txl.3_Missense_Mutation_p.S2428A|RIF1_uc002txo.3_Missense_Mutation_p.S2428A|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2454	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATGGCAAACTCTGTAATAAA	0.343000													4	25					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581487	40581487	+	Missense_Mutation	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:40581487G>A	uc010xvh.2	-	5	1013	c.865C>T	c.(865-867)Cgt>Tgt	p.R289C	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.R288C|ZNF780A_uc002omz.3_Missense_Mutation_p.R288C	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R254C(1)|p.R289C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTGCACCACGATTAAAGCCT	0.388000													78	128					0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207499029	207499029	+	Silent	SNP	T	T	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:207499029T>C	uc001hfq.4	+	3	835	c.541T>C	c.(541-543)Tta>Cta	p.L181L	CD55_uc001hfr.4_Silent_p.L181L|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Silent_p.L117L|CD55_uc009xce.3_Silent_p.L181L	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	181	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	AGGTGGCATATTATTTGGTGC	0.343000													18	53					0	0	1	0	0
GDF6	392255	broad.mit.edu	37	8	97172606	97172606	+	Nonsense_Mutation	SNP	G	G	C			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:97172606G>C	uc003yhp.3	-	0	415	c.315C>G	c.(313-315)taC>taG	p.Y105*		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	105					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CAGCGATGGAGTAAGTCCTGT	0.597000													56	199					0	0	1	0	0
C19orf59	199675	broad.mit.edu	37	19	7743070	7743070	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:7743070C>T	uc002mhh.1	+	2	290	c.265C>T	c.(265-267)Ctc>Ttc	p.L89F	TRAPPC5_uc002mhi.1_5'Flank|TRAPPC5_uc002mhj.1_5'Flank|TRAPPC5_uc002mhk.1_5'Flank	NM_174918	NP_777578	Q8IX19	MCEM1_HUMAN	Homo sapiens chromosome 19 open reading frame 59 (C19orf59), mRNA.	89						integral to membrane				endometrium(1)|lung(2)|skin(1)|stomach(1)	5						CCTGTACATCCTCCTGGCCCT	0.592000											OREG0025208	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	189					0	0	1	0	0
LOC728989	728989	broad.mit.edu	37	1	146494538	146494538	+	Missense_Mutation	SNP	G	G	A	rs141949470	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:146494538G>A	uc001epd.2	-	3	535	c.461C>T	c.(460-462)gCg>gTg	p.A154V						Homo sapiens phosphodiesterase 4D interacting protein pseudogene (LOC728989), non-coding RNA.																		TGGCAGGGCCGCTCTCCAGAA	0.572000													4	55					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505081	159505081	+	Silent	SNP	G	G	A			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:159505081G>A	uc010piw.2	-	0	717	c.717C>T	c.(715-717)acC>acT	p.T239T		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGGAGACACAGGTGGCAAAGG	0.478000													6	130					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949585	27949585	+	Missense_Mutation	SNP	C	C	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:27949585C>T	uc003zqv.1	-	6	1735	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	LINGO2_uc010mjf.1_Missense_Mutation_p.R362H|LINGO2_uc003zqu.1_Missense_Mutation_p.R362H|LINGO2_uc022bfc.1_Missense_Mutation_p.R362H	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	362	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCAGAGAAGGCGGCAGTCACA	0.547000													33	6					0	0	1	0	0
LOC388692	388692	broad.mit.edu	37	1	149285546	149285547	+	RNA	INS	-	-	A	rs144216017	by1000genomes	TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:149285546_149285547insA	uc010pbf.1	+	0		c.6071_6072insA			LOC388692_uc001esg.4_5'Flank					Homo sapiens uncharacterized LOC388692 (LOC388692), non-coding RNA.																		ttctgtctctcaaaaaaaaTGC	0.525													5	6	---	---	---	---					
LOC388692	388692	broad.mit.edu	37	1	149287128	149287129	+	RNA	DEL	CT	CT	-	rs67979441		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:149287128_149287129delCT	uc010pbf.1	+	0		c.7653_7654delCT			LOC388692_uc001esg.4_5'Flank					Homo sapiens uncharacterized LOC388692 (LOC388692), non-coding RNA.																		GGGGACTGGCCTCTCTGCACGG	0.594													5	3	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842200	154842202	+	In_Frame_Del	DEL	GCT	GCT	-	rs58327065		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:154842200_154842202delGCT	uc021pah.1	-	0	553_555	c.239_241delAGC	c.(238-243)cagcca>cca	p.Q80del	KCNN3_uc001ffp.3_In_Frame_Del_p.Q80del|KCNN3_uc009wox.1_In_Frame_Del_p.Q80del	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(4)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGATGCGGTGgctgctgctgctg	0.700													7	30	---	---	---	---					
LYST	1130	broad.mit.edu	37	1	235955054	235955055	+	Frame_Shift_Ins	INS	-	-	TTTT			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr1:235955054_235955055insTTTT	uc001hxj.2	-	11	4662_4663	c.4487_4488insAAAA	c.(4486-4488)aagfs	p.K1496fs	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Intron|LYST_uc001hxl.1_Frame_Shift_Ins_p.K1496fs	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1496					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTTTCTTTATCTTCTTTCCTTT	0.361													80	53	---	---	---	---					
SLC10A6	345274	broad.mit.edu	37	4	87769940	87769941	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr4:87769940_87769941insT	uc003hqd.2	-	0	476_477	c.328_329insA	c.(328-330)accfs	p.T110fs		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	110						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GTTAGAGATGGTGCCCCCCGGG	0.515													61	33	---	---	---	---					
AKAP12	9590	broad.mit.edu	37	6	151670243	151670244	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:151670243_151670244insT	uc011eep.2	+	3	957_958	c.717_718insT	c.(715-720)cccgaafs	p.P239fs	AKAP12_uc003qoe.3_Frame_Shift_Ins_p.P239fs|AKAP12_uc003qof.3_Frame_Shift_Ins_p.P141fs|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Frame_Shift_Ins_p.P134fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	239					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.E240K(4)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGAGAAACCCGAAGAGACCCT	0.559													25	245	---	---	---	---					
MAP3K4	4216	broad.mit.edu	37	6	161507690	161507691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr6:161507690_161507691insT	uc003qtn.3	+	8	2689_2690	c.2547_2548insT	c.(2545-2550)cagtatfs	p.Q849fs	MAP3K4_uc010kkc.1_Frame_Shift_Ins_p.Q849fs|MAP3K4_uc003qto.3_Frame_Shift_Ins_p.Q849fs|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Frame_Shift_Ins_p.Q302fs	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	849					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AATCAAAACAGTATGTCAAGGT	0.381													19	29	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr7:131241030_131241035delGGCGAC	uc003vqw.4	-	0	342_347	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_uc003vqx.4_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(4)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													5	7	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100887728	100887728	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr8:100887728delC	uc003yiv.3	+	61	12014	c.11903delC	c.(11902-11904)gccfs	p.A3968fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.A3943fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3968					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGTCACCTGGCCCCCAGCTGT	0.478													29	123	---	---	---	---					
WNK2	65268	broad.mit.edu	37	9	96021235	96021245	+	Frame_Shift_Del	DEL	CCCCCATCACG	CCCCCATCACG	-	rs149576658		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:96021235_96021245delCCCCCATCACG	uc004ati.1	+	10	2405_2415	c.2405_2415delCCCCCATCACG	c.(2404-2415)ccccccatcacgfs	p.P802fs	WNK2_uc011lud.1_Frame_Shift_Del_p.P802fs|WNK2_uc004atj.3_Frame_Shift_Del_p.P802fs|WNK2_uc004atk.3_Frame_Shift_Del_p.P439fs|WNK2_uc010mrc.1_Frame_Shift_Del_p.P750fs	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	802					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGTTGTGCCCCCCATCACGCCCCTGGCGG	0.649													13	33	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr9:100616701_100616706delGCCGCC	uc004axu.3	+	0	1165_1170	c.505_510delGCCGCC	c.(505-510)gccgccdel	p.AA177del		NM_004473	NP_004464	O00358	FOXE1_HUMAN	Homo sapiens forkhead box E1 (thyroid transcription factor 2) (FOXE1), mRNA.	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													9	16	---	---	---	---					
AX747192	0	broad.mit.edu	37	11	63997567	63997567	+	Frame_Shift_Del	DEL	A	A	-	rs11364788		TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr11:63997567delA	uc001nyr.1	-	0	1194	c.762delT	c.(760-762)tttfs	p.F254fs	DNAJC4_uc001nys.3_5'Flank|DNAJC4_uc001nyt.3_5'Flank|DNAJC4_uc001nyu.3_5'Flank					Homo sapiens cDNA FLJ34477 fis, clone HLUNG2003833.																		GTGACTTGGGAAAAAAAAAAA	0.498													4	8	---	---	---	---					
SYMPK	8189	broad.mit.edu	37	19	46320139	46320139	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:46320139delG	uc002pdn.3	-	23	3420	c.3175delC	c.(3175-3177)cagfs	p.Q1059fs	RSPH6A_uc002pdm.3_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	1059					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCCAGCTGCTGGGGCGGCAGC	0.652											OREG0025562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
PLEKHA4	57664	broad.mit.edu	37	19	49362194	49362200	+	Frame_Shift_Del	DEL	GGCGGGG	GGCGGGG	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr19:49362194_49362200delGGCGGGG	uc002pkx.3	-	7	1440_1446	c.889_895delCCCCGCC	c.(889-897)ccccgccgafs	p.P297fs	PLEKHA4_uc010eml.3_Frame_Shift_Del_p.P297fs	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	297	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GGAGGTCCTCGGCGGGGAGTAGGGGGT	0.662													29	103	---	---	---	---					
ESF1	51575	broad.mit.edu	37	20	13695536	13695537	+	Frame_Shift_Ins	INS	-	-	T			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr20:13695536_13695537insT	uc002woj.3	-	13	2648_2649	c.2540_2541insA	c.(2539-2541)aagfs	p.K847fs		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	847	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TGACTTTTTGCTTTTTTCTTGC	0.302													24	13	---	---	---	---					
LTN1	26046	broad.mit.edu	37	21	30302792	30302799	+	Frame_Shift_Del	DEL	AGTGGACA	AGTGGACA	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr21:30302792_30302799delAGTGGACA	uc002ymr.2	-	29	5423_5430	c.5410_5417delTGTCCACT	c.(5410-5418)tgtccactgfs	p.C1804fs		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1758							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						CTCACGACACAGTGGACAAGTGGATTTG	0.361													22	58	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-NF-A4X2-01A-11D-A28R-08	TCGA-NF-A4X2-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e231bc3f-bb82-4de8-8003-6d37dc799332	cfbc4df1-a359-4e3b-bb47-af77647ca523	g.chr22:20918793_20918795delCAG	uc002zsp.3	+	5	588_590	c.508_510delCAG	c.(508-510)cagdel	p.Q174del	MED15_uc002zsn.1_In_Frame_Del_p.Q93del|MED15_uc002zso.2_In_Frame_Del_p.Q103del|MED15_uc002zsq.3_In_Frame_Del_p.Q174del|MED15_uc010gso.3_In_Frame_Del_p.Q174del|MED15_uc002zsr.3_In_Frame_Del_p.Q148del|MED15_uc011ahs.2_In_Frame_Del_p.Q148del|MED15_uc011aht.1_In_Frame_Del_p.Q148del|MED15_uc002zss.3_In_Frame_Del_p.Q93del|MED15_uc011ahu.2_5'Flank	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	174	Poly-Gln.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	98	---	---	---	---					
