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
GALM_chr2_38661114_38739765	38675526	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	328	0.0031	-17	c.191 others(32): Show c.191-384_191-368delTTTTTTTTTTTTTTTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38675534	TTTTTTTT others(10): Show TTTTTTTTTTTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0227 a0001c0001t0013g0227	1	328	0.0031	-17	c.191 others(32): Show c.191-376_191-360delTTTTTTTTTGTGTGTGT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38675544	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	328	0.0031	-17	c.191 others(32): Show c.191-367_191-351delGTGTGTGTGTGTGTGTG	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	1/6			chr2	TogoVar
GALM_chr2_38661114_38739765	38683535	CTCAGATT others(10): Show CTCAGATTTTGGAGCATT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02572.hp2 HG02615.hp2 others(10): Show HG01243.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02818.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03579.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0003t0035 a0001c0001t0005 a0001c0003t0005 a0001c0003t0035	a0001c0001t0005g0205 a0001c0003t0005g0215 a0001c0003t0005g0216 others(10): Show a0001c0001t0005g0205 a0001c0003t0005g0215 a0001c0003t0005g0216 a0001c0003t0005g0217 a0001c0003t0005g0218 a0001c0003t0005g0219 a0001c0003t0005g0220 a0001c0003t0005g0222 a0001c0003t0005g0223 a0001c0003t0005g0224 a0001c0003t0005g0225 a0001c0003t0005g0226 a0001c0003t0035g0221	13	328	0.0396	-17	c.552 others(34): Show c.552+2059_552+2075delGGAGCATTTCAGATTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNS_chr16_88808734_88861947	88825200	TGCCTGGG others(10): Show TGCCTGGGTGTCTGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp2 HG01175.hp1 others(19): Show HG00741.hp2 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01496.hp1 HG01952.hp1 HG02132.hp1 HG02148.hp1 HG02293.hp1 HG02602.hp1 HG02717.hp2 HG02818.hp1 HG03704.hp1 HG04115.hp2 NA18970.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18991.hp2 NA19079.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0010 a0002c0026 a0002c0003 a0002c0010 a0002c0026	a0002c0003t0001 a0002c0003t0020 a0002c0010t0001 others(1): Show a0002c0003t0001 a0002c0003t0020 a0002c0010t0001 a0002c0026t0001	a0002c0003t0001g0002 a0002c0003t0001g0023 a0002c0003t0001g0157 others(18): Show a0002c0003t0001g0002 a0002c0003t0001g0023 a0002c0003t0001g0157 a0002c0003t0001g0161 a0002c0003t0001g0192 a0002c0003t0001g0223 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0230 a0002c0003t0001g0252 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0284 a0002c0003t0001g0288 a0002c0003t0001g0311 a0002c0003t0001g0344 a0002c0003t0001g0366 a0002c0003t0001g0375 a0002c0003t0020g0345 a0002c0010t0001g0158 a0002c0026t0001g0039	22	404	0.0545	-17	c.114 others(34): Show c.1140-348_1140-332delGCCCCAGACACCCAGGC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	10/13			chr16	TogoVar
GALNT10_chr5_154185733_154425984	154339433	TAAACCTT others(10): Show TAAACCTTTTGGTGGACA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0149 a0001c0016t0005g0149	1	236	0.0042	-17	c.568 others(34): Show c.568+9696_568+9712delAAACCTTTTGGTGGACA	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	4/11			chr5	TogoVar
GALNT10_chr5_154185733_154425984	154363492	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02258.hp1 HG02717.hp2 others(7): Show HG01106.hp2 HG02258.hp1 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0010	a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 others(5): Show a0001c0001t0003 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0009 a0001c0003t0014 a0001c0004t0009 a0003c0010t0030	a0001c0001t0003g0052 a0001c0002t0003g0185 a0001c0002t0004g0027 others(7): Show a0001c0001t0003g0052 a0001c0002t0003g0185 a0001c0002t0004g0027 a0001c0002t0004g0030 a0001c0002t0004g0219 a0001c0002t0005g0058 a0001c0002t0009g0031 a0001c0003t0014g0184 a0001c0004t0009g0025 a0003c0010t0030g0066	10	236	0.0424	-17	c.569 others(36): Show c.569-12772_569-12756delAAAAAAAAAAAAAAAAA	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT11_chr7_152020674_152127340	152113712	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01928.hp1 HG01975.hp2 others(2): Show HG01192.hp1 HG01928.hp1 HG01975.hp2 NA18964.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0221 others(2): Show a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0221 a0001c0001t0001g0237 a0001c0001t0001g0280	5	284	0.0176	-17	c.123 others(34): Show c.1233+340_1233+356delTTTTTTTTTTTTTTTTT	GALNT11	ENSG00000178234.13	transcript	ENST00000430044.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT13_chr2_153866922_154458979	154043415	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03688.hp1 NA18747.hp2 others(6): Show HG00735.hp1 HG03688.hp1 NA18747.hp2 NA18939.hp2 NA18959.hp1 NA18961.hp1 NA18990.hp2 NA19063.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0040 a0001c0001t0046 a0001c0001t0071	a0001c0001t0002g0139 a0001c0001t0003g0028 a0001c0001t0012g0182 others(6): Show a0001c0001t0002g0139 a0001c0001t0003g0028 a0001c0001t0012g0182 a0001c0001t0013g0174 a0001c0001t0016g0173 a0001c0001t0016g0176 a0001c0001t0040g0082 a0001c0001t0046g0186 a0001c0001t0071g0175	9	214	0.0421	-17	c.143 others(36): Show c.143-96921_143-96905delATATATATATATATATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154110320	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0121 a0001c0001t0005g0121	1	214	0.0047	-17	c.143 others(36): Show c.143-30016_143-30000delATATATATATATATATA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12			chr2	TogoVar
GALNT13_chr2_153866922_154458979	154277423	GTGCAACA others(10): Show GTGCAACATCTTAAGCTA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02615.hp2 HG03098.hp1 others(3): Show HG02559.hp1 HG02615.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0001c0001t0023 a0001c0001t0033 others(1): Show a0001c0001t0011 a0001c0001t0023 a0001c0001t0033 a0002c0002t0038	a0001c0001t0011g0093 a0001c0001t0011g0097 a0001c0001t0011g0099 others(3): Show a0001c0001t0011g0093 a0001c0001t0011g0097 a0001c0001t0011g0099 a0001c0001t0023g0012 a0001c0001t0033g0061 a0002c0002t0038g0113	6	214	0.0280	-17	c.975 others(36): Show c.975+18288_975+18304delCAACATCTTAAGCTATG	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154354405	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp1 HG01070.hp2 others(40): Show HG00140.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02155.hp2 HG02273.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG03017.hp1 HG03130.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 NA18906.hp1 NA18947.hp1 NA18952.hp2 NA18969.hp1 NA18975.hp1 NA19004.hp2 NA19006.hp2 NA19060.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0041 a0001c0001t0060 a0001c0001t0061 a0001c0001t0076 a0001c0001t0079	a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0035 others(40): Show a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0002g0107 a0001c0001t0003g0010 a0001c0001t0005g0117 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0001t0005g0125 a0001c0001t0005g0141 a0001c0001t0006g0134 a0001c0001t0007g0197 a0001c0001t0008g0057 a0001c0001t0008g0058 a0001c0001t0010g0199 a0001c0001t0010g0201 a0001c0001t0011g0093 a0001c0001t0014g0143 a0001c0001t0014g0144 a0001c0001t0015g0145 a0001c0001t0017g0168 a0001c0001t0021g0140 a0001c0001t0021g0178 a0001c0001t0023g0013 a0001c0001t0025g0142 a0001c0001t0027g0009 a0001c0001t0028g0040 a0001c0001t0029g0164 a0001c0001t0030g0149 a0001c0001t0041g0094 a0001c0001t0060g0069 a0001c0001t0061g0045 a0001c0001t0076g0075 a0001c0001t0079g0088	43	214	0.2009	-17	c.115 others(38): Show c.1157-41563_1157-41547delTTTTTTTTTTTTTTTTT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154449426	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01975.hp2 HG02027.hp2 others(35): Show HG01884.hp1 HG01975.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG03225.hp1 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp2 NA18947.hp1 NA18959.hp2 NA18961.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp1 NA19004.hp1 NA19011.hp2 NA19030.hp1 NA19057.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19083.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 others(16): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0018 a0001c0001t0026 a0001c0001t0028 a0001c0001t0034 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0050 a0001c0001t0057 a0001c0001t0064 a0001c0001t0068 a0001c0001t0069 a0001c0001t0074 a0001c0001t0075	a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0183 others(35): Show a0001c0001t0004g0002 a0001c0001t0004g0003 a0001c0001t0004g0183 a0001c0001t0004g0189 a0001c0001t0004g0193 a0001c0001t0004g0204 a0001c0001t0004g0206 a0001c0001t0004g0208 a0001c0001t0004g0210 a0001c0001t0009g0089 a0001c0001t0009g0091 a0001c0001t0009g0100 a0001c0001t0009g0102 a0001c0001t0009g0104 a0001c0001t0009g0126 a0001c0001t0009g0127 a0001c0001t0010g0202 a0001c0001t0018g0153 a0001c0001t0018g0159 a0001c0001t0018g0165 a0001c0001t0018g0170 a0001c0001t0026g0184 a0001c0001t0026g0185 a0001c0001t0028g0040 a0001c0001t0028g0044 a0001c0001t0034g0118 a0001c0001t0037g0115 a0001c0001t0039g0105 a0001c0001t0040g0082 a0001c0001t0041g0094 a0001c0001t0043g0213 a0001c0001t0050g0155 a0001c0001t0057g0150 a0001c0001t0064g0036 a0001c0001t0068g0177 a0001c0001t0069g0171 a0001c0001t0074g0071 a0001c0001t0075g0085	38	214	0.1776	-17	c.153 others(34): Show c.1531-976_1531-960delAAAAAAAAAAAAAAAAA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT15_chr3_16169680_16235165	16207527	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02970.hp1 HG02976.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0007 a0001c0031 a0001c0007 a0001c0031	a0001c0007t0008 a0001c0031t0024 a0001c0007t0008 a0001c0031t0024	a0001c0007t0008g0184 a0001c0007t0008g0185 a0001c0031t0024g0183 a0001c0007t0008g0184 a0001c0007t0008g0185 a0001c0031t0024g0183	3	388	0.0077	-17	c.912 others(32): Show c.912-975_912-959delAAAAAAAAAAAAAAAAT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding	3/9			chr3	TogoVar
GALNT16_chr14_69255158_69359466	69265164	TCCTGGGC others(10): Show TCCTGGGCCATTTCGAGA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0007 a0003c0004t0001g0007	1	306	0.0033	-17	c.177 others(34): Show c.177+4702_177+4718delGGCCATTTCGAGACCTG	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT16_chr14_69255158_69359466	69312053	AAATCTGT others(10): Show AAATCTGTCTATCTATCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01257.hp1 HG01361.hp2 others(3): Show HG00280.hp2 HG01257.hp1 HG01361.hp2 HG01515.hp2 HG01517.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0003g0032 others(3): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0003g0032 a0001c0001t0003g0084 a0001c0001t0004g0033 a0001c0001t0004g0034	6	306	0.0196	-17	c.178 others(34): Show c.178-8656_178-8640delATCTGTCTATCTATCTA	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT17_chr7_71127144_71718599	71377103	AAAATAAA others(10): Show AAAATAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	76	0.0132	-17	c.423 others(36): Show c.423-11130_423-11114delAATAAAAAAAATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71377105	AATAAAAA others(10): Show AATAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG03579.hp1 HG02922.hp1 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0005t0008 a0001c0001t0002 a0001c0001t0005 a0001c0005t0008	a0001c0001t0002g0027 a0001c0001t0005g0052 a0001c0005t0008g0023 a0001c0001t0002g0027 a0001c0001t0005g0052 a0001c0005t0008g0023	3	76	0.0395	-17	c.423 others(36): Show c.423-11126_423-11110delAAAAAAATATATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT1_chr18_35576740_35716834	35693140	AGGAAGTT others(10): Show AGGAAGTTGAAAGAGTAC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	310	0.0032	-17	c.129 others(34): Show c.1299+836_1299+852delACGGAAGTTGAAAGAGT	GALNT1	ENSG00000141429.14	transcript	ENST00000269195.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALNT3_chr2_165742588_165799247	165745431	CACACACA others(10): Show CACACACACATACACACT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	386	0.0026	-17	c.33 others(28): Show c.3333_*3349delAGTGTGTATGTGTGTGT	GALNT3	ENSG00000115339.14	transcript	ENST00000392701.8	protein_coding		2156		chr2	TogoVar
GALNT3_chr2_165742588_165799247	165747387	ACAATGAG others(10): Show ACAATGAGAAGATAGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	386	0.0026	-17	c.13 others(28): Show c.1377_*1393delACCCTATCTTCTCATTG	GALNT3	ENSG00000115339.14	transcript	ENST00000392701.8	protein_coding		200		chr2	TogoVar
GALNT4_chr12_89514412_89529796	89528984	GTTGAGAT others(10): Show GTTGAGATTTTTAGACAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	1	432	0.0023	-17	c.-44 others(28): Show c.-4452_-4436delGTGTCTAAAAATCTCAA	GALNT4	ENSG00000257594.4	transcript	ENST00000529983.3	protein_coding		4189		chr12	TogoVar
GALNT7_chr4_173163811_173328967	173167583	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02135.hp2 HG02280.hp1 others(11): Show HG00423.hp1 HG02135.hp2 HG02280.hp1 HG02965.hp2 HG03834.hp2 HG04184.hp1 NA18946.hp2 NA18951.hp1 NA18963.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA19012.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0002 a0001c0003t0008 others(1): Show a0001c0002t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012	a0001c0002t0001g0253 a0001c0002t0001g0259 a0001c0002t0001g0260 others(11): Show a0001c0002t0001g0253 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0003t0002g0021 a0001c0003t0002g0247 a0001c0003t0002g0249 a0001c0003t0002g0250 a0001c0003t0002g0251 a0001c0003t0002g0256 a0001c0003t0002g0257 a0001c0003t0002g0258 a0001c0003t0008g0248 a0001c0003t0008g0254 a0001c0003t0012g0255	14	266	0.0526	-17	c.-12 others(28): Show c.-1252_-1236delAAAAAAAAAAAAAAAAA	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding		1227		chr4	TogoVar
GALNT7_chr4_173163811_173328967	173266867	GGGTGTGT others(10): Show GGGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	266	0.0038	-17	c.587 others(36): Show c.587+18429_587+18445delGTGTGTGTGTGTGTGTG	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT9_chr12_132191372_132334589	132292115	GTCCCTGC others(10): Show GTCCCTGCCTCATTTTCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00733.hp2 others(37): Show HG00140.hp1 HG00280.hp1 HG00733.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG02027.hp2 HG02080.hp2 HG02148.hp2 HG02280.hp1 HG02280.hp2 HG02683.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG03688.hp1 HG03942.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18980.hp1 NA19002.hp1 NA19007.hp2 NA19056.hp1 NA19067.hp1 NA19085.hp1 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0026 a0001c0029 a0001c0034 a0001c0035 a0001c0036 a0001c0038 a0002c0032	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(14): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0002 a0001c0009t0002 a0001c0010t0001 a0001c0026t0014 a0001c0029t0003 a0001c0034t0004 a0001c0035t0009 a0001c0036t0003 a0001c0038t0001 a0002c0032t0002	a0001c0001t0001g0017 a0001c0002t0001g0068 a0001c0002t0001g0069 others(37): Show a0001c0001t0001g0017 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0005g0066 a0001c0004t0001g0016 a0001c0004t0001g0020 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0008 a0001c0005t0001g0088 a0001c0006t0001g0013 a0001c0006t0001g0097 a0001c0007t0001g0061 a0001c0007t0001g0104 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0009t0002g0168 a0001c0009t0002g0169 a0001c0009t0002g0174 a0001c0009t0002g0175 a0001c0009t0002g0177 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 a0001c0010t0001g0089 a0001c0026t0014g0052 a0001c0029t0003g0107 a0001c0034t0004g0158 a0001c0035t0009g0140 a0001c0036t0003g0055 a0001c0038t0001g0046 a0002c0032t0002g0167	40	183	0.2186	-17	c.239 others(34): Show c.239-5702_239-5686delGGAAAATGAGGCAGGGA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132295907	AGCCTCCG others(10): Show AGCCTCCGAACAGGGACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(71): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00639.hp2 HG00733.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01361.hp2 HG01943.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02280.hp1 HG02280.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03942.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18945.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18980.hp1 NA18999.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19085.hp1 NA19085.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0018 a0001c0019 a0001c0026 a0001c0029 a0001c0030 a0001c0031 a0001c0034 a0001c0036 a0001c0038 a0002c0032	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(22): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0007t0010 a0001c0008t0002 a0001c0009t0002 a0001c0010t0001 a0001c0011t0001 a0001c0018t0001 a0001c0019t0003 a0001c0026t0014 a0001c0029t0003 a0001c0030t0001 a0001c0031t0001 a0001c0034t0004 a0001c0036t0003 a0001c0038t0001 a0002c0032t0002	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 others(71): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0008g0003 a0001c0002t0001g0034 a0001c0002t0001g0053 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0134 a0001c0002t0001g0141 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0005g0066 a0001c0002t0013g0021 a0001c0003t0001g0093 a0001c0004t0001g0016 a0001c0004t0001g0020 a0001c0004t0001g0056 a0001c0004t0001g0109 a0001c0004t0001g0112 a0001c0004t0001g0154 a0001c0004t0001g0157 a0001c0005t0001g0008 a0001c0005t0001g0088 a0001c0005t0001g0113 a0001c0006t0001g0013 a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0097 a0001c0006t0001g0142 a0001c0007t0001g0061 a0001c0007t0001g0104 a0001c0007t0001g0138 a0001c0007t0001g0159 a0001c0007t0010g0108 a0001c0008t0002g0170 a0001c0008t0002g0171 a0001c0008t0002g0172 a0001c0008t0002g0173 a0001c0008t0002g0182 a0001c0009t0002g0168 a0001c0009t0002g0169 a0001c0009t0002g0174 a0001c0009t0002g0175 a0001c0009t0002g0177 a0001c0010t0001g0085 a0001c0010t0001g0086 a0001c0010t0001g0087 a0001c0010t0001g0089 a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0018t0001g0039 a0001c0019t0003g0077 a0001c0019t0003g0145 a0001c0026t0014g0052 a0001c0029t0003g0107 a0001c0030t0001g0110 a0001c0031t0001g0038 a0001c0034t0004g0158 a0001c0036t0003g0055 a0001c0038t0001g0046 a0002c0032t0002g0167	74	183	0.4044	-17	c.239 others(34): Show c.239-9494_239-9478delCGTCCCTGTTCGGAGGC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
GALNTL5_chr7_151951446_152024929	151995348	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01516.hp1 HG02056.hp1 others(9): Show HG01106.hp1 HG01516.hp1 HG02056.hp1 HG02074.hp2 HG02135.hp1 HG02572.hp2 NA18953.hp1 NA18953.hp2 NA18965.hp2 NA18975.hp2 NA19000.hp1 NA19030.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0010	a0001c0001 a0003c0003 a0004c0004 others(2): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005 a0010c0008	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0004c0004t0002 a0005c0005t0001 a0010c0008t0002	a0001c0001t0001g0097 a0001c0001t0002g0152 a0003c0003t0001g0060 others(9): Show a0001c0001t0001g0097 a0001c0001t0002g0152 a0003c0003t0001g0060 a0003c0003t0001g0204 a0003c0003t0001g0243 a0003c0003t0001g0245 a0004c0004t0002g0121 a0004c0004t0002g0125 a0004c0004t0002g0133 a0005c0005t0001g0032 a0005c0005t0001g0363 a0010c0008t0002g0163	12	384	0.0313	-17	c.659 others(34): Show c.659-7340_659-7324delTTTTTTTTTTTTTTTTT	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNTL6_chr4_171808404_173046559	172109013	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02145.hp2 HG02258.hp2 others(14): Show HG02015.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0002t0002 a0001c0002t0003 a0001c0004t0002	a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0036 others(14): Show a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0006g0020 a0001c0001t0007g0006 a0001c0001t0009g0024 a0001c0002t0002g0007 a0001c0002t0003g0001 a0001c0004t0002g0038	17	40	0.4250	-17	c.139 others(38): Show c.139-120630_139-120614delAAAAAAAAAAAAAAAAA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172405435	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	40	0.0250	-17	c.553 others(36): Show c.553+56748_553+56764delATATATATTTTTTTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172405439	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	40	0.0250	-17	c.553 others(36): Show c.553+56752_553+56768delATATTTTTTTTTTTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172602401	ATAACAGT others(10): Show ATAACAGTACTATAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03130.hp2 HG02451.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0023 a0001c0001t0006g0020 a0001c0001t0001g0023 a0001c0001t0006g0020	2	40	0.0500	-17	c.554 others(38): Show c.554-206956_554-206940delCAGTACTATAAAGGTAA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172759799	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp2 HG02015.hp1 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0033 a0001c0001t0001g0040	2	40	0.0500	-17	c.554 others(36): Show c.554-49530_554-49514delTTTTTTTTTTTTTTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALP_chr19_56171008_56190775	56180907	CTTTCTTT others(10): Show CTTTCTTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0331 a0002c0003t0001g0331	1	444	0.0023	-17	c.136 others(32): Show c.136+277_136+293delCTTTCTTTTTTTTTTTT	GALP	ENSG00000197487.9	transcript	ENST00000357330.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
GALR2_chr17_76069781_76082537	76072365	GTTCGTTT others(10): Show GTTCGTTTTCTTTATTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	405	0.0025	-17	c.-25 others(28): Show c.-2518_-2502delTTCGTTTTCTTTATTTT	GALR2	ENSG00000182687.4	transcript	ENST00000329003.4	protein_coding		2415		chr17	TogoVar
GALT_chr9_34641675_34656035	34644302	TATATATA others(10): Show TATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 NA19000.hp1 HG00642.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	416	0.0048	-17	c.-24 others(28): Show c.-2402_-2386delATATATATATATATATA	GALT	ENSG00000213930.12	transcript	ENST00000378842.8	protein_coding		2372		chr9	TogoVar
GANAB_chr11_62619829_62651613	62638583	GAAGGAAG others(10): Show GAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	308	0.0033	-17	c.380 others(32): Show c.380+383_380+399delTCCTTCCTTCCTTCCTT	GANAB	ENSG00000089597.18	transcript	ENST00000356638.8	protein_coding	4/23			chr11	TogoVar
GAN_chr16_81309962_81395809	81325028	CCAGGGAT others(10): Show CCAGGGATGGCTCCCAGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00558.hp2 others(47): Show HG00099.hp1 HG00408.hp2 HG00558.hp2 HG01069.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp2 HG02148.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp2 HG02895.hp2 HG02897.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG04184.hp1 NA18747.hp2 NA18939.hp1 NA18945.hp2 NA18946.hp2 NA18952.hp2 NA18953.hp1 NA18961.hp1 NA18962.hp2 NA18966.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18989.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp2 NA19006.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp2 NA19078.hp2 NA19080.hp2 NA19087.hp2 NA19091.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0025 a0001c0001t0031 a0001c0001t0038 a0001c0001t0039 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0086 a0001c0001t0088 a0001c0001t0130 a0001c0001t0131 a0001c0001t0143 a0001c0001t0161 a0001c0001t0163 a0001c0001t0164 a0001c0001t0171 a0001c0001t0176 a0001c0001t0177 a0001c0008t0004	a0001c0001t0001g0056 a0001c0001t0002g0028 a0001c0001t0004g0041 others(45): Show a0001c0001t0001g0056 a0001c0001t0002g0028 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0006g0058 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0007g0029 a0001c0001t0009g0005 a0001c0001t0009g0030 a0001c0001t0009g0031 a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0009g0062 a0001c0001t0009g0063 a0001c0001t0015g0055 a0001c0001t0015g0069 a0001c0001t0015g0070 a0001c0001t0018g0006 a0001c0001t0018g0068 a0001c0001t0025g0047 a0001c0001t0025g0052 a0001c0001t0031g0050 a0001c0001t0031g0051 a0001c0001t0038g0059 a0001c0001t0039g0061 a0001c0001t0056g0057 a0001c0001t0057g0064 a0001c0001t0058g0053 a0001c0001t0059g0044 a0001c0001t0086g0039 a0001c0001t0088g0040 a0001c0001t0130g0184 a0001c0001t0131g0078 a0001c0001t0143g0032 a0001c0001t0161g0033 a0001c0001t0163g0034 a0001c0001t0164g0035 a0001c0001t0171g0071 a0001c0001t0176g0167 a0001c0001t0177g0060 a0001c0008t0004g0054	50	384	0.1302	-17	c.167 others(34): Show c.167+9768_167+9784delGGGATGGCTCCCAGGCA	GAN	ENSG00000261609.8	transcript	ENST00000648994.2	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GAP43_chr3_115618510_115726483	115698131	AATATATA others(10): Show AATATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	352	0.0028	-17	c.628 others(36): Show c.628+21522_628+21538delATATATATAATATATAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GAPVD1_chr9_125256826_125372207	125300039	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00738.hp2 others(19): Show HG00099.hp2 HG00438.hp2 HG00738.hp2 HG00741.hp1 HG01123.hp2 HG01175.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG03017.hp1 HG03471.hp1 HG03704.hp2 HG04204.hp1 NA18962.hp1 NA18965.hp1 NA18968.hp2 NA18977.hp1 NA18994.hp2 NA18999.hp2 NA19055.hp2 NA19085.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0036 a0001c0002t0003	a0001c0001t0002g0015 a0001c0001t0002g0044 a0001c0001t0002g0066 others(19): Show a0001c0001t0002g0015 a0001c0001t0002g0044 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0155 a0001c0001t0008g0047 a0001c0001t0008g0050 a0001c0001t0008g0110 a0001c0001t0012g0101 a0001c0001t0015g0064 a0001c0001t0016g0046 a0001c0001t0036g0088 a0001c0002t0003g0139	22	340	0.0647	-17	c.185 others(32): Show c.185+934_185+950delTATATATATATATATAT	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27			chr9	TogoVar
GARRE1_chr19_34249554_34360566	34290874	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	326	0.0031	-17	c.-79 others(36): Show c.-795-8771_-795-8755delTTTTTTTTTTTTTTTTT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS2L3_chr12_100568684_100633288	100572812	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02683.hp1 NA18954.hp2 HG01099.hp1 HG02683.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0088 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0088	3	402	0.0075	-17	c.-11 others(28): Show c.-1124_-1108delAAAAAAAAAAAAAAAAA	GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding		871		chr12	TogoVar
GAS2L3_chr12_100568684_100633288	100625507	TGGCTTAT others(10): Show TGGCTTATATTTACATTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0159 a0001c0001t0025g0159	1	402	0.0025	-17	c.61 others(26): Show c.619_*635delGCTTATATTTACATTGG	GAS2L3	ENSG00000139354.11	transcript	ENST00000547754.6	protein_coding	10/10	619	INFO_REALIGN_3_PRIME	chr12	TogoVar
GASK1B_chr4_158119474_158178025	158141920	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02055.hp2 HG02258.hp2 others(9): Show HG01257.hp2 HG02055.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG02895.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0004 a0001c0002t0008 others(2): Show a0001c0001t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0025 a0001c0002t0026	a0001c0001t0002g0165 a0001c0002t0004g0046 a0001c0002t0004g0048 others(7): Show a0001c0001t0002g0165 a0001c0002t0004g0046 a0001c0002t0004g0048 a0001c0002t0004g0049 a0001c0002t0004g0050 a0001c0002t0004g0051 a0001c0002t0004g0054 a0001c0002t0008g0014 a0001c0002t0025g0047 a0001c0002t0026g0190	12	292	0.0411	-17	c.112 others(38): Show c.1126-10925_1126-10909delAAAAAAAAAAAAAAAAA	GASK1B	ENSG00000164125.16	transcript	ENST00000585682.6	protein_coding	3/4			chr4	TogoVar
GATAD2A_chr19_19400675_19513932	19440243	ATTTTTAT others(10): Show ATTTTTATTTTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0003 a0001c0001t0049g0003	1	298	0.0034	-17	c.-6- others(34): Show c.-6-25077_-6-25061delTTTATTTTTATTTATTT	GATAD2A	ENSG00000167491.18	transcript	ENST00000683918.1	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
GATB_chr4_151665504_151766007	151718887	AGTAACTG others(10): Show AGTAACTGGACCAACAGT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 others(1): Show a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309	4	320	0.0125	-17	c.441 others(32): Show c.441+521_441+537delACTGTTGGTCCAGTTAC	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	3/12			chr4	TogoVar
GATB_chr4_151665504_151766007	151750418	GCTATGTG others(10): Show GCTATGTGACAATCCTTC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02818.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 others(1): Show a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309	4	320	0.0125	-17	c.327 others(34): Show c.327+8337_327+8353delGAAGGATTGTCACATAG	GATB	ENSG00000059691.12	transcript	ENST00000263985.11	protein_coding	2/12			chr4	TogoVar
GATD1_chr11_762222_782487	766888	GCATGGGG others(10): Show GCATGGGGCTGTGTCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0069 a0001c0002t0028g0069	1	430	0.0023	-17	c.39 others(28): Show c.3992_*4008delAGGGACACAGCCCCATG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		333		chr11	TogoVar
GBE1_chr3_81484703_81766645	81597443	AAAATATA others(10): Show AAAATATATATATATCTC	A A	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18993.hp1 NA19064.hp1 NA18990.hp2 NA18993.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118	3	304	0.0099	-17	c.993 others(34): Show c.993-3437_993-3421delGAGATATATATATATTT	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	7/15			chr3	TogoVar
GBE1_chr3_81484703_81766645	81688425	ACTAAAAG others(10): Show ACTAAAAGAAATTTTCAC	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	304	0.0033	-17	c.313 others(36): Show c.313+17002_313+17018delGTGAAAATTTCTTTTAG	GBE1	ENSG00000114480.13	transcript	ENST00000429644.7	protein_coding	2/15			chr3	TogoVar
GBGT1_chr9_133147948_133168914	133168366	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	446	0.0022	-17	c.-47 others(28): Show c.-4750_-4734delAGAGAGAGAGAGAGAGA	GBGT1	ENSG00000148288.13	transcript	ENST00000372040.9	protein_coding		4453		chr9	TogoVar

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