Joint Open Genome and Omics Platform (JoGo)

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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
DNAH5_chr5_13685328_13949688	13778539	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00733.hp2 HG03225.hp1 others(2): Show HG00621.hp1 HG00733.hp2 HG03225.hp1 NA18944.hp2 NA18966.hp2	a0003 a0007 a0030 others(2): Show a0003 a0007 a0030 a0045 a0106	a0003c0010 a0007c0052 a0030c0173 others(2): Show a0003c0010 a0007c0052 a0030c0173 a0045c0027 a0106c0127	a0003c0010t0004 a0007c0052t0002 a0030c0173t0002 others(2): Show a0003c0010t0004 a0007c0052t0002 a0030c0173t0002 a0045c0027t0004 a0106c0127t0005	a0003c0010t0004g0248 a0007c0052t0002g0102 a0030c0173t0002g0201 others(2): Show a0003c0010t0004g0248 a0007c0052t0002g0102 a0030c0173t0002g0201 a0045c0027t0004g0252 a0106c0127t0005g0013	5	252	0.0198	20	c.895 others(39): Show c.8952-1204_8952-1185dupTCTTTCTTTCTTTCTTTCTT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	53/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13778596	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18949.hp1 HG01109.hp2 NA18949.hp1	a0018 a0055 a0018 a0055	a0018c0087 a0055c0074 a0018c0087 a0055c0074	a0018c0087t0001 a0055c0074t0002 a0018c0087t0001 a0055c0074t0002	a0018c0087t0001g0066 a0055c0074t0002g0056 a0018c0087t0001g0066 a0055c0074t0002g0056	2	252	0.0079	20	c.895 others(39): Show c.8952-1242_8952-1241insCTCTTTCTTTCTTTCTTTCT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	53/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13778596	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0109 a0109	a0109c0203 a0109c0203	a0109c0203t0002 a0109c0203t0002	a0109c0203t0002g0230 a0109c0203t0002g0230	1	252	0.0040	20	c.895 others(39): Show c.8952-1242_8952-1241insCTTTCTTTCTCTCTCTCTCT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	53/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13825346	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01106.hp1 HG01433.hp1 others(5): Show HG00621.hp2 HG01106.hp1 HG01433.hp1 HG02055.hp2 HG02559.hp1 NA18612.hp1 NA18956.hp1 NA19006.hp2	a0004 a0009 a0029 others(5): Show a0004 a0009 a0029 a0053 a0066 a0081 a0124 a0135	a0004c0080 a0009c0003 a0029c0088 others(5): Show a0004c0080 a0009c0003 a0029c0088 a0053c0152 a0066c0167 a0081c0039 a0124c0185 a0135c0125	a0004c0080t0002 a0009c0003t0002 a0029c0088t0008 others(5): Show a0004c0080t0002 a0009c0003t0002 a0029c0088t0008 a0053c0152t0002 a0066c0167t0021 a0081c0039t0007 a0124c0185t0001 a0135c0125t0004	a0004c0080t0002g0061 a0009c0003t0002g0040 a0029c0088t0008g0032 others(5): Show a0004c0080t0002g0061 a0009c0003t0002g0040 a0029c0088t0008g0032 a0053c0152t0002g0131 a0066c0167t0021g0116 a0081c0039t0007g0005 a0124c0185t0001g0128 a0135c0125t0004g0247	8	252	0.0318	20	c.644 others(39): Show c.6445-1033_6445-1014dupATTTATTTATTTATTTATTT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	38/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13842433	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02273.hp2 HG02300.hp1 others(6): Show HG01099.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02723.hp2 HG02818.hp2 HG03225.hp2 NA18956.hp1 NA19068.hp1	a0008 a0009 a0012 others(6): Show a0008 a0009 a0012 a0021 a0025 a0077 a0090 a0093 a0142	a0008c0007 a0009c0003 a0012c0004 others(6): Show a0008c0007 a0009c0003 a0012c0004 a0021c0017 a0025c0045 a0077c0109 a0090c0083 a0093c0046 a0142c0100	a0008c0007t0002 a0009c0003t0002 a0012c0004t0001 others(6): Show a0008c0007t0002 a0009c0003t0002 a0012c0004t0001 a0021c0017t0001 a0025c0045t0001 a0077c0109t0002 a0090c0083t0001 a0093c0046t0003 a0142c0100t0002	a0008c0007t0002g0126 a0009c0003t0002g0040 a0012c0004t0001g0111 others(6): Show a0008c0007t0002g0126 a0009c0003t0002g0040 a0012c0004t0001g0111 a0021c0017t0001g0071 a0025c0045t0001g0060 a0077c0109t0002g0034 a0090c0083t0001g0153 a0093c0046t0003g0235 a0142c0100t0002g0075	9	252	0.0357	20	c.527 others(37): Show c.5272-530_5272-529insCTCTCTCTCTCTCTCTCTCT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13842441	A A	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0143 a0143	a0143c0066 a0143c0066	a0143c0066t0001 a0143c0066t0001	a0143c0066t0001g0150 a0143c0066t0001g0150	1	252	0.0040	20	c.527 others(37): Show c.5272-538_5272-537insCTCTCTCTCTCTCTCTCTCT	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	32/78			chr5	TogoVar
DNAH5_chr5_13685328_13949688	13862860	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02258.hp1 HG03130.hp1 others(3): Show HG02135.hp2 HG02258.hp1 HG03130.hp1 HG03486.hp2 NA18990.hp2 NA20300.hp2	a0001 a0023 a0075 others(3): Show a0001 a0023 a0075 a0110 a0133 a0145	a0001c0143 a0023c0008 a0075c0192 others(3): Show a0001c0143 a0023c0008 a0075c0192 a0110c0188 a0133c0201 a0145c0189	a0001c0143t0006 a0023c0008t0002 a0075c0192t0001 others(3): Show a0001c0143t0006 a0023c0008t0002 a0075c0192t0001 a0110c0188t0002 a0133c0201t0001 a0145c0189t0002	a0001c0143t0006g0195 a0023c0008t0002g0216 a0075c0192t0001g0026 others(3): Show a0001c0143t0006g0195 a0023c0008t0002g0216 a0075c0192t0001g0026 a0110c0188t0002g0025 a0133c0201t0001g0210 a0145c0189t0002g0023	6	252	0.0238	20	c.459 others(37): Show c.4597-114_4597-113insCATATATATATATATATATA	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	28/78			chr5	TogoVar
DNAH6_chr2_84511498_84824589	84514867	T T	TCACACAC others(13): Show TCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0002 a0008c0018t0002	a0008c0018t0002g0093 a0008c0018t0002g0093	1	116	0.0086	20	c.-17 others(31): Show c.-1725_-1724insCACACACACACACACACACA	DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding		1630		chr2	TogoVar
DNAH6_chr2_84511498_84824589	84598188	T T	TTTCTTTC others(13): Show TTTCTTTCTCTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01884.hp1 others(2): Show HG00099.hp2 HG00642.hp1 HG01884.hp1 HG02698.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0001g0071 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0015t0001g0081	5	116	0.0431	20	c.286 others(39): Show c.2868+2401_2868+2402insCTTTCTCTCTTTCTTTTCTT	DNAH6	ENSG00000115423.19	transcript	ENST00000389394.8	protein_coding	18/76		INFO_REALIGN_3_PRIME	chr2	TogoVar
DNAH7_chr2_195732703_196073837	195766167	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	256	0.0039	20	c.114 others(41): Show c.11433+5473_11433+5492dupAAAAAAAAAAAAAAAAAAAA	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	61/64			chr2	TogoVar
DNAH7_chr2_195732703_196073837	195950851	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0103 a0003c0004t0003g0103	1	256	0.0039	20	c.307 others(39): Show c.3078+6390_3078+6409dupTTTTTTTTTTTTTTTTTTTT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	19/64			chr2	TogoVar
DNAH7_chr2_195732703_196073837	195976747	C C	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01928.hp1 HG02109.hp1 others(7): Show HG00438.hp1 HG01928.hp1 HG02109.hp1 NA18947.hp2 NA18971.hp1 NA18979.hp2 NA19006.hp2 NA19060.hp1 NA19062.hp1 NA19075.hp1	a0001 a0011 a0017 others(2): Show a0001 a0011 a0017 a0023 a0047	a0001c0001 a0001c0006 a0001c0048 others(4): Show a0001c0001 a0001c0006 a0001c0048 a0011c0015 a0017c0019 a0023c0049 a0047c0051	a0001c0001t0002 a0001c0001t0010 a0001c0006t0001 others(5): Show a0001c0001t0002 a0001c0001t0010 a0001c0006t0001 a0001c0048t0002 a0011c0015t0001 a0017c0019t0001 a0023c0049t0002 a0047c0051t0001	a0001c0001t0002g0169 a0001c0001t0002g0204 a0001c0001t0002g0212 others(7): Show a0001c0001t0002g0169 a0001c0001t0002g0204 a0001c0001t0002g0212 a0001c0001t0010g0163 a0001c0006t0001g0055 a0001c0048t0002g0194 a0011c0015t0001g0205 a0017c0019t0001g0088 a0023c0049t0002g0227 a0047c0051t0001g0183	10	256	0.0391	20	c.183 others(39): Show c.1834-4301_1834-4282dupCTCTCTCTCTCTCTCTCTCT	DNAH7	ENSG00000118997.14	transcript	ENST00000312428.11	protein_coding	15/64			chr2	TogoVar
DNAH8_chr6_38710311_39035792	38715950	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0036 a0036	a0036c0082 a0036c0082	a0036c0082t0001 a0036c0082t0001	a0036c0082t0001g0246 a0036c0082t0001g0246	1	284	0.0035	20	c.-35 others(35): Show c.-35+536_-35+537insTTTTTTTTTTTTTTTTTTTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATATTTTT others(13): Show ATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0235 a0012c0016t0001g0235	1	284	0.0035	20	c.-35 others(35): Show c.-35+546_-35+547insATTTTTTTTTTTTTTTTTTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38715960	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG03486.hp1 HG00673.hp1 HG03486.hp1	a0017 a0018 a0017 a0018	a0017c0026 a0018c0030 a0017c0026 a0018c0030	a0017c0026t0001 a0018c0030t0001 a0017c0026t0001 a0018c0030t0001	a0017c0026t0001g0216 a0018c0030t0001g0237 a0017c0026t0001g0216 a0018c0030t0001g0237	2	284	0.0070	20	c.-35 others(35): Show c.-35+561_-35+562insTTTTTTTTTTTTTTTTTTTT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	1/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38766135	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp2 HG01358.hp2 others(12): Show HG00099.hp1 HG01175.hp2 HG01358.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02300.hp1 HG03831.hp1 NA18939.hp1 NA20300.hp2 NA20905.hp2	a0004 a0013 a0045 others(1): Show a0004 a0013 a0045 a0072	a0004c0002 a0004c0017 a0004c0050 others(3): Show a0004c0002 a0004c0017 a0004c0050 a0013c0014 a0045c0048 a0072c0133	a0004c0002t0001 a0004c0017t0001 a0004c0050t0001 others(3): Show a0004c0002t0001 a0004c0017t0001 a0004c0050t0001 a0013c0014t0001 a0045c0048t0001 a0072c0133t0001	a0004c0002t0001g0036 a0004c0002t0001g0060 a0004c0002t0001g0067 others(12): Show a0004c0002t0001g0036 a0004c0002t0001g0060 a0004c0002t0001g0067 a0004c0002t0001g0078 a0004c0002t0001g0130 a0004c0002t0001g0143 a0004c0002t0001g0185 a0004c0002t0001g0209 a0004c0017t0001g0050 a0004c0050t0001g0054 a0013c0014t0001g0127 a0013c0014t0001g0193 a0013c0014t0001g0245 a0045c0048t0001g0184 a0072c0133t0001g0098	15	284	0.0528	20	c.161 others(39): Show c.1618-4275_1618-4274insGTGTGTGTGTGTGTGTGTGT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	11/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38766139	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGCGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0057 a0057	a0057c0061 a0057c0061	a0057c0061t0001 a0057c0061t0001	a0057c0061t0001g0145 a0057c0061t0001g0145	1	284	0.0035	20	c.161 others(39): Show c.1618-4260_1618-4259insCGTGTGTGTGTGTGTGTGTG	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	11/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38766139	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03139.hp2 HG02280.hp2 HG03139.hp2	a0001 a0058 a0001 a0058	a0001c0007 a0058c0142 a0001c0007 a0058c0142	a0001c0007t0001 a0058c0142t0001 a0001c0007t0001 a0058c0142t0001	a0001c0007t0001g0170 a0058c0142t0001g0228 a0001c0007t0001g0170 a0058c0142t0001g0228	2	284	0.0070	20	c.161 others(39): Show c.1618-4257_1618-4256insGTGTGTGTGTGTGTGTGTGT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	11/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38874068	T T	TTCTTTCT others(13): Show TTCTTTCTTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0001 a0009c0008t0001g0001	1	284	0.0035	20	c.762 others(37): Show c.7620+693_7620+694insCTTTCTTTTTCTTTCTTTCT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	52/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38874068	T T	TTCTTTTT others(13): Show TTCTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0001 a0014c0020t0001	a0014c0020t0001g0071 a0014c0020t0001g0072 a0014c0020t0001g0071 a0014c0020t0001g0072	2	284	0.0070	20	c.762 others(37): Show c.7620+693_7620+694insCTTTTTCTTTCTTTCTTTCT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	52/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38874273	T T	TCCCTCCC others(13): Show TCCCTCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02559.hp2 HG01891.hp2 HG02486.hp2 HG02559.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0153 a0003c0021t0001g0177 a0003c0021t0001g0178 a0003c0021t0001g0153 a0003c0021t0001g0177 a0003c0021t0001g0178	3	284	0.0106	20	c.762 others(37): Show c.7620+917_7620+936dupCCCCTCCCCTCCCCTCCCCT	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	52/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH8_chr6_38710311_39035792	38932216	A A	ACACACAC others(13): Show ACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0002 a0001c0040t0002	a0001c0040t0002g0133 a0001c0040t0002g0133	1	284	0.0035	20	c.114 others(39): Show c.11457+224_11457+225insACACACACACACACACACCC	DNAH8	ENSG00000124721.18	transcript	ENST00000327475.11	protein_coding	76/92		INFO_REALIGN_3_PRIME	chr6	TogoVar
DNAH9_chr17_11593470_11974748	11654355	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02922.hp2 HG00280.hp2 HG02922.hp2	a0012 a0054 a0012 a0054	a0012c0057 a0054c0095 a0012c0057 a0054c0095	a0012c0057t0001 a0054c0095t0001 a0012c0057t0001 a0054c0095t0001	a0012c0057t0001g0062 a0054c0095t0001g0044 a0012c0057t0001g0062 a0054c0095t0001g0044	2	178	0.0112	20	c.259 others(39): Show c.2595+1357_2595+1376dupAAAAAAAAAAAAAAAAAAAA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	14/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11694837	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0006 a0006	a0006c0133 a0006c0133	a0006c0133t0001 a0006c0133t0001	a0006c0133t0001g0076 a0006c0133t0001g0076	1	178	0.0056	20	c.487 others(37): Show c.4872+393_4872+394insTTTCTTTCTTTCTTTCCTTC	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11812054	T T	TATATATA others(13): Show TATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01169.hp1 HG01978.hp1 others(3): Show HG00621.hp2 HG01169.hp1 HG01978.hp1 HG02523.hp1 HG02723.hp1 NA19085.hp1	a0003 a0012 a0048 others(1): Show a0003 a0012 a0048 a0079	a0003c0007 a0003c0104 a0003c0105 others(3): Show a0003c0007 a0003c0104 a0003c0105 a0012c0056 a0048c0045 a0079c0066	a0003c0007t0001 a0003c0104t0001 a0003c0105t0001 others(3): Show a0003c0007t0001 a0003c0104t0001 a0003c0105t0001 a0012c0056t0001 a0048c0045t0001 a0079c0066t0001	a0003c0007t0001g0151 a0003c0104t0001g0107 a0003c0105t0001g0048 others(3): Show a0003c0007t0001g0151 a0003c0104t0001g0107 a0003c0105t0001g0048 a0012c0056t0001g0127 a0048c0045t0001g0168 a0079c0066t0001g0158	6	178	0.0337	20	c.870 others(39): Show c.8707+1686_8707+1687insTATATATATATATATATACA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	45/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11843863	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0011 a0011	a0011c0132 a0011c0132	a0011c0132t0001 a0011c0132t0001	a0011c0132t0001g0058 a0011c0132t0001g0058	1	178	0.0056	20	c.950 others(39): Show c.9507+8974_9507+8993dupTATATATATATATATATATA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11843863	G G	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02071.hp1 HG02717.hp1 HG02055.hp2 HG02071.hp1 HG02717.hp1	a0003 a0006 a0046 a0003 a0006 a0046	a0003c0140 a0006c0047 a0046c0087 a0003c0140 a0006c0047 a0046c0087	a0003c0140t0001 a0006c0047t0001 a0046c0087t0001 a0003c0140t0001 a0006c0047t0001 a0046c0087t0001	a0003c0140t0001g0051 a0006c0047t0001g0068 a0046c0087t0001g0120 a0003c0140t0001g0051 a0006c0047t0001g0068 a0046c0087t0001g0120	3	178	0.0169	20	c.950 others(39): Show c.9507+8966_9507+8967insGTGTGTATATATATATATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11843863	G G	GTGTGTGT others(13): Show GTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0004 a0004	a0004c0054 a0004c0054	a0004c0054t0001 a0004c0054t0001	a0004c0054t0001g0144 a0004c0054t0001g0144	1	178	0.0056	20	c.950 others(39): Show c.9507+8966_9507+8967insGTGTGTGTATATATATATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11843863	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA18971.hp1 NA19012.hp1 HG04115.hp1 NA18971.hp1 NA19012.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0009 a0003c0048 a0005c0004 a0002c0009 a0003c0048 a0005c0004	a0002c0009t0001 a0003c0048t0001 a0005c0004t0001 a0002c0009t0001 a0003c0048t0001 a0005c0004t0001	a0002c0009t0001g0119 a0003c0048t0001g0130 a0005c0004t0001g0092 a0002c0009t0001g0119 a0003c0048t0001g0130 a0005c0004t0001g0092	3	178	0.0169	20	c.950 others(39): Show c.9507+8966_9507+8967insGTGTGTGTGTATATATATAT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	49/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11926035	G G	GAAAAAAA others(13): Show GAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0002 a0009c0025t0002	a0009c0025t0002g0019 a0009c0025t0002g0019	1	178	0.0056	20	c.118 others(41): Show c.11877+2102_11877+2121dupAAAAAAAAAAAAAAAAAAAA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	62/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11939807	C C	CATGGATG others(13): Show CATGGATGGATGGATGGATGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0061 a0061	a0061c0138 a0061c0138	a0061c0138t0001 a0061c0138t0001	a0061c0138t0001g0176 a0061c0138t0001g0176	1	178	0.0056	20	c.126 others(41): Show c.12660+2305_12660+2324dupGATGGATGGATGGATGGATG	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	66/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH9_chr17_11593470_11974748	11973148	C C	CTGGGCTT others(13): Show CTGGGCTTGCCTCCTTCACTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03195.hp2 HG02809.hp1 HG03195.hp2	a0015 a0015	a0015c0021 a0015c0086 a0015c0021 a0015c0086	a0015c0021t0001 a0015c0086t0001 a0015c0021t0001 a0015c0086t0001	a0015c0021t0001g0003 a0015c0086t0001g0097 a0015c0021t0001g0003 a0015c0086t0001g0097	2	178	0.0112	20	c.36 others(31): Show c.3621_*3622insTGGGCTTGCCTCCTTCACTA	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding		3401		chr17	TogoVar
DNAI1_chr9_34453805_34525984	34492493	G G	GAGAGAGA others(13): Show GAGAGAGATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0147 a0004c0004t0001g0147	1	382	0.0026	20	c.682 others(35): Show c.682-700_682-699insGAGAGATATATATATATATA	DNAI1	ENSG00000122735.16	transcript	ENST00000242317.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAI1_chr9_34453805_34525984	34492493	G G	GAGATATA others(13): Show GAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	382	0.0026	20	c.682 others(35): Show c.682-700_682-699insGATATATATATATATATATA	DNAI1	ENSG00000122735.16	transcript	ENST00000242317.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAI1_chr9_34453805_34525984	34492493	G G	GATAGATA others(13): Show GATAGATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0331 a0002c0002t0001g0331	1	382	0.0026	20	c.682 others(35): Show c.682-698_682-697insGATATATATATATATATATA	DNAI1	ENSG00000122735.16	transcript	ENST00000242317.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAI1_chr9_34453805_34525984	34492493	G G	GATATATA others(13): Show GATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02027.hp2 HG02040.hp2 others(5): Show HG01952.hp1 HG02027.hp2 HG02040.hp2 HG03017.hp1 NA18959.hp2 NA18962.hp1 NA19063.hp2 NA19066.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0109 others(5): Show a0001c0001t0001g0080 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0179 a0003c0003t0001g0164 a0003c0003t0002g0208 a0003c0003t0002g0219	8	382	0.0209	20	c.682 others(35): Show c.682-678_682-659dupATATATATATATATATATAT	DNAI1	ENSG00000122735.16	transcript	ENST00000242317.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAI2_chr17_74269234_74319884	74301878	G G	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0002 a0009c0025t0002	a0009c0025t0002g0369 a0009c0025t0002g0369	1	398	0.0025	20	c.987 others(35): Show c.987+729_987+730insAGAAGGAAGGAAGGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI3_chr1_85057327_85138138	85110450	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00639.hp2 others(17): Show HG00280.hp2 HG00408.hp2 HG00639.hp2 HG01081.hp1 HG01099.hp2 HG01433.hp2 HG02056.hp2 HG02080.hp1 HG02165.hp2 HG02523.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03540.hp2 HG03710.hp1 NA18951.hp1 NA19010.hp1 NA19088.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0003c0003t0002 a0004c0006t0002	a0001c0001t0001g0076 a0001c0001t0001g0108 a0001c0001t0001g0161 others(17): Show a0001c0001t0001g0076 a0001c0001t0001g0108 a0001c0001t0001g0161 a0001c0001t0001g0257 a0001c0001t0001g0303 a0001c0001t0001g0313 a0001c0001t0001g0356 a0001c0005t0001g0049 a0001c0005t0001g0309 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0268 a0002c0002t0001g0346 a0003c0003t0002g0177 a0003c0003t0002g0183 a0003c0003t0002g0353 a0003c0003t0002g0354 a0004c0006t0002g0112 a0004c0006t0002g0182	20	374	0.0535	20	c.178 others(37): Show c.1786+329_1786+348dupAATAAATAAATAAATAAATA	DNAI3	ENSG00000162643.13	transcript	ENST00000294664.11	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAI4_chr1_66807885_66929856	66869073	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	264	0.0038	20	c.940 others(37): Show c.940+2277_940+2296dupATTTATTTATTTATTTATTT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	6/16			chr1	TogoVar
DNAI4_chr1_66807885_66929856	66892950	G G	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18941.hp1 NA18966.hp1 others(1): Show HG02559.hp1 NA18941.hp1 NA18966.hp1 NA18992.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0003t0001 a0003c0005t0001 a0001c0001t0001 a0001c0003t0001 a0003c0005t0001	a0001c0001t0001g0042 a0001c0003t0001g0053 a0001c0003t0001g0110 others(1): Show a0001c0001t0001g0042 a0001c0003t0001g0053 a0001c0003t0001g0110 a0003c0005t0001g0230	4	264	0.0152	20	c.530 others(35): Show c.530+259_530+278dupTCTTTCTTTCTTTCTTTCTT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	3/16			chr1	TogoVar
DNAI4_chr1_66807885_66929856	66893063	G G	GAGAAAGA others(13): Show GAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19083.hp1 NA19079.hp1 NA19083.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0006 a0001c0003 a0004c0006	a0001c0003t0001 a0004c0006t0001 a0001c0003t0001 a0004c0006t0001	a0001c0003t0001g0030 a0004c0006t0001g0234 a0001c0003t0001g0030 a0004c0006t0001g0234	2	264	0.0076	20	c.530 others(35): Show c.530+146_530+165dupTTCTTTCTTTCTTTCTTTCT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	3/16			chr1	TogoVar
DNAI4_chr1_66807885_66929856	66909285	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02738.hp1 HG02922.hp1 others(4): Show HG01884.hp1 HG02738.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03516.hp2 HG03654.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0004 a0002c0007 others(1): Show a0001c0001 a0002c0004 a0002c0007 a0008c0015	a0001c0001t0001 a0002c0004t0001 a0002c0007t0001 others(1): Show a0001c0001t0001 a0002c0004t0001 a0002c0007t0001 a0008c0015t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0151 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0151 a0001c0001t0001g0152 a0002c0004t0001g0150 a0002c0007t0001g0196 a0008c0015t0001g0201	7	264	0.0265	20	c.171 others(37): Show c.171-3930_171-3911dupGTGTGTGTGTGTGTGTGTGT	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding	1/16			chr1	TogoVar
DNAI4_chr1_66807885_66929856	66924858	A A	AGGCGGGG others(13): Show AGGCGGGGGGGGGGCGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0221 a0009c0016t0001g0221	1	264	0.0038	20	c.-28 others(27): Show c.-28_-27insCCCTCCGCCCCCCCCCCGCC	DNAI4	ENSG00000152763.17	transcript	ENST00000371026.8	protein_coding		3		chr1	TogoVar
DNAI7_chr12_25103289_25200160	25108825	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp1 HG02976.hp2 HG01070.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0079 a0002c0002t0001g0271 a0001c0001t0001g0079 a0002c0002t0001g0271	2	336	0.0060	20	c.189 others(33): Show c.1894-3_1894-2insTTTTTTTTTTTTTTTTTTTT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	15/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25124032	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG02647.hp2 others(4): Show HG00323.hp1 HG00408.hp2 HG02647.hp2 HG02735.hp1 NA18955.hp2 NA19054.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0145	7	336	0.0208	20	c.100 others(37): Show c.1003-766_1003-747dupCACACACACACACACACACA	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	9/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25182605	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	336	0.0030	20	c.21+ others(35): Show c.21+7989_21+8008dupGTGTGTGTGTGTGTGTGTGT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25199619	T T	TACACACA others(13): Show TACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG02559.hp1 HG01433.hp2 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0265 a0002c0002t0001g0305 a0002c0002t0001g0265 a0002c0002t0001g0305	2	336	0.0060	20	c.-45 others(31): Show c.-4561_-4542dupGTGTGTGTGTGTGTGTGTGT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		4460		chr12	TogoVar
DNAJA1_chr9_33020273_33044907	33039536	C C	CATATATA others(13): Show CATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG02818.hp2 HG01257.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0007 a0001c0001t0027g0031 a0001c0001t0027g0007 a0001c0001t0027g0031	2	444	0.0045	20	c.64 others(29): Show c.644_*645insTATATATATATATATATATA	DNAJA1	ENSG00000086061.16	transcript	ENST00000330899.5	protein_coding	9/9	645	INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJA4_chr15_78259562_78287191	78267168	G G	GTGTGAGT others(13): Show GTGTGAGTGTGTGAGTGTGTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02895.hp1 others(2): Show HG01243.hp1 HG02055.hp1 HG02895.hp1 HG02965.hp2 NA19043.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0005c0006 others(1): Show a0001c0001 a0001c0002 a0005c0006 a0006c0009	a0001c0001t0007 a0001c0001t0024 a0001c0002t0001 others(2): Show a0001c0001t0007 a0001c0001t0024 a0001c0002t0001 a0005c0006t0025 a0006c0009t0001	a0001c0001t0007g0190 a0001c0001t0024g0191 a0001c0002t0001g0189 others(2): Show a0001c0001t0007g0190 a0001c0001t0024g0191 a0001c0002t0001g0189 a0005c0006t0025g0128 a0006c0009t0001g0127	5	442	0.0113	20	c.132 others(37): Show c.132+2292_132+2293insATGTGAGTGTGTGAGTGTGT	DNAJA4	ENSG00000140403.13	transcript	ENST00000394852.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
DNAJB11_chr3_186565720_186590793	186569305	A A	ATTATTTA others(13): Show ATTATTTATTTATTTATTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02717.hp2 HG02735.hp2 others(2): Show HG02300.hp2 HG02717.hp2 HG02735.hp2 HG02976.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0016 a0002c0002t0001g0047 others(2): Show a0002c0002t0001g0002 a0002c0002t0001g0016 a0002c0002t0001g0047 a0002c0002t0001g0074 a0002c0002t0001g0078	5	370	0.0135	20	c.-15 others(31): Show c.-1593_-1592insTTATTTATTTATTTATTTAT	DNAJB11	ENSG00000090520.12	transcript	ENST00000265028.8	protein_coding		1414		chr3	TogoVar

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