Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
CYP1A1_chr15_74714542_74730528	74715766	TATATATA others(8): Show TATATATAATATATCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	432	0.0023	-15	c.47 others(26): Show c.4708_*4722delCGATATATTATATAT		CYP1A1	ENSG00000140465.15	transcript	ENST00000379727.8	protein_coding				3775		chr15	TogoVar
CYP24A1_chr20_54148446_54178986	54154939	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00639.hp1 others(7): Show HG00280.hp1 HG00323.hp2 HG00639.hp1 HG00741.hp2 HG02683.hp1 HG03098.hp1 HG03239.hp2 NA18951.hp2 NA18957.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0005 others(1): Show a0001c0003 a0001c0004 a0001c0005 a0002c0012	a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0002c0012t0024	a0001c0003t0001g0004 a0001c0004t0001g0304 a0001c0004t0001g0348 others(3): Show a0001c0003t0001g0004 a0001c0004t0001g0304 a0001c0004t0001g0348 a0001c0005t0001g0247 a0001c0005t0001g0285 a0002c0012t0024g0123	10	37	0.2703	-15	c.11 others(30): Show c.11-193_*11-179delTTTTTTTTTTTTTTT		CYP24A1	ENSG00000019186.10	transcript	ENST00000216862.8	protein_coding	11/11					chr20	TogoVar
CYP24A1_chr20_54148446_54178986	54176227	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	301	0.0033	-15	c.-26 others(26): Show c.-2663_-2649delTTTTTTTTTTTTTTT		CYP24A1	ENSG00000019186.10	transcript	ENST00000216862.8	protein_coding				2242		chr20	TogoVar
CYP27A1_chr2_218777147_218820293	218778348	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00741.hp2 HG01109.hp1 others(17): Show HG00733.hp1 HG00741.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG02257.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp2 HG03017.hp2 HG03130.hp2 HG03516.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18940.hp1 NA19087.hp1 NA19090.hp2 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0001 a0001c0001t0001 a0007c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0001g0155 a0001c0001t0001g0156 a0007c0009t0001g0072	20	32	0.6250	-15	c.-38 others(26): Show c.-3834_-3820delTTTTTTTTTTTTTTT		CYP27A1	ENSG00000135929.9	transcript	ENST00000258415.9	protein_coding				3798		chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127186369	CATTTTAT others(8): Show CATTTTATTTTATTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02896.hp1 HG06807.hp2 HG02109.hp1 HG02896.hp1 HG06807.hp2	a0003 a0008 a0003 a0008	a0003c0006 a0008c0015 a0003c0006 a0008c0015	a0003c0006t0017 a0008c0015t0017 a0003c0006t0017 a0008c0015t0017	a0003c0006t0017g0030 a0003c0006t0017g0032 a0008c0015t0017g0303 a0003c0006t0017g0030 a0003c0006t0017g0032 a0008c0015t0017g0303	3	154	0.0195	-15	c.88 others(24): Show c.887_*901delAAAATAAAATAAAAT		CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	9/9			887		chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127211361	GTTTTTTT others(8): Show GTTTTTTTGTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	254	0.0039	-15	c.283 others(32): Show c.283-5286_283-5272delAAAAAAACAAAAAAA		CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	1/8					chr2	TogoVar
CYP2B6_chr19_40986282_41023398	41016399	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0118 a0002c0002t0026g0118	1	101	0.0099	-15	c.129 others(32): Show c.1295-226_1295-212delAAAAAAAAAAAAAAA		CYP2B6	ENSG00000197408.10	transcript	ENST00000324071.10	protein_coding	8/8				INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2E1_chr10_133522363_133544123	133542660	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02922.hp2 HG02257.hp1 HG02922.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0012 a0002c0004t0003g0041 a0002c0004t0003g0012 a0002c0004t0003g0041	2	397	0.0050	-15	c.36 others(26): Show c.3697_*3711delTTCTTTCTTTCTTTC		CYP2E1	ENSG00000130649.10	transcript	ENST00000252945.8	protein_coding				3538		chr10	TogoVar
CYP2J2_chr1_59888308_59931773	59907394	GAGGTTAA others(8): Show GAGGTTAACATATACC	G G	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0164 a0006c0015t0001g0164	1	362	0.0028	-15	c.100 others(32): Show c.1003+377_1003+391delGGTATATGTTAACCT		CYP2J2	ENSG00000134716.11	transcript	ENST00000371204.4	protein_coding	6/8					chr1	TogoVar
CYP2S1_chr19_41188219_41212539	41195523	GGAGGGGT others(8): Show GGAGGGGTCAGGGCAA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	420	0.0024	-15	c.343 others(30): Show c.343+828_343+842delAAGAGGGGTCAGGGC		CYP2S1	ENSG00000167600.14	transcript	ENST00000310054.9	protein_coding	2/8				INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2S1_chr19_41188219_41212539	41211287	TTTTAAAT others(8): Show TTTTAAATAATAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	420	0.0024	-15	c.48 others(26): Show c.4800_*4814delTTTAAATAATAAAAA		CYP2S1	ENSG00000167600.14	transcript	ENST00000310054.9	protein_coding				3749		chr19	TogoVar
CYP2W1_chr7_978181_994640	994097	CAATGTGA others(8): Show CAATGTGATTCTGACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0002 a0002c0003t0001g0002	1	405	0.0025	-15	c.52 others(26): Show c.5276_*5290delAATGTGATTCTGACT		CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding				4458		chr7	TogoVar
CYP39A1_chr6_46544580_46657818	46557783	AAAAATTA others(8): Show AAAAATTAGCCAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	308	0.0032	-15	c.125 others(34): Show c.1251-3944_1251-3930delCACCTGGCTAATTTT		CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	10/11					chr6	TogoVar
CYP39A1_chr6_46544580_46657818	46616148	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00735.hp1 others(27): Show HG00597.hp1 HG00609.hp2 HG00735.hp1 HG01192.hp1 HG01255.hp2 HG01346.hp1 HG01975.hp1 HG01975.hp2 HG02109.hp2 HG02145.hp1 HG02523.hp1 HG02615.hp2 HG02647.hp2 HG02698.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03491.hp2 HG03834.hp2 NA18945.hp1 NA18962.hp2 NA18995.hp1 NA19054.hp1 NA19054.hp2 NA19070.hp2 NA19074.hp1 NA19083.hp2 NA19085.hp1 NA20752.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0007c0007	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(7): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0003c0003t0002 a0004c0004t0001 a0005c0005t0001 a0006c0006t0001 a0007c0007t0001 a0007c0007t0002	a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0179 others(26): Show a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0179 a0002c0002t0001g0131 a0002c0002t0001g0135 a0002c0002t0001g0159 a0002c0002t0002g0100 a0002c0002t0002g0114 a0002c0002t0002g0118 a0002c0002t0002g0129 a0002c0002t0002g0144 a0002c0002t0002g0149 a0002c0002t0002g0162 a0002c0002t0002g0207 a0002c0002t0002g0236 a0002c0002t0002g0254 a0002c0002t0002g0295 a0002c0002t0002g0300 a0002c0002t0004g0304 a0003c0003t0002g0213 a0004c0004t0001g0023 a0005c0005t0001g0266 a0005c0005t0001g0276 a0005c0005t0001g0277 a0005c0005t0001g0280 a0006c0006t0001g0001 a0007c0007t0001g0007 a0007c0007t0001g0039 a0007c0007t0002g0037	30	308	0.0974	-15	c.931 others(32): Show c.931+9255_931+9269delAAAGAAAGAAAGAAA		CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	7/11					chr6	TogoVar
CYP39A1_chr6_46544580_46657818	46655535	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG03540.hp1 NA19030.hp1 others(1): Show HG02615.hp1 HG03540.hp1 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 others(1): Show a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0002c0002t0002g0191	4	159	0.0252	-15	c.-29 others(26): Show c.-2968_-2954delAAAAAAAAAAAAAAA		CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding				2718		chr6	TogoVar
CYP3A43_chr7_99823013_99871093	99858660	GTATTATT others(8): Show GTATTATTATTATTAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(41): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01358.hp1 HG01934.hp2 HG02056.hp1 HG02080.hp2 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02717.hp1 HG02735.hp1 HG03041.hp2 HG03453.hp2 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18942.hp2 NA18951.hp1 NA18954.hp1 NA18964.hp1 NA18977.hp2 NA18983.hp2 NA18986.hp1 NA18992.hp2 NA18999.hp2 NA19004.hp1 NA19030.hp2 NA19065.hp1 NA19066.hp2 NA19240.hp2 NA20905.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0004c0007 a0007c0018	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0004c0007t0001 a0007c0018t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(26): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0105 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0003t0001g0043 a0001c0003t0001g0046 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0208 a0001c0003t0001g0218 a0001c0003t0001g0219 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0197 a0004c0007t0001g0213 a0007c0018t0001g0025	44	57	0.7719	-15	c.866 others(32): Show c.866-1135_866-1121delATTATTATTATTATT		CYP3A43	ENSG00000021461.18	transcript	ENST00000354829.7	protein_coding	9/12				INFO_REALIGN_3_PRIME	chr7	TogoVar
CYP3A4_chr7_99751967_99789184	99765464	GGATAGAT others(8): Show GGATAGATGATAGATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp1 NA18906.hp2 HG02451.hp2 HG03225.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0004 a0004c0005t0004 a0001c0001t0004 a0004c0005t0004	a0001c0001t0004g0159 a0004c0005t0004g0049 a0004c0005t0004g0050 a0001c0001t0004g0159 a0004c0005t0004g0049 a0004c0005t0004g0050	3	300	0.0100	-15	c.865 others(30): Show c.865+898_865+912delTATCTATCATCTATC		CYP3A4	ENSG00000160868.16	transcript	ENST00000651514.1	protein_coding	9/12					chr7	TogoVar
CYP46A1_chr14_99679298_99732301	99695604	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	31	0.0323	-15	c.282 others(32): Show c.282+3770_282+3784delATTATTATTATTATT		CYP46A1	ENSG00000036530.9	transcript	ENST00000261835.8	protein_coding	3/14				INFO_REALIGN_3_PRIME	chr14	TogoVar
CYP4F12_chr19_15668087_15702174	15678791	TTTTTAAG others(8): Show TTTTTAAGTGTGGGGC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0212 a0010c0015t0001g0212	1	408	0.0025	-15	c.343 others(30): Show c.343+387_343+401delTTTTAAGTGTGGGGC		CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	3/12					chr19	TogoVar
CYP4F22_chr19_15503525_15557317	15528172	GCTGGGCA others(8): Show GCTGGGCACAGTGGCT	G G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA19082.hp2 NA18948.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0043 a0001c0001t0001g0044	2	382	0.0052	-15	c.223 others(32): Show c.223-1535_223-1521delTGGGCACAGTGGCTC		CYP4F22	ENSG00000171954.13	transcript	ENST00000269703.8	protein_coding	3/13				INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15656509	CTATCTAT others(8): Show CTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp1 HG00733.hp1 others(41): Show HG00597.hp2 HG00673.hp1 HG00733.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp1 HG01346.hp2 HG01891.hp1 HG02055.hp2 HG02129.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG04115.hp1 HG04184.hp1 NA18951.hp2 NA18957.hp1 NA18979.hp1 NA18981.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA19011.hp1 NA19055.hp1 NA19070.hp2 NA19080.hp2 NA19084.hp2 NA19086.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0004c0008 a0005c0012 a0006c0009 a0007c0011	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(19): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0029 a0001c0001t0034 a0001c0001t0045 a0001c0001t0046 a0001c0001t0059 a0001c0001t0078 a0001c0002t0017 a0002c0003t0003 a0004c0008t0030 a0005c0012t0002 a0006c0009t0051 a0006c0009t0052 a0007c0011t0008	a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 others(40): Show a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0230 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0002g0268 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0006g0021 a0001c0001t0006g0214 a0001c0001t0006g0235 a0001c0001t0006g0302 a0001c0001t0008g0182 a0001c0001t0009g0172 a0001c0001t0009g0176 a0001c0001t0010g0165 a0001c0001t0010g0204 a0001c0001t0012g0184 a0001c0001t0013g0152 a0001c0001t0016g0166 a0001c0001t0016g0183 a0001c0001t0018g0203 a0001c0001t0029g0094 a0001c0001t0034g0018 a0001c0001t0045g0211 a0001c0001t0046g0021 a0001c0001t0059g0255 a0001c0001t0078g0282 a0001c0002t0017g0320 a0001c0002t0017g0331 a0002c0003t0003g0013 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0117 a0002c0003t0003g0126 a0002c0003t0003g0142 a0004c0008t0030g0144 a0005c0012t0002g0266 a0005c0012t0002g0272 a0006c0009t0051g0304 a0006c0009t0052g0305 a0007c0011t0008g0192	44	418	0.1053	-15	c.111 others(34): Show c.1116-1753_1116-1739delATCTATCTATCTATT		CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	9/12				INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4V2_chr4_186186567_186218463	186201150	CATACAGG others(8): Show CATACAGGTCATCGCT	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA18949.hp1 NA18949.hp1	a0013 a0013	a0013c0021 a0013c0021	a0013c0021t0013 a0013c0021t0013	a0013c0021t0013g0180 a0013c0021t0013g0180	1	320	0.0031	-15	c.802 others(24): Show c.802-6_810delATACAGGTCATCGCT	p.Val others(13): Show p.Val268_Glu271del	CYP4V2	ENSG00000145476.16	transcript	ENST00000378802.5	protein_coding	7/11	802/1578	268/525			chr4	TogoVar
CYP4V2_chr4_186186567_186218463	186207662	CTACCATT others(8): Show CTACCATTTTAAAATG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0142 a0001c0004t0006g0142	1	450	0.0022	-15	c.109 others(34): Show c.1091-1199_1091-1185delCATTTTAAAATGTAC		CYP4V2	ENSG00000145476.16	transcript	ENST00000378802.5	protein_coding	8/10				INFO_REALIGN_3_PRIME	chr4	TogoVar
CYP4Z1_chr1_47062231_47123318	47089528	CACCTAAT others(8): Show CACCTAATGGACGCAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00639.hp1 others(28): Show HG00280.hp2 HG00408.hp2 HG00639.hp1 HG01192.hp2 HG01243.hp1 HG02080.hp1 HG02132.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 NA18906.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA18995.hp2 NA19007.hp1 NA19043.hp1 NA19055.hp2 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19078.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 others(21): Show a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0002g0207 a0001c0001t0002g0208	31	316	0.0981	-15	c.772 others(32): Show c.772+4554_772+4568delTAATGGACGCAAACC		CYP4Z1	ENSG00000186160.5	transcript	ENST00000334194.4	protein_coding	6/11				INFO_REALIGN_3_PRIME	chr1	TogoVar
CYP7B1_chr8_64585851_64803737	64624951	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19075.hp2 NA19079.hp2 others(1): Show NA18988.hp1 NA19075.hp2 NA19079.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0025 a0001c0001t0001 a0001c0001t0017 a0001c0001t0025	a0001c0001t0001g0030 a0001c0001t0001g0222 a0001c0001t0017g0221 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0222 a0001c0001t0017g0221 a0001c0001t0025g0189	4	29	0.1379	-15	c.123 others(30): Show c.123-427_123-413delAAAAAAAAAAAAAAA		CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5					chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64762975	CCTCCCAC others(8): Show CCTCCCACTGTATGGG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	256	0.0039	-15	c.122 others(34): Show c.122+35476_122+35490delCCCATACAGTGGGAG		CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5					chr8	TogoVar
CYP7B1_chr8_64585851_64803737	64764682	GCAACTGC others(8): Show GCAACTGCTTTGCTAA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	256	0.0039	-15	c.122 others(34): Show c.122+33769_122+33783delTTAGCAAAGCAGTTG		CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5					chr8	TogoVar
CYRIB_chr8_129834593_130021560	129859403	GGTGGGCC others(8): Show GGTGGGCCTGACTAAT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	286	0.0035	-15	c.301 others(32): Show c.301+2811_301+2825delATTAGTCAGGCCCAC		CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	7/13					chr8	TogoVar
CYRIB_chr8_129834593_130021560	129877661	AAGGTGTG others(8): Show AAGGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	165	0.0061	-15	c.73+ others(30): Show c.73+1713_73+1727delCACACACACACACCT		CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	5/13					chr8	TogoVar
CYRIB_chr8_129834593_130021560	129991943	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0260 a0001c0001t0003g0260	1	81	0.0123	-15	c.-18 others(36): Show c.-189-20963_-189-20949delTTTTTTTTTTTTTTT		CYRIB	ENSG00000153310.22	transcript	ENST00000694912.1	protein_coding	1/13					chr8	TogoVar
CYSTM1_chr5_140170188_140248789	140170657	ACACACAC others(8): Show ACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 NA18964.hp2 NA19064.hp1 HG04228.hp2 NA18964.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0001g0245 a0001c0001t0001g0260 a0001c0001t0001g0265	3	221	0.0136	-15	c.-46 others(26): Show c.-4648_-4634delCACACACACACACAC		CYSTM1	ENSG00000120306.11	transcript	ENST00000261811.6	protein_coding				4530		chr5	TogoVar
CYTH1_chr17_78669048_78787273	78690393	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00639.hp2 others(49): Show HG00323.hp2 HG00544.hp2 HG00639.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01496.hp2 HG01516.hp1 HG01943.hp1 HG01952.hp2 HG02004.hp2 HG02083.hp1 HG02132.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02922.hp1 HG03453.hp2 HG03490.hp2 HG03669.hp2 HG03710.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA18943.hp2 NA18946.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18979.hp1 NA18980.hp2 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19062.hp1 NA19066.hp2 NA19068.hp1 NA19076.hp1 NA19087.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0026 others(49): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0110 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0075 a0001c0001t0003g0080 a0001c0001t0004g0063 a0001c0001t0012g0116 a0001c0001t0012g0117 a0001c0001t0027g0164 a0001c0001t0029g0115 a0001c0001t0030g0006	52	85	0.6118	-15	c.891 others(32): Show c.891+2009_891+2023delTTTTTTTTTTTTTTT		CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	11/13					chr17	TogoVar
CYTH4_chr22_37277508_37320341	37294221	AGGCAGGG others(8): Show AGGCAGGGTGGAGGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02074.hp1 HG00544.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0117 a0001c0001t0001g0022 a0001c0001t0001g0117	2	402	0.0050	-15	c.103 others(30): Show c.103-425_103-411delTGGGCAGGGTGGAGG		CYTH4	ENSG00000100055.21	transcript	ENST00000248901.11	protein_coding	2/12				INFO_REALIGN_3_PRIME	chr22	TogoVar
CZIB_chr1_53209099_53225634	53222214	CACACAGC others(8): Show CACACAGCCTAGTGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	434	0.0023	-15	c.-16 others(26): Show c.-1654_-1640delCTCACTAGGCTGTGT		CZIB	ENSG00000162384.14	transcript	ENST00000294360.5	protein_coding				1581		chr1	TogoVar
DAAM1_chr14_59183667_59376403	59248306	ATGTTTTG others(8): Show ATGTTTTGTTTTGTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(40): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00642.hp2 HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02683.hp1 HG02738.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18940.hp2 NA18974.hp2 NA18984.hp2 NA18986.hp1 NA19002.hp1 NA19056.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA20129.hp1 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0049 a0001c0002t0001 a0001c0002t0002 others(14): Show a0001c0001t0049 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0013 a0001c0002t0016 a0001c0002t0020 a0001c0002t0026 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0042 a0001c0002t0057	a0001c0001t0049g0258 a0001c0002t0001g0171 a0001c0002t0002g0140 others(40): Show a0001c0001t0049g0258 a0001c0002t0001g0171 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0294 a0001c0002t0003g0137 a0001c0002t0004g0051 a0001c0002t0004g0146 a0001c0002t0004g0150 a0001c0002t0004g0153 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0167 a0001c0002t0004g0172 a0001c0002t0004g0174 a0001c0002t0005g0135 a0001c0002t0005g0136 a0001c0002t0005g0138 a0001c0002t0013g0147 a0001c0002t0013g0148 a0001c0002t0013g0168 a0001c0002t0013g0170 a0001c0002t0013g0173 a0001c0002t0016g0152 a0001c0002t0016g0160 a0001c0002t0016g0162 a0001c0002t0016g0165 a0001c0002t0020g0263 a0001c0002t0020g0264 a0001c0002t0026g0151 a0001c0002t0026g0154 a0001c0002t0035g0149 a0001c0002t0036g0166 a0001c0002t0037g0169 a0001c0002t0038g0161 a0001c0002t0039g0164 a0001c0002t0042g0134 a0001c0002t0057g0030	43	53	0.8113	-15	c.-37 others(34): Show c.-37-15099_-37-15085delTGTTTTGTTTTGTTT		DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	1/24				INFO_REALIGN_3_PRIME	chr14	TogoVar
DAAM2_chr6_39787376_39909869	39825384	TAAAACAA others(8): Show TAAAACAAAACAAAAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp1 HG01891.hp2 others(9): Show HG00741.hp2 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp2 HG02630.hp2 HG02976.hp2 HG03041.hp1 NA18522.hp1 NA18522.hp2 NA18954.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0026	a0001c0001t0001 a0001c0001t0019 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0019 a0001c0002t0002 a0001c0004t0004 a0001c0006t0001 a0001c0008t0005 a0001c0026t0001	a0001c0001t0001g0040 a0001c0001t0001g0280 a0001c0001t0001g0281 others(9): Show a0001c0001t0001g0040 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0019g0051 a0001c0002t0002g0180 a0001c0004t0004g0172 a0001c0006t0001g0033 a0001c0006t0001g0153 a0001c0006t0001g0159 a0001c0008t0005g0167 a0001c0008t0005g0278 a0001c0026t0001g0279	12	163	0.0736	-15	c.-56 others(34): Show c.-56-30831_-56-30817delAAACAAAACAAAACA		DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding	1/24				INFO_REALIGN_3_PRIME	chr6	TogoVar
DAB1_chr1_56989778_57429060	57100306	TGTTTTTC others(8): Show TGTTTTTCAGATATTA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01192.hp2 HG01243.hp2 others(16): Show HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01884.hp1 HG01884.hp2 HG01981.hp2 HG02055.hp2 HG02258.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0021 a0001c0003t0010	a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0071 others(16): Show a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0071 a0001c0001t0001g0109 a0001c0001t0001g0127 a0001c0001t0002g0018 a0001c0001t0002g0113 a0001c0001t0002g0138 a0001c0001t0003g0034 a0001c0001t0003g0121 a0001c0001t0005g0031 a0001c0001t0005g0035 a0001c0001t0005g0116 a0001c0001t0006g0106 a0001c0001t0007g0084 a0001c0001t0007g0137 a0001c0001t0011g0077 a0001c0001t0021g0051 a0001c0003t0010g0128	19	136	0.1397	-15	c.307 others(34): Show c.307-27907_307-27893delTAATATCTGAAAAAC		DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	4/14					chr1	TogoVar
DAB1_chr1_56989778_57429060	57337873	CTCCCCTC others(8): Show CTCCCCTCCCTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00738.hp1 others(28): Show HG00280.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02451.hp2 HG02602.hp2 HG02647.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03710.hp2 NA18906.hp1 NA19002.hp2 NA19030.hp2 NA19066.hp2 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0002c0002t0003 a0004c0006t0001	a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0064 others(28): Show a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0002g0001 a0001c0001t0002g0069 a0001c0001t0002g0096 a0001c0001t0002g0105 a0001c0001t0003g0097 a0001c0001t0003g0101 a0001c0001t0004g0019 a0001c0001t0004g0053 a0001c0001t0005g0116 a0001c0001t0006g0062 a0001c0001t0006g0070 a0001c0001t0007g0137 a0001c0001t0008g0131 a0001c0001t0011g0061 a0002c0002t0003g0107 a0004c0006t0001g0010	31	123	0.2520	-15	c.-13 others(36): Show c.-136-46722_-136-46708delAGGGAAGGGAGGGGA		DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14					chr1	TogoVar
DAB1_chr1_56989778_57429060	57367043	CAAAATAA others(8): Show CAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00642.hp1 others(26): Show HG00280.hp1 HG00639.hp2 HG00642.hp1 HG01069.hp1 HG01081.hp1 HG01255.hp1 HG01261.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02897.hp1 HG03098.hp1 HG03195.hp1 HG03486.hp1 HG03540.hp2 HG03710.hp1 HG06807.hp1 NA18983.hp1 NA19066.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0018 a0001c0003t0010	a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0028 others(26): Show a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0110 a0001c0001t0003g0034 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0057 a0001c0001t0004g0022 a0001c0001t0005g0021 a0001c0001t0005g0035 a0001c0001t0005g0086 a0001c0001t0007g0084 a0001c0001t0014g0124 a0001c0001t0018g0024 a0001c0003t0010g0073	29	44	0.6591	-15	c.-13 others(36): Show c.-137+56872_-137+56886delATTTTATTTTATTTT		DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14					chr1	TogoVar
DAB1_chr1_56989778_57429060	57421892	TGGGGGGT others(8): Show TGGGGGGTGGCGGGGG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0024 a0001c0001t0018g0024	1	136	0.0074	-15	c.-13 others(34): Show c.-137+2023_-137+2037delCCCCCGCCACCCCCC		DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14					chr1	TogoVar
DAB2_chr5_39366677_39429980	39429891	AGAGATGC others(8): Show AGAGATGCTGCTTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0214 a0001c0001t0008g0214	1	412	0.0024	-15	c.-52 others(26): Show c.-5204_-5190delGAAAAGCAGCATCTC		DAB2	ENSG00000153071.15	transcript	ENST00000320816.11	protein_coding				4912		chr5	TogoVar
DACH1_chr13_71432966_71872204	71654443	ATAAAATA others(8): Show ATAAAATAAAATAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02809.hp1 others(9): Show HG02257.hp1 HG02258.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03471.hp2 HG06807.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0003c0003t0003 a0003c0003t0005 a0005c0008t0001	a0001c0001t0001g0040 a0001c0001t0002g0016 a0001c0001t0003g0010 others(9): Show a0001c0001t0001g0040 a0001c0001t0002g0016 a0001c0001t0003g0010 a0001c0001t0003g0017 a0002c0002t0001g0072 a0002c0002t0001g0091 a0002c0002t0003g0063 a0002c0002t0003g0075 a0002c0002t0003g0095 a0003c0003t0003g0003 a0003c0003t0005g0004 a0005c0008t0001g0099	12	97	0.1237	-15	c.965 others(34): Show c.965-23741_965-23727delCTTTATTTTATTTTA		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	2/10					chr13	TogoVar
DACH1_chr13_71432966_71872204	71654458	GTAAAATA others(8): Show GTAAAATAAAATAAAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01433.hp1 HG01496.hp1 others(7): Show HG01109.hp1 HG01433.hp1 HG01496.hp1 HG01978.hp2 HG02004.hp1 HG02257.hp2 HG03209.hp2 NA18522.hp2 NA19043.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0006t0001 a0001c0006t0003 a0002c0002t0002 a0002c0002t0008 a0002c0011t0003	a0001c0001t0001g0042 a0001c0001t0002g0012 a0001c0001t0003g0013 others(7): Show a0001c0001t0001g0042 a0001c0001t0002g0012 a0001c0001t0003g0013 a0001c0001t0004g0018 a0001c0001t0004g0047 a0001c0006t0001g0057 a0001c0006t0003g0056 a0002c0002t0002g0068 a0002c0002t0008g0066 a0002c0011t0003g0080	10	73	0.1370	-15	c.965 others(34): Show c.965-23756_965-23742delTTTTATTTTATTTTA		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	2/10					chr13	TogoVar
DACH1_chr13_71432966_71872204	71738731	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	28	0.0357	-15	c.849 others(34): Show c.849-56836_849-56822delTTTTTTTTTTTTTTT		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10					chr13	TogoVar
DACH1_chr13_71432966_71872204	71748871	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01433.hp2 HG02258.hp1 others(1): Show HG00609.hp2 HG01433.hp2 HG02258.hp1 HG02486.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 a0004c0004t0014	a0001c0001t0001g0059 a0001c0001t0002g0039 a0004c0004t0001g0097 others(1): Show a0001c0001t0001g0059 a0001c0001t0002g0039 a0004c0004t0001g0097 a0004c0004t0014g0102	4	100	0.0400	-15	c.849 others(34): Show c.849-66976_849-66962delGAAAGAAAGAAAGAA		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10					chr13	TogoVar
DACH2_chrX_86143451_86837602	86268490	ATTTATTT others(8): Show ATTTATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00609.hp1 others(34): Show HG00280.hp1 HG00423.hp1 HG00609.hp1 HG00639.hp2 HG01258.hp1 HG01261.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02083.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02818.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03209.hp1 HG03486.hp1 HG04228.hp1 NA18950.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18971.hp1 NA19000.hp1 NA19043.hp1 NA19066.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0149 a0001c0001t0002g0027 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0108 a0001c0001t0002g0140 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0166 a0001c0001t0004g0125	37	64	0.5781	-15	c.489 others(36): Show c.489-108286_489-108272delTATTTTATTTTATTT		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11				INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86274475	TGAGACGG others(8): Show TGAGACGGAGTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	166	0.0060	-15	c.489 others(36): Show c.489-102348_489-102334delGAGACGGAGTCTTTC		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	1/11					chrX	TogoVar
DACH2_chrX_86143451_86837602	86637206	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18952.hp1 HG02615.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0109 a0001c0001t0002g0044 a0001c0001t0001g0109 a0001c0001t0002g0044	2	21	0.0952	-15	c.641 others(34): Show c.641-13804_641-13790delAAAAAAAAAAAAAAA		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11				INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86667526	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	166	0.0060	-15	c.772 others(34): Show c.772+16362_772+16376delGAAAGAAAGAAAGAA		DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	4/11				INFO_REALIGN_3_PRIME	chrX	TogoVar
DACT2_chr6_168301904_168324777	168321794	TTTTTTCT others(8): Show TTTTTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG00741.hp2 others(29): Show HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01515.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02273.hp2 HG02647.hp2 HG02738.hp1 HG03490.hp1 HG03492.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18975.hp2 NA18978.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp2 NA19010.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19074.hp2 NA19090.hp2 NA20300.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0014c0031	a0001c0001t0001 a0001c0001t0014 a0002c0002t0005 others(3): Show a0001c0001t0001 a0001c0001t0014 a0002c0002t0005 a0002c0003t0006 a0002c0005t0006 a0014c0031t0006	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0035 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0200 a0001c0001t0001g0232 a0001c0001t0001g0254 a0001c0001t0001g0269 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0014g0280 a0002c0002t0005g0002 a0002c0002t0005g0056 a0002c0002t0005g0235 a0002c0002t0005g0264 a0002c0003t0006g0034 a0002c0003t0006g0206 a0002c0003t0006g0233 a0002c0003t0006g0263 a0002c0003t0006g0267 a0002c0003t0006g0281 a0002c0003t0006g0319 a0002c0003t0006g0321 a0002c0005t0006g0062 a0002c0005t0006g0270 a0014c0031t0006g0320	32	229	0.1397	-15	c.-21 others(26): Show c.-2176_-2162delGAAGAAGAAGAAAAA		DACT2	ENSG00000164488.12	transcript	ENST00000366795.4	protein_coding				2018		chr6	TogoVar

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