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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DHRSX_chrX_2214506_2505976	2303785	A A	ATGGATGG others(1): Show ATGGATGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 NA18522.hp1 HG02886.hp2 HG02895.hp1 NA18522.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0004 a0005c0006t0004 a0002c0002t0004 a0005c0006t0004	a0002c0002t0004g0031 a0002c0002t0004g0035 a0005c0006t0004g0034 a0002c0002t0004g0031 a0002c0002t0004g0035 a0005c0006t0004g0034	3	50	0.0600	8	c.287 others(27): Show c.287-12190_287-12183dupCCCATCCA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2304339	T T	TGATGGAT others(1): Show TGATGGATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01496.hp1 others(3): Show HG00280.hp1 HG01167.hp1 HG01496.hp1 HG02004.hp2 HG02698.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0002 a0003c0003 a0003c0016 others(1): Show a0002c0002 a0003c0003 a0003c0016 a0011c0007	a0002c0002t0003 a0003c0003t0002 a0003c0016t0002 others(1): Show a0002c0002t0003 a0003c0003t0002 a0003c0016t0002 a0011c0007t0001	a0002c0002t0003g0008 a0003c0003t0002g0013 a0003c0003t0002g0018 others(3): Show a0002c0002t0003g0008 a0003c0003t0002g0013 a0003c0003t0002g0018 a0003c0003t0002g0043 a0003c0016t0002g0040 a0011c0007t0001g0028	6	50	0.1200	8	c.287 others(27): Show c.287-12744_287-12737dupCATCCATC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314263	T T	TGAGGGAG others(1): Show TGAGGGAGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01496.hp1 others(3): Show HG00280.hp1 HG01167.hp1 HG01496.hp1 HG02004.hp2 HG02071.hp1 HG02698.hp1	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0002 a0003c0003 a0003c0016 others(1): Show a0002c0002 a0003c0003 a0003c0016 a0011c0007	a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 others(2): Show a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 a0003c0016t0002 a0011c0007t0001	a0002c0002t0002g0016 a0002c0002t0003g0008 a0003c0003t0002g0018 others(3): Show a0002c0002t0002g0016 a0002c0002t0003g0008 a0003c0003t0002g0018 a0003c0003t0002g0043 a0003c0016t0002g0040 a0011c0007t0001g0028	6	50	0.1200	8	c.287 others(27): Show c.287-22661_287-22660insCCTCCCTC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314310	G G	GGGAGGGA others(1): Show GGGAGGGAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18943.hp1 NA18522.hp1 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0023 a0002c0002t0004g0035 a0001c0001t0001g0023 a0002c0002t0004g0035	2	50	0.0400	8	c.287 others(27): Show c.287-22708_287-22707insTTCCCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2314471	A A	AAGGAAGG others(1): Show AAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02300.hp1 HG04204.hp1 others(4): Show HG02004.hp1 HG02300.hp1 HG04204.hp1 NA18612.hp1 NA18948.hp1 NA19070.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0004 a0002c0002 a0003c0003 a0004c0004	a0002c0002t0003 a0003c0003t0002 a0004c0004t0001 a0002c0002t0003 a0003c0003t0002 a0004c0004t0001	a0002c0002t0003g0002 a0002c0002t0003g0017 a0002c0002t0003g0042 others(4): Show a0002c0002t0003g0002 a0002c0002t0003g0017 a0002c0002t0003g0042 a0002c0002t0003g0045 a0002c0002t0003g0050 a0003c0003t0002g0013 a0004c0004t0001g0048	7	50	0.1400	8	c.287 others(27): Show c.287-22869_287-22868insCCCTTCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2328079	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02004.hp1 HG00280.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0008 a0002c0002t0003g0050 a0002c0002t0003g0008 a0002c0002t0003g0050	2	50	0.0400	8	c.287 others(27): Show c.287-36484_287-36477dupTTTTTTTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2331436	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0001 a0011c0007t0001	a0011c0007t0001g0028 a0011c0007t0001g0028	1	50	0.0200	8	c.287 others(27): Show c.287-39841_287-39834dupAAAAAAAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2355511	T T	TAAAAAAA others(1): Show TAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02717.hp1 HG02071.hp1 HG02717.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0005 a0002c0002t0002 a0004c0004t0005	a0002c0002t0002g0016 a0004c0004t0005g0009 a0002c0002t0002g0016 a0004c0004t0005g0009	2	50	0.0400	8	c.286 others(27): Show c.286+53226_286+53233dupTTTTTTTT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2385110	A A	ATGTGTGT others(1): Show ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0005 a0004c0014t0005	a0004c0014t0005g0007 a0004c0014t0005g0007	1	50	0.0200	8	c.286 others(27): Show c.286+23627_286+23634dupCACACACA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2385136	G G	GTGTGTGT others(1): Show GTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0032 a0004c0004t0009g0032	1	50	0.0200	8	c.286 others(27): Show c.286+23608_286+23609insTACACACA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2386156	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp1 HG02300.hp1 others(2): Show HG01167.hp1 HG01496.hp1 HG02300.hp1 HG02922.hp2 NA19066.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0002c0002 a0003c0016 others(1): Show a0001c0001 a0002c0002 a0003c0016 a0011c0007	a0001c0001t0001 a0002c0002t0003 a0003c0016t0002 others(1): Show a0001c0001t0001 a0002c0002t0003 a0003c0016t0002 a0011c0007t0001	a0001c0001t0001g0026 a0001c0001t0001g0038 a0002c0002t0003g0042 others(2): Show a0001c0001t0001g0026 a0001c0001t0001g0038 a0002c0002t0003g0042 a0003c0016t0002g0040 a0011c0007t0001g0028	5	50	0.1000	8	c.286 others(27): Show c.286+22581_286+22588dupATAAATAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2438306	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp1 HG01928.hp1 others(23): Show HG00280.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02293.hp1 HG02293.hp2 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18948.hp1 NA18952.hp2 NA18960.hp1 NA18971.hp1 NA19005.hp1 NA19066.hp1 NA19070.hp1 NA19079.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0003c0016 a0004c0004 a0004c0014 a0010c0015	a0001c0001t0001 a0001c0001t0011 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0011 a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 a0003c0016t0002 a0004c0004t0005 a0004c0014t0005 a0010c0015t0007	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0020 others(23): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0011g0022 a0002c0002t0002g0016 a0002c0002t0003g0002 a0002c0002t0003g0008 a0002c0002t0003g0017 a0002c0002t0003g0045 a0003c0003t0002g0014 a0003c0003t0002g0018 a0003c0003t0002g0043 a0003c0016t0002g0040 a0004c0004t0005g0030 a0004c0014t0005g0007 a0010c0015t0007g0036	26	50	0.5200	8	c.110 others(27): Show c.110-13010_110-13003dupGTGTGTGT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2460582	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02055.hp1 HG02486.hp2 others(7): Show HG01928.hp1 HG02055.hp1 HG02486.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp1 HG04204.hp1 NA18747.hp1 NA18952.hp2 NA18960.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0005 a0004c0004 others(1): Show a0001c0001 a0002c0005 a0004c0004 a0005c0008	a0001c0001t0001 a0002c0005t0004 a0004c0004t0001 others(3): Show a0001c0001t0001 a0002c0005t0004 a0004c0004t0001 a0004c0004t0005 a0004c0004t0009 a0005c0008t0006	a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0039 others(7): Show a0001c0001t0001g0021 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0002c0005t0004g0004 a0004c0004t0001g0048 a0004c0004t0005g0030 a0004c0004t0009g0032 a0005c0008t0006g0001	10	50	0.2000	8	c.110 others(27): Show c.110-35286_110-35279dupAAAAAAAA	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6			chrX	TogoVar
DHTKD1_chr10_12063954_12128221	12090428	T T	TTTCCTTC others(1): Show TTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01168.hp1 HG01169.hp2 others(6): Show HG00558.hp2 HG01168.hp1 HG01169.hp2 HG02293.hp2 HG02717.hp1 HG03130.hp2 NA18984.hp2 NA19003.hp1 NA19043.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0005 a0002c0019 others(1): Show a0002c0002 a0002c0005 a0002c0019 a0006c0008	a0002c0002t0001 a0002c0002t0004 a0002c0005t0002 others(2): Show a0002c0002t0001 a0002c0002t0004 a0002c0005t0002 a0002c0019t0002 a0006c0008t0016	a0002c0002t0001g0018 a0002c0002t0001g0045 a0002c0002t0001g0046 others(6): Show a0002c0002t0001g0018 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0241 a0002c0002t0004g0057 a0002c0005t0002g0113 a0002c0019t0002g0115 a0006c0008t0016g0074	9	374	0.0241	8	c.988 others(25): Show c.988-1041_988-1034dupCTTCCTTC	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12103491	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00544.hp1 others(57): Show HG00140.hp2 HG00323.hp1 HG00544.hp1 HG00597.hp2 HG00642.hp2 HG00738.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02258.hp2 HG02293.hp2 HG02559.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG02896.hp1 HG03195.hp2 HG03540.hp2 HG03831.hp1 HG04228.hp1 HG06807.hp1 NA18939.hp1 NA18944.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18973.hp2 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18991.hp1 NA19005.hp2 NA19007.hp2 NA19043.hp1 NA19056.hp2 NA19063.hp2 NA19065.hp1 NA19075.hp2 NA19081.hp2 NA19085.hp2 NA19090.hp2	a0002 a0003 a0010 a0002 a0003 a0010	a0002c0002 a0003c0013 a0010c0023 a0002c0002 a0003c0013 a0010c0023	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0012 a0002c0002t0026 a0002c0002t0031 a0002c0002t0035 a0003c0013t0023 a0010c0023t0003	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0009 others(56): Show a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0019 a0002c0002t0001g0027 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0065 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0075 a0002c0002t0001g0081 a0002c0002t0001g0093 a0002c0002t0001g0242 a0002c0002t0002g0007 a0002c0002t0002g0026 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0034 a0002c0002t0002g0042 a0002c0002t0002g0050 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0064 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0077 a0002c0002t0002g0085 a0002c0002t0002g0090 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0110 a0002c0002t0002g0329 a0002c0002t0003g0008 a0002c0002t0003g0020 a0002c0002t0003g0031 a0002c0002t0003g0041 a0002c0002t0003g0059 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0083 a0002c0002t0003g0092 a0002c0002t0003g0210 a0002c0002t0004g0017 a0002c0002t0004g0021 a0002c0002t0004g0049 a0002c0002t0004g0104 a0002c0002t0012g0030 a0002c0002t0026g0006 a0002c0002t0031g0076 a0002c0002t0035g0011 a0003c0013t0023g0149 a0010c0023t0003g0066	60	374	0.1604	8	c.189 others(27): Show c.1896+2340_1896+2347dupGTGTGTGT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DHTKD1_chr10_12063954_12128221	12127557	G G	GACACCCC others(1): Show GACACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG01106.hp1 HG01106.hp2 others(12): Show HG00621.hp1 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01516.hp2 HG02523.hp2 HG02735.hp2 HG03710.hp2 HG04228.hp2 NA18522.hp2 NA18992.hp2 NA19065.hp2 NA19240.hp2	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0003	a0000c0016 a0001c0001 a0002c0002 others(2): Show a0000c0016 a0001c0001 a0002c0002 a0003c0003 a0003c0004	a0000c0016t0021 a0001c0001t0001 a0001c0001t0004 others(4): Show a0000c0016t0021 a0001c0001t0001 a0001c0001t0004 a0001c0001t0040 a0002c0002t0002 a0003c0003t0003 a0003c0004t0001	a0000c0016t0021g0265 a0001c0001t0001g0033 a0001c0001t0001g0118 others(12): Show a0000c0016t0021g0265 a0001c0001t0001g0033 a0001c0001t0001g0118 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0352 a0001c0001t0004g0251 a0001c0001t0004g0256 a0001c0001t0040g0276 a0002c0002t0002g0055 a0003c0003t0003g0233 a0003c0004t0001g0156 a0003c0004t0001g0163 a0003c0004t0001g0230	15	374	0.0401	8	c.66 others(19): Show c.6669_*6670insACACCCCC	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding		4337		chr10	TogoVar
DHX15_chr4_24522475_24589554	24550094	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp1 HG01934.hp2 others(14): Show HG01106.hp2 HG01243.hp1 HG01934.hp2 HG01952.hp1 HG02148.hp1 HG02258.hp1 HG02572.hp1 HG02809.hp1 HG02896.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 NA18522.hp2 NA18942.hp2 NA18964.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0008 a0001c0001 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0005t0001 a0001c0008t0001 a0001c0001t0001 a0001c0005t0001 a0001c0008t0001	a0001c0001t0001g0027 a0001c0001t0001g0067 a0001c0001t0001g0070 others(14): Show a0001c0001t0001g0027 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0169 a0001c0005t0001g0026 a0001c0008t0001g0069	17	374	0.0455	8	c.108 others(27): Show c.1081-1080_1081-1073dupTTTTTTTT	DHX15	ENSG00000109606.13	transcript	ENST00000336812.5	protein_coding	5/13			chr4	TogoVar
DHX16_chr6_30648127_30678006	30677847	A A	AAAATAAA others(1): Show AAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG03654.hp1 others(6): Show HG00408.hp2 HG00438.hp2 HG03654.hp1 NA18946.hp1 NA18956.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18986.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0001 a0009c0012t0001 a0001c0001t0001 a0009c0012t0001	a0001c0001t0001g0013 a0001c0001t0001g0157 a0001c0001t0001g0162 others(2): Show a0001c0001t0001g0013 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0164 a0009c0012t0001g0161	9	383	0.0235	8	c.-50 others(19): Show c.-5014_-5007dupATTTATTT	DHX16	ENSG00000204560.10	transcript	ENST00000376442.8	protein_coding		4842		chr6	TogoVar
DHX30_chr3_47798138_47855193	47811808	A A	AATCCCAG others(1): Show AATCCCAGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02970.hp2 HG03130.hp1 others(3): Show HG01891.hp1 HG02970.hp2 HG03130.hp1 HG03540.hp2 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0105 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108	6	266	0.0226	8	c.28+ others(23): Show c.28+1099_28+1106dupTCCCAGCA	DHX30	ENSG00000132153.15	transcript	ENST00000445061.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
DHX30_chr3_47798138_47855193	47829287	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18986.hp2 NA18990.hp1 others(2): Show HG03130.hp1 NA18986.hp2 NA18990.hp1 NA19066.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0079 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0079 a0001c0001t0001g0105 a0001c0001t0001g0107	5	266	0.0188	8	c.366 others(23): Show c.366+174_366+181dupATATATAT	DHX30	ENSG00000132153.15	transcript	ENST00000445061.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
DHX34_chr19_47344315_47387704	47347324	A A	ATTATTTA others(1): Show ATTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01433.hp1 HG01993.hp2 others(3): Show HG01175.hp1 HG01433.hp1 HG01993.hp2 HG02109.hp1 HG03139.hp1 HG04115.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0009c0016 a0001c0001 a0001c0002 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0002t0015 a0009c0016t0009	a0001c0001t0001g0058 a0001c0001t0001g0081 a0001c0001t0002g0225 others(3): Show a0001c0001t0001g0058 a0001c0001t0001g0081 a0001c0001t0002g0225 a0001c0002t0003g0262 a0001c0002t0015g0271 a0009c0016t0009g0019	6	382	0.0157	8	c.-23 others(19): Show c.-2306_-2305insTTATTTAT	DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding		1990		chr19	TogoVar
DHX35_chr20_38957344_39044721	39020656	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG00738.hp2 others(38): Show HG00280.hp1 HG00673.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp1 HG01346.hp1 HG01433.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG02155.hp1 HG02165.hp2 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02970.hp2 HG03225.hp1 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG04204.hp1 HG04204.hp2 NA18945.hp1 NA18950.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18977.hp1 NA18984.hp1 NA19006.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19063.hp1 NA19074.hp2 NA19077.hp2 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0005c0011	a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 others(4): Show a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0008t0002 a0002c0002t0001 a0005c0011t0002	a0001c0001t0001g0081 a0001c0003t0002g0004 a0001c0003t0002g0016 others(36): Show a0001c0001t0001g0081 a0001c0003t0002g0004 a0001c0003t0002g0016 a0001c0003t0002g0020 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0024 a0001c0003t0002g0025 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0042 a0001c0003t0002g0044 a0001c0003t0002g0045 a0001c0003t0002g0047 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0003g0059 a0001c0003t0004g0023 a0001c0003t0004g0026 a0001c0008t0002g0005 a0001c0008t0002g0043 a0001c0008t0002g0051 a0002c0002t0001g0247 a0002c0002t0001g0260 a0005c0011t0002g0017	41	290	0.1414	8	c.149 others(27): Show c.1499-1172_1499-1165dupTTTTTTTT	DHX35	ENSG00000101452.15	transcript	ENST00000252011.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
DHX36_chr3_154267546_154329487	154292726	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02572.hp1 others(3): Show HG02145.hp1 HG02280.hp1 HG02572.hp1 HG02647.hp1 HG03041.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0001t0029 a0001c0004t0003 a0001c0001t0009 a0001c0001t0029 a0001c0004t0003	a0001c0001t0009g0174 a0001c0001t0009g0176 a0001c0001t0009g0177 others(3): Show a0001c0001t0009g0174 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0009g0194 a0001c0001t0029g0175 a0001c0004t0003g0192	6	366	0.0164	8	c.167 others(23): Show c.1671-40_1671-33dupGTGTGTGT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	14/24			chr3	TogoVar
DHX36_chr3_154267546_154329487	154312852	A A	AATATATA others(1): Show AATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02895.hp1 HG06807.hp1 others(1): Show HG02074.hp1 HG02895.hp1 HG06807.hp1 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001	a0001c0001t0002g0195 a0001c0001t0004g0036 a0002c0002t0001g0017 others(1): Show a0001c0001t0002g0195 a0001c0001t0004g0036 a0002c0002t0001g0017 a0002c0002t0001g0169	4	366	0.0109	8	c.604 others(25): Show c.604-1186_604-1179dupATATATAT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	3/24			chr3	TogoVar
DHX36_chr3_154267546_154329487	154312900	T T	TATATAAA others(1): Show TATATAAAA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18985.hp1 NA19080.hp1 NA18978.hp2 NA18985.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275	3	366	0.0082	8	c.604 others(25): Show c.604-1227_604-1226insTTTTATAT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	3/24			chr3	TogoVar
DHX36_chr3_154267546_154329487	154312900	T T	TATATATA others(1): Show TATATATAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02027.hp1 HG02602.hp1 others(10): Show HG01993.hp1 HG02027.hp1 HG02602.hp1 HG04115.hp1 NA18942.hp1 NA18950.hp2 NA18980.hp1 NA19001.hp2 NA19004.hp1 NA19070.hp2 NA19077.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0198 a0001c0001t0002g0212 a0001c0001t0002g0214 others(10): Show a0001c0001t0002g0198 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0015g0213	13	366	0.0355	8	c.604 others(25): Show c.604-1227_604-1226insTTATATAT	DHX36	ENSG00000174953.14	transcript	ENST00000496811.6	protein_coding	3/24			chr3	TogoVar
DHX37_chr12_124941826_124994131	124959032	C C	CCCAAGTA others(1): Show CCCAAGTAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01175.hp1 HG01243.hp2 others(53): Show HG01109.hp1 HG01175.hp1 HG01243.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0010 others(5): Show a0003 a0004 a0010 a0011 a0015 a0017 a0022 a0028	a0003c0005 a0003c0014 a0004c0006 others(6): Show a0003c0005 a0003c0014 a0004c0006 a0010c0020 a0011c0024 a0015c0030 a0017c0042 a0022c0053 a0028c0059	a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 others(15): Show a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0003c0005t0011 a0003c0005t0020 a0003c0005t0022 a0003c0014t0005 a0004c0006t0001 a0004c0006t0002 a0004c0006t0008 a0004c0006t0014 a0010c0020t0007 a0011c0024t0001 a0015c0030t0007 a0015c0030t0023 a0017c0042t0001 a0022c0053t0001 a0028c0059t0002	a0003c0005t0001g0002 a0003c0005t0001g0124 a0003c0005t0001g0129 others(46): Show a0003c0005t0001g0002 a0003c0005t0001g0124 a0003c0005t0001g0129 a0003c0005t0001g0130 a0003c0005t0001g0172 a0003c0005t0002g0005 a0003c0005t0002g0133 a0003c0005t0002g0134 a0003c0005t0002g0180 a0003c0005t0002g0197 a0003c0005t0002g0200 a0003c0005t0003g0120 a0003c0005t0003g0184 a0003c0005t0003g0196 a0003c0005t0011g0349 a0003c0005t0011g0350 a0003c0005t0020g0348 a0003c0005t0022g0352 a0003c0014t0005g0001 a0003c0014t0005g0123 a0003c0014t0005g0126 a0003c0014t0005g0127 a0003c0014t0005g0171 a0004c0006t0001g0015 a0004c0006t0001g0263 a0004c0006t0001g0301 a0004c0006t0001g0316 a0004c0006t0002g0047 a0004c0006t0002g0052 a0004c0006t0002g0113 a0004c0006t0002g0114 a0004c0006t0002g0137 a0004c0006t0002g0298 a0004c0006t0002g0300 a0004c0006t0002g0317 a0004c0006t0002g0343 a0004c0006t0008g0111 a0004c0006t0008g0121 a0004c0006t0008g0339 a0004c0006t0014g0346 a0010c0020t0007g0051 a0010c0020t0007g0299 a0010c0020t0007g0324 a0011c0024t0001g0003 a0015c0030t0007g0020 a0015c0030t0023g0353 a0017c0042t0001g0112 a0022c0053t0001g0108 a0028c0059t0002g0303	56	370	0.1514	8	c.215 others(27): Show c.2157+1272_2157+1279dupCTACTTGG	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	16/26			chr12	TogoVar
DHX37_chr12_124941826_124994131	124983418	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(49): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00642.hp1 HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG03209.hp1 HG03486.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18954.hp2 NA18971.hp1 NA18986.hp1 NA18995.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19067.hp2 NA20752.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0022 a0023	a0001c0001 a0001c0002 a0001c0009 others(6): Show a0001c0001 a0001c0002 a0001c0009 a0001c0023 a0003c0005 a0003c0007 a0005c0017 a0022c0053 a0023c0056	a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0009t0004 a0001c0009t0006 a0001c0023t0003 a0003c0005t0002 a0003c0005t0003 a0003c0005t0020 a0003c0007t0001 a0005c0017t0002 a0022c0053t0001 a0023c0056t0003	a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0177 others(44): Show a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0016g0280 a0001c0002t0001g0277 a0001c0002t0002g0183 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0205 a0001c0002t0002g0257 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0284 a0001c0009t0004g0109 a0001c0009t0006g0107 a0001c0023t0003g0181 a0001c0023t0003g0190 a0003c0005t0002g0005 a0003c0005t0002g0197 a0003c0005t0002g0200 a0003c0005t0003g0120 a0003c0005t0003g0196 a0003c0005t0020g0348 a0003c0007t0001g0008 a0003c0007t0001g0166 a0003c0007t0001g0173 a0003c0007t0001g0195 a0003c0007t0001g0202 a0003c0007t0001g0203 a0005c0017t0002g0012 a0005c0017t0002g0191 a0022c0053t0001g0108 a0023c0056t0003g0285	52	370	0.1405	8	c.277 others(23): Show c.277-803_277-796dupGTGTGTGT	DHX37	ENSG00000150990.9	transcript	ENST00000308736.7	protein_coding	2/26			chr12	TogoVar
DHX38_chr16_72088847_72117912	72106438	C C	CGTTTTCT others(1): Show CGTTTTCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02074.hp2 HG02080.hp1 others(7): Show HG00423.hp2 HG02074.hp2 HG02080.hp1 NA18940.hp1 NA18950.hp1 NA18957.hp2 NA18988.hp2 NA19007.hp2 NA19063.hp2 NA19083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0021 a0001c0002t0001g0027 others(1): Show a0001c0002t0001g0011 a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0086	10	380	0.0263	8	c.260 others(25): Show c.2600+321_2600+322insGTTTTCTT	DHX38	ENSG00000140829.12	transcript	ENST00000268482.8	protein_coding	19/26			chr16	TogoVar
DHX38_chr16_72088847_72117912	72106440	T T	TTTTCTTT others(1): Show TTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG00609.hp2 others(155): Show HG00280.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19070.hp1 NA19072.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0008 others(4): Show a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0001c0020 a0002c0009 a0002c0021	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0004t0001 a0001c0008t0001 a0001c0010t0001 a0001c0020t0001 a0002c0009t0001 a0002c0021t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0006 others(51): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0040 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0002g0007 a0001c0002t0005g0002 a0001c0002t0005g0066 a0001c0002t0008g0013 a0001c0004t0001g0004 a0001c0004t0001g0030 a0001c0004t0001g0079 a0001c0004t0001g0080 a0001c0008t0001g0002 a0001c0010t0001g0003 a0001c0010t0001g0071 a0001c0020t0001g0002 a0002c0009t0001g0003 a0002c0009t0001g0020 a0002c0021t0001g0003	158	380	0.4158	8	c.260 others(25): Show c.2600+331_2600+338dupCTTTCTTT	DHX38	ENSG00000140829.12	transcript	ENST00000268482.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
DHX57_chr2_38792729_38880934	38812841	C C	CTTGTTTG others(1): Show CTTGTTTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01074.hp1 others(37): Show HG00323.hp1 HG00639.hp2 HG01074.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp1 HG01993.hp2 HG02109.hp1 HG02145.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp2 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA18956.hp1 NA18961.hp2 NA18982.hp1 NA18995.hp1 NA18997.hp2 NA19003.hp1 NA19068.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0011 a0001c0024 others(5): Show a0001c0001 a0001c0011 a0001c0024 a0002c0002 a0002c0009 a0004c0006 a0006c0014 a0007c0013	a0001c0001t0003 a0001c0001t0007 a0001c0011t0003 others(7): Show a0001c0001t0003 a0001c0001t0007 a0001c0011t0003 a0001c0024t0003 a0002c0002t0001 a0002c0002t0004 a0002c0009t0003 a0004c0006t0003 a0006c0014t0004 a0007c0013t0003	a0001c0001t0003g0001 a0001c0001t0003g0138 a0001c0001t0003g0139 others(36): Show a0001c0001t0003g0001 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0251 a0001c0001t0007g0273 a0001c0001t0007g0274 a0001c0011t0003g0180 a0001c0024t0003g0181 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0068 a0002c0002t0001g0100 a0002c0002t0004g0276 a0002c0002t0004g0277 a0002c0002t0004g0278 a0002c0002t0004g0279 a0002c0009t0003g0052 a0004c0006t0003g0268 a0004c0006t0003g0269 a0004c0006t0003g0270 a0006c0014t0004g0281 a0007c0013t0003g0193 a0007c0013t0003g0194	40	284	0.1409	8	c.368 others(25): Show c.3681+972_3681+979dupACAAACAA	DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	21/23			chr2	TogoVar
DIAPH1_chr5_141510021_141624000	141591695	G G	GATATATA others(1): Show GATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02886.hp1 NA18956.hp2 others(1): Show HG02145.hp2 HG02886.hp1 NA18956.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0003g0154 others(1): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0003g0154 a0001c0001t0003g0165	4	336	0.0119	8	c.118 others(25): Show c.118-3453_118-3446dupATATATAT	DIAPH1	ENSG00000131504.18	transcript	ENST00000389054.8	protein_coding	1/27			chr5	TogoVar
DIAPH2_chrX_96679842_97609997	96717816	G G	GTATATAT others(1): Show GTATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	147	0.0068	8	c.133 others(27): Show c.133-17906_133-17899dupATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	1/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96751652	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0112 a0001c0001t0022g0112	1	147	0.0068	8	c.343 others(25): Show c.343-6490_343-6483dupTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	3/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96775353	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01981.hp1 HG02486.hp1 others(2): Show HG00673.hp1 HG01981.hp1 HG02486.hp1 HG02965.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0019 a0001c0001t0020	a0001c0001t0002g0103 a0001c0001t0003g0025 a0001c0001t0007g0101 others(2): Show a0001c0001t0002g0103 a0001c0001t0003g0025 a0001c0001t0007g0101 a0001c0001t0019g0102 a0001c0001t0020g0146	5	147	0.0340	8	c.447 others(27): Show c.447+17127_447+17134dupGTGTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96785475	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02015.hp1 HG02040.hp1 others(8): Show HG01943.hp1 HG02015.hp1 HG02040.hp1 HG02135.hp1 HG02647.hp1 HG03654.hp1 NA18747.hp1 NA18977.hp1 NA19009.hp1 NA19060.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0007t0005	a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0122 others(8): Show a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0134 a0001c0001t0012g0143 a0001c0007t0005g0131	11	147	0.0748	8	c.447 others(27): Show c.447+27232_447+27239dupTTTTTTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96837404	C C	CCTCTCTC others(1): Show CCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	147	0.0068	8	c.448 others(27): Show c.448-44152_448-44145dupCTCTCTCT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96837433	C C	CTCTCTGT others(1): Show CTCTCTGTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01943.hp1 NA19009.hp1 HG01256.hp1 HG01943.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0002g0123 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0002g0123	3	147	0.0204	8	c.448 others(27): Show c.448-44145_448-44144insCTCTGTGT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96854598	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18959.hp1 NA18945.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0072 a0001c0001t0002g0058 a0001c0001t0002g0072	2	147	0.0136	8	c.448 others(27): Show c.448-26944_448-26937dupATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	4/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96882959	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	147	0.0068	8	c.587 others(25): Show c.587+1258_587+1265dupAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	5/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96919864	A A	ATTATTTA others(1): Show ATTATTTAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02486.hp1 HG03017.hp1 others(1): Show HG01081.hp1 HG02486.hp1 HG03017.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0048 a0001c0001t0002g0032 a0001c0001t0003g0025 others(1): Show a0001c0001t0001g0048 a0001c0001t0002g0032 a0001c0001t0003g0025 a0001c0001t0009g0099	4	147	0.0272	8	c.978 others(25): Show c.978+1277_978+1284dupTATTTATT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	9/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96939619	T T	TATACACA others(1): Show TATACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03492.hp1 NA18955.hp1 others(1): Show HG02602.hp1 HG03492.hp1 NA18955.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0002g0051 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0002g0051 a0001c0001t0005g0040	4	147	0.0272	8	c.132 others(25): Show c.1325+238_1325+239insTACACACA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	12/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96967391	T T	TATTCATT others(1): Show TATTCATTC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	147	0.0068	8	c.205 others(27): Show c.2050+2187_2050+2188insCATTCATT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	17/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96967395	T T	TATTCATT others(1): Show TATTCATTC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00673.hp1 others(25): Show HG00280.hp1 HG00621.hp1 HG00673.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01358.hp1 HG01981.hp1 HG02071.hp1 HG02300.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG03017.hp1 HG03130.hp1 HG03710.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18966.hp1 NA18970.hp1 NA18983.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp1 NA19056.hp1 NA20752.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0019	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0020 others(25): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0133 a0001c0001t0002g0011 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0004g0147 a0001c0001t0007g0049 a0001c0001t0007g0101 a0001c0001t0008g0041 a0001c0001t0009g0099 a0001c0001t0014g0012 a0001c0001t0019g0102	28	147	0.1905	8	c.205 others(27): Show c.2050+2212_2050+2219dupCATTCATT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	17/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	96970350	G G	GTTGTTTG others(1): Show GTTGTTTGT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	147	0.0068	8	c.205 others(27): Show c.2050+5162_2050+5169dupGTTTGTTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	17/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97011891	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	147	0.0068	8	c.205 others(29): Show c.2050+46705_2050+46712dupAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	17/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97055009	T T	TTTTATTT others(1): Show TTTTATTTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0086 a0001c0001t0017g0086	1	147	0.0068	8	c.205 others(29): Show c.2051-17912_2051-17905dupATTTATTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	17/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97112536	C C	CACAAACA others(1): Show CACAAACAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	147	0.0068	8	c.235 others(27): Show c.2350-2189_2350-2188insCAAACAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	20/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97137270	C C	CATATATA others(1): Show CATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01943.hp1 HG01952.hp1 others(11): Show HG01515.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG02056.hp1 HG02145.hp1 HG03471.hp1 HG03492.hp1 HG03710.hp1 NA18952.hp1 NA18955.hp1 NA18982.hp1 NA19009.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0096 others(11): Show a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0002g0022 a0001c0001t0002g0034 a0001c0001t0002g0051 a0001c0001t0002g0064 a0001c0001t0002g0103 a0001c0001t0002g0123 a0001c0001t0005g0040 a0001c0003t0001g0136 a0001c0003t0003g0081	14	147	0.0952	8	c.259 others(27): Show c.2590-4370_2590-4363dupATATATAT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	21/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97149730	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp2 HG02572.hp1 others(5): Show HG01106.hp1 HG01891.hp2 HG02572.hp1 HG02809.hp1 HG04199.hp1 NA18612.hp1 NA18944.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0022	a0001c0001t0001g0033 a0001c0001t0001g0059 a0001c0001t0001g0066 others(5): Show a0001c0001t0001g0033 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0087 a0001c0001t0002g0011 a0001c0001t0002g0090 a0001c0001t0006g0005 a0001c0001t0022g0112	8	147	0.0544	8	c.271 others(27): Show c.2719+7949_2719+7956dupAAAAAAAA	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar

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