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
GGT1_chr22_24598193_24633996	24605208	ATATTATA others(103): Show ATATTATATATTATATAATATGTATTATATTATATATTATATAATATGTA TTATATATTATATAATATGTATTATATATTATATAATATGTATTATATAT TATATAATATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19030.hp2 HG02451.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0011 a0001c0006 a0002c0011	a0001c0006t0001 a0002c0011t0005 a0001c0006t0001 a0002c0011t0005	a0001c0006t0001g0265 a0002c0011t0005g0267 a0001c0006t0001g0265 a0002c0011t0005g0267	2	412	0.0049	-110	c.-42 others(19): Show c.-429+1711_-429+1820del	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GOLGA3_chr12_132763914_132833869	132787567	TGAGACCC others(103): Show TGAGACCCCGGGACCCCTCCCCAGAACCCCTGGGACCCTTCCCCGGAGAC CCCGGGACCCCTCCCCGGAGACCACGGGACCCCTCCCCGGAGACCCCGGG ACCCCTCCCCG	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	285	0.0035	-110	c.281 others(17): Show c.2812-890_2812-781del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132787662	CCGGGACC others(103): Show CCGGGACCCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGA CCCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGACCCCTC CCCGGAGACCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02129.hp1 others(4): Show HG01891.hp2 HG02055.hp1 HG02129.hp1 HG02280.hp2 HG02698.hp1 HG02922.hp2 HG03486.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0028 a0002c0002 a0012c0028	a0002c0002t0002 a0002c0002t0006 a0002c0002t0012 others(1): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0012 a0012c0028t0006	a0002c0002t0002g0067 a0002c0002t0002g0256 a0002c0002t0002g0259 others(4): Show a0002c0002t0002g0067 a0002c0002t0002g0256 a0002c0002t0002g0259 a0002c0002t0002g0273 a0002c0002t0006g0272 a0002c0002t0012g0295 a0012c0028t0006g0230	7	293	0.0239	-110	c.281 others(17): Show c.2812-985_2812-876del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132787684	CCGGGACC others(103): Show CCGGGACCCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGA CCCCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCACGGGACCCCTC CCCGGAGACCA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG01361.hp2 others(4): Show HG00741.hp2 HG01106.hp1 HG01361.hp2 HG03669.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0008 a0002c0002 a0002c0008	a0002c0002t0002 a0002c0002t0057 a0002c0008t0047 a0002c0002t0002 a0002c0002t0057 a0002c0008t0047	a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 others(4): Show a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0304 a0002c0002t0002g0306 a0002c0002t0057g0246 a0002c0008t0047g0193	7	294	0.0238	-110	c.281 others(18): Show c.2812-1007_2812-898del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23			chr12	TogoVar
GRID2IP_chr7_6491778_6556461	6494032	AGCAGGCC others(103): Show AGCAGGCCAGGCGCAGTGGCTCACACCTGTAATCCCAGCACTCTGGAAGG CCGAGGAGGGTGGATCACGAGGTCAGAAGATTGAGACCATCCTGGCTAAC ACAGTGAAACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG01928.hp2 others(9): Show HG00609.hp2 HG00642.hp2 HG01928.hp2 HG01943.hp1 HG02155.hp1 HG02738.hp2 HG03492.hp1 NA18747.hp1 NA18985.hp2 NA19000.hp2 NA19082.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0010 others(2): Show a0001c0004 a0001c0006 a0001c0010 a0001c0015 a0002c0001	a0001c0004t0001 a0001c0006t0001 a0001c0010t0001 others(2): Show a0001c0004t0001 a0001c0006t0001 a0001c0010t0001 a0001c0015t0001 a0002c0001t0001	a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0152 others(9): Show a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0152 a0001c0004t0001g0154 a0001c0004t0001g0156 a0001c0004t0001g0158 a0001c0004t0001g0182 a0001c0006t0001g0224 a0001c0010t0001g0208 a0001c0015t0001g0046 a0002c0001t0001g0313 a0002c0001t0001g0348	12	364	0.0330	-110	c.36 others(11): Show c.3632_*3741del	GRID2IP	ENSG00000215045.9	transcript	ENST00000457091.3	protein_coding		2745		chr7	TogoVar
GRID2_chr4_92298966_93779566	93244489	CTATTAAT others(103): Show CTATTAATTAATAGATTATATAATCTATTAATTAATAGATTATATAATCT ATTAATTAATAGATTATATAATCTATTATATATTAATTAATAGATTATAT AATCTATTATA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02922.hp2 HG03041.hp2 others(4): Show HG01978.hp2 HG02922.hp2 HG03041.hp2 HG03225.hp2 HG03486.hp2 NA18942.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0002t0001g0002 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0002t0001g0002 a0001c0002t0001g0026 a0001c0006t0002g0030 a0002c0003t0001g0012 a0002c0003t0001g0034	7	9	0.7778	-110	c.124 others(19): Show c.1245+6029_1245+6138del	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
HACL1_chr3_15555699_15606569	15592908	ACGCACAT others(103): Show ACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGTGTATAC ACATGTACGCACATGTGTGCGTGTATACACATGTACGCACATGTGTGCGT GTATACACATG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02129.hp2 others(6): Show HG01167.hp1 HG01169.hp1 HG02129.hp2 HG03017.hp2 HG03139.hp1 NA18947.hp1 NA18984.hp2 NA19058.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0003 a0001c0001t0001 a0001c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0134 a0001c0001t0001g0153 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0134 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0003t0003g0069	9	422	0.0213	-110	c.228 others(17): Show c.228-1338_228-1229del	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	3/16			chr3	TogoVar
HIP1_chr7_75528298_75743941	75663940	ATATATAT others(103): Show ATATATATACACATATATGTGTATATATATATACACATATATGTGTATAT ATATACACATATATGTGTATATATATACACATATATGTGTATATATATAC ACATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00741.hp2 others(59): Show HG00099.hp1 HG00558.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01358.hp2 HG01433.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18946.hp2 NA18954.hp2 NA18971.hp2 NA18975.hp1 NA18980.hp1 NA19002.hp1 NA19005.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0001c0014 a0001c0018 a0001c0020 a0003c0006 a0005c0012 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0002t0008 a0001c0003t0016 a0001c0007t0004 a0001c0007t0005 a0001c0009t0005 a0001c0014t0026 a0001c0018t0001 a0001c0020t0013 a0003c0006t0004 a0005c0012t0001 a0008c0017t0008	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(59): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0040 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0158 a0001c0001t0001g0216 a0001c0001t0002g0029 a0001c0001t0002g0096 a0001c0001t0002g0122 a0001c0001t0002g0184 a0001c0001t0003g0014 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0068 a0001c0001t0003g0082 a0001c0001t0003g0091 a0001c0001t0003g0127 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0162 a0001c0001t0003g0232 a0001c0001t0004g0013 a0001c0001t0004g0016 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0005g0087 a0001c0001t0006g0025 a0001c0001t0006g0027 a0001c0001t0006g0030 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0011g0012 a0001c0001t0013g0018 a0001c0001t0013g0231 a0001c0001t0022g0251 a0001c0001t0024g0254 a0001c0001t0028g0092 a0001c0001t0032g0141 a0001c0001t0035g0041 a0001c0002t0008g0073 a0001c0003t0016g0024 a0001c0007t0004g0011 a0001c0007t0005g0123 a0001c0009t0005g0143 a0001c0014t0026g0015 a0001c0018t0001g0110 a0001c0020t0013g0145 a0003c0006t0004g0173 a0005c0012t0001g0112 a0008c0017t0008g0098	62	252	0.2460	-110	c.121 others(19): Show c.121-64803_121-64694del	HIP1	ENSG00000127946.17	transcript	ENST00000336926.11	protein_coding	1/30			chr7	TogoVar
HIVEP3_chr1_41501365_41923922	41531522	GGAGAGAT others(103): Show GGAGAGATGGAGGACAGGGGAGATGGAGGACAGGAGAGATGGAAGACAGG GGAGATGGAGGACAGGAGAGATGGAGGACAGGGGAGATGGAGGACAGGAG AGATGGAAGAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(78): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18961.hp2 NA18974.hp1 NA18974.hp2 NA18986.hp1 NA18986.hp2 NA19003.hp1 NA19003.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19076.hp1 NA19076.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp2	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0006 a0010 a0014 a0019 a0020 a0025 a0026 a0030 a0031	a0001c0001 a0001c0003 a0001c0011 others(14): Show a0001c0001 a0001c0003 a0001c0011 a0001c0032 a0002c0002 a0004c0029 a0004c0038 a0005c0005 a0006c0031 a0010c0016 a0014c0014 a0019c0039 a0020c0023 a0025c0025 a0026c0042 a0030c0037 a0031c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(58): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0060 a0001c0001t0064 a0001c0001t0068 a0001c0001t0072 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0082 a0001c0003t0002 a0001c0003t0028 a0001c0003t0031 a0001c0003t0034 a0001c0003t0036 a0001c0003t0038 a0001c0003t0044 a0001c0011t0004 a0001c0011t0021 a0001c0032t0074 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0011 a0002c0002t0013 a0002c0002t0022 a0002c0002t0023 a0002c0002t0026 a0002c0002t0029 a0002c0002t0032 a0002c0002t0033 a0002c0002t0035 a0002c0002t0037 a0002c0002t0045 a0002c0002t0056 a0002c0002t0062 a0002c0002t0063 a0002c0002t0065 a0002c0002t0067 a0004c0029t0061 a0004c0038t0059 a0005c0005t0001 a0005c0005t0017 a0005c0005t0020 a0005c0005t0066 a0005c0005t0070 a0006c0031t0010 a0010c0016t0003 a0014c0014t0040 a0014c0014t0078 a0019c0039t0039 a0020c0023t0010 a0025c0025t0069 a0026c0042t0085 a0030c0037t0071 a0031c0034t0011	a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 others(78): Show a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0065 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0002g0011 a0001c0001t0005g0035 a0001c0001t0005g0055 a0001c0001t0012g0010 a0001c0001t0017g0118 a0001c0001t0018g0120 a0001c0001t0018g0130 a0001c0001t0019g0096 a0001c0001t0060g0054 a0001c0001t0064g0111 a0001c0001t0068g0124 a0001c0001t0072g0006 a0001c0001t0073g0106 a0001c0001t0075g0098 a0001c0001t0076g0131 a0001c0001t0082g0072 a0001c0003t0002g0009 a0001c0003t0002g0031 a0001c0003t0002g0063 a0001c0003t0002g0110 a0001c0003t0002g0133 a0001c0003t0028g0029 a0001c0003t0031g0061 a0001c0003t0034g0107 a0001c0003t0036g0112 a0001c0003t0038g0097 a0001c0003t0044g0030 a0001c0011t0004g0033 a0001c0011t0004g0041 a0001c0011t0021g0040 a0001c0032t0074g0070 a0002c0002t0002g0114 a0002c0002t0002g0126 a0002c0002t0003g0048 a0002c0002t0008g0017 a0002c0002t0008g0127 a0002c0002t0011g0121 a0002c0002t0013g0099 a0002c0002t0013g0115 a0002c0002t0022g0085 a0002c0002t0023g0046 a0002c0002t0026g0100 a0002c0002t0029g0059 a0002c0002t0032g0103 a0002c0002t0033g0132 a0002c0002t0035g0123 a0002c0002t0037g0094 a0002c0002t0045g0015 a0002c0002t0056g0134 a0002c0002t0062g0014 a0002c0002t0063g0022 a0002c0002t0065g0089 a0002c0002t0067g0049 a0004c0029t0061g0071 a0004c0038t0059g0080 a0005c0005t0001g0007 a0005c0005t0017g0012 a0005c0005t0020g0001 a0005c0005t0066g0016 a0005c0005t0070g0066 a0006c0031t0010g0073 a0010c0016t0003g0083 a0010c0016t0003g0092 a0014c0014t0040g0075 a0014c0014t0078g0053 a0019c0039t0039g0008 a0020c0023t0010g0081 a0025c0025t0069g0025 a0026c0042t0085g0047 a0030c0037t0071g0117 a0031c0034t0011g0101	81	134	0.6045	-110	c.520 others(19): Show c.5208-6722_5208-6613del	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HOMEZ_chr14_23267422_23291132	23274811	CAGGAGAA others(103): Show CAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATT GCGCCATTGCACTACAGCCTGGGCGACAGAGCAAGACTCCACCTCAAAAA AAAAAAAAAGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0167 a0001c0002t0021g0167	1	392	0.0026	-110	c.65 others(9): Show c.654_*763del	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	2/2	654		chr14	TogoVar
HSD17B11_chr4_87331515_87396188	87378854	ATAAATAT others(103): Show ATAAATATATATAAATATATATATATAAATATATATATATAAATATATAT AAATATATATATATAAATATATATAAATATATATATATATATATTTATAT ATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0018 a0001c0003t0013g0018	1	383	0.0026	-110	c.318 others(17): Show c.318+3291_318+3400del	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B11_chr4_87331515_87396188	87378856	AAATATAT others(103): Show AAATATATATAAATATATATATATAAATATATATATATAAATATATATAA ATATATATATATAAATATATATAAATATATATATATATATATTTATATAT ATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02886.hp2 HG02572.hp2 HG02630.hp1 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0132 a0001c0003t0003g0130 a0001c0003t0003g0131 a0001c0003t0003g0132	3	377	0.0080	-110	c.318 others(17): Show c.318+3289_318+3398del	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HSD17B14_chr19_48808018_48841491	48834815	GGGGCTGG others(103): Show GGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCT GGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01192.hp1 NA18975.hp1 others(1): Show HG00408.hp2 HG01192.hp1 NA18975.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0133 a0002c0002t0001g0298 a0002c0002t0001g0299 others(1): Show a0001c0001t0001g0133 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300	4	384	0.0104	-110	c.128 others(15): Show c.128-567_128-458del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834964	GGCTGGGG others(103): Show GGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGG ACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00639.hp1 others(27): Show HG00099.hp1 HG00438.hp2 HG00639.hp1 HG00733.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01243.hp2 HG01361.hp2 HG01943.hp1 HG02040.hp1 HG02258.hp1 HG02622.hp2 HG02717.hp1 HG02735.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG06807.hp1 NA18964.hp1 NA18999.hp2 NA19007.hp2 NA19081.hp2 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0310 others(25): Show a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0310 a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0325 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0345 a0002c0002t0001g0366 a0002c0002t0001g0367 a0002c0002t0001g0370	30	389	0.0771	-110	c.128 others(15): Show c.128-716_128-607del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IQCA1_chr2_236319151_236512476	236417011	TGGCCTCC others(103): Show TGGCCTCCCAAAGTGCTGGGATTGCAGGTATGTATTTTTAGTAGAGATGG GGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGAT CTGCCTGCCTC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0064 a0002c0002t0009g0064	1	206	0.0049	-110	c.113 others(19): Show c.1134+2028_1134+2137del	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	8/18			chr2	TogoVar
IQCE_chr7_2553979_2619728	2591875	ACCTCCCA others(103): Show ACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGGCCTG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGG GCCTGCCTCGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp2 others(103): Show HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01192.hp1 HG01255.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03492.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA19003.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0007 a0009 a0011 a0019 a0023	a0001c0001 a0001c0003 a0001c0025 others(11): Show a0001c0001 a0001c0003 a0001c0025 a0002c0002 a0002c0004 a0002c0038 a0003c0020 a0003c0024 a0006c0035 a0007c0006 a0009c0021 a0011c0018 a0019c0030 a0023c0032	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(29): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0046 a0001c0001t0049 a0001c0001t0053 a0001c0001t0070 a0001c0003t0020 a0001c0003t0030 a0001c0025t0001 a0002c0002t0003 a0002c0004t0002 a0002c0004t0003 a0002c0004t0012 a0002c0004t0013 a0002c0004t0040 a0002c0004t0045 a0002c0004t0071 a0002c0004t0076 a0002c0004t0103 a0002c0038t0113 a0003c0020t0082 a0003c0020t0083 a0003c0024t0084 a0006c0035t0034 a0007c0006t0024 a0007c0006t0047 a0007c0006t0086 a0009c0021t0041 a0011c0018t0035 a0019c0030t0101 a0023c0032t0012	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(102): Show a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0270 a0001c0001t0001g0280 a0001c0001t0001g0296 a0001c0001t0001g0362 a0001c0001t0001g0390 a0001c0001t0001g0411 a0001c0001t0001g0412 a0001c0001t0001g0413 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0029 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0062 a0001c0001t0004g0071 a0001c0001t0004g0174 a0001c0001t0004g0181 a0001c0001t0004g0184 a0001c0001t0016g0205 a0001c0001t0016g0265 a0001c0001t0046g0389 a0001c0001t0049g0243 a0001c0001t0053g0059 a0001c0001t0070g0031 a0001c0003t0020g0020 a0001c0003t0020g0117 a0001c0003t0020g0118 a0001c0003t0030g0154 a0001c0025t0001g0385 a0002c0002t0003g0089 a0002c0004t0002g0214 a0002c0004t0002g0222 a0002c0004t0002g0224 a0002c0004t0002g0240 a0002c0004t0002g0248 a0002c0004t0002g0258 a0002c0004t0002g0262 a0002c0004t0002g0269 a0002c0004t0002g0275 a0002c0004t0002g0303 a0002c0004t0002g0332 a0002c0004t0002g0335 a0002c0004t0002g0365 a0002c0004t0002g0376 a0002c0004t0002g0407 a0002c0004t0003g0001 a0002c0004t0003g0006 a0002c0004t0003g0007 a0002c0004t0003g0008 a0002c0004t0003g0010 a0002c0004t0003g0011 a0002c0004t0003g0108 a0002c0004t0003g0147 a0002c0004t0003g0161 a0002c0004t0003g0163 a0002c0004t0012g0274 a0002c0004t0012g0283 a0002c0004t0012g0334 a0002c0004t0012g0379 a0002c0004t0013g0257 a0002c0004t0040g0260 a0002c0004t0040g0301 a0002c0004t0045g0305 a0002c0004t0071g0162 a0002c0004t0076g0103 a0002c0004t0103g0398 a0002c0038t0113g0024 a0003c0020t0082g0158 a0003c0020t0083g0159 a0003c0024t0084g0109 a0006c0035t0034g0173 a0007c0006t0024g0110 a0007c0006t0024g0126 a0007c0006t0024g0150 a0007c0006t0047g0111 a0007c0006t0086g0124 a0009c0021t0041g0371 a0009c0021t0041g0375 a0011c0018t0035g0113 a0011c0018t0035g0114 a0019c0030t0101g0276 a0023c0032t0012g0312	106	247	0.4292	-110	c.124 others(18): Show c.1245-1053_1245-944del	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITGA4_chr2_181452386_181543940	181542764	AATATGAT others(103): Show AATATGATAAATCCTGCATAATATTATCTCTTAGAAAACGTCTTCCTATC GATACAGATTTTTATTATTTTCTGTATGTCTGTCTTTATGTGTAAGGTAA CCATTGCTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0210 a0001c0002t0003g0210	1	366	0.0027	-110	c.72 others(11): Show c.7238_*7347del	ITGA4	ENSG00000115232.14	transcript	ENST00000397033.7	protein_coding		3825		chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251399	ATATATAT others(103): Show ATATATATATGTGTGTATATATATGTGTATATATATGTGTGTATATATAT GTGTATATATGTGTATATATATGTGTATATATATGTGTATATATATGTGT ATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0011 a0015c0011	a0015c0011t0005 a0015c0011t0005	a0015c0011t0005g0223 a0015c0011t0005g0223	1	199	0.0050	-110	c.312 others(17): Show c.3120+836_3120+945del	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
KALRN_chr3_124028369_124731325	124628201	CCCCCCTC others(103): Show CCCCCCTCCTTCCTTCCCTCCCTCCCTCCTTCCTTCCCTCCCTCCCTTCT TCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCTTC ATTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0005 a0005	a0005c0048 a0005c0048	a0005c0048t0003 a0005c0048t0003	a0005c0048t0003g0007 a0005c0048t0003g0007	1	114	0.0088	-110	c.518 others(19): Show c.5183-4213_5183-4104del	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAZN_chr1_14593685_15123043	15038787	CTATTACC others(103): Show CTATTACCAACAGCAGACATTTATTGTGCACCTACTATATACAGACATGA ATGTGCTATTACCAACAGCAGACGTTTATTGTGCACCTACTGTATACAGA CATGAATGTGA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00642.hp2 others(27): Show HG00323.hp1 HG00323.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp2 HG01255.hp1 HG01516.hp2 HG01891.hp2 HG02257.hp2 HG02486.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp1 HG03927.hp2 NA18612.hp2 NA18906.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0012 a0001c0013 a0002c0002 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0003t0002 a0001c0008t0009 a0001c0012t0006 a0001c0013t0021 a0002c0002t0001 a0008c0014t0005	a0001c0001t0001g0068 a0001c0001t0001g0086 a0001c0001t0002g0007 others(27): Show a0001c0001t0001g0068 a0001c0001t0001g0086 a0001c0001t0002g0007 a0001c0001t0002g0060 a0001c0001t0002g0090 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0130 a0001c0001t0003g0005 a0001c0001t0003g0088 a0001c0001t0004g0044 a0001c0001t0004g0063 a0001c0001t0005g0014 a0001c0001t0005g0070 a0001c0001t0007g0087 a0001c0001t0009g0033 a0001c0001t0010g0131 a0001c0001t0019g0029 a0001c0001t0020g0045 a0001c0001t0023g0127 a0001c0003t0002g0002 a0001c0008t0009g0120 a0001c0012t0006g0069 a0001c0013t0021g0051 a0002c0002t0001g0028 a0002c0002t0001g0057 a0002c0002t0001g0062 a0002c0002t0001g0081 a0002c0002t0001g0133 a0008c0014t0005g0097	30	146	0.2055	-110	c.555 others(17): Show c.555+3911_555+4020del	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15038927	CCTACTGT others(103): Show CCTACTGTATACAGACACGAATGTGCTATTACCAACAGCAGACGTTTATT GTGCACCTACTGTATACAGACATGAATGTGATATTACCAGTAGCAGATGT TTATTGTGCAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(16): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG01192.hp1 HG01358.hp2 HG02040.hp2 HG02523.hp1 HG03017.hp2 HG04199.hp1 NA18942.hp1 NA18963.hp1 NA18970.hp2 NA18971.hp2 NA18986.hp1 NA18986.hp2 NA19056.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0006 others(3): Show a0001c0001 a0002c0002 a0002c0006 a0003c0005 a0003c0017 a0005c0015	a0001c0001t0002 a0001c0001t0015 a0001c0001t0017 others(9): Show a0001c0001t0002 a0001c0001t0015 a0001c0001t0017 a0002c0002t0001 a0002c0002t0012 a0002c0002t0029 a0002c0002t0030 a0002c0006t0006 a0003c0005t0002 a0003c0005t0011 a0003c0017t0002 a0005c0015t0013	a0001c0001t0002g0026 a0001c0001t0015g0080 a0001c0001t0017g0023 others(16): Show a0001c0001t0002g0026 a0001c0001t0015g0080 a0001c0001t0017g0023 a0002c0002t0001g0020 a0002c0002t0001g0039 a0002c0002t0001g0053 a0002c0002t0001g0078 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0012g0099 a0002c0002t0029g0065 a0002c0002t0030g0076 a0002c0006t0006g0036 a0003c0005t0002g0074 a0003c0005t0002g0091 a0003c0005t0011g0119 a0003c0017t0002g0019 a0005c0015t0013g0121	19	146	0.1301	-110	c.555 others(17): Show c.555+4152_555+4261del	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNIP4_chr4_20723606_21953772	21757163	GAAAGAAG others(103): Show GAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAG AAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	70	0.0143	-110	c.61+ others(19): Show c.61+191298_61+191407del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KHDRBS2_chr6_61674961_62291225	61677985	CCGATCAT others(103): Show CCGATCATTAAAGTTAACATATATTATGGATATTTATGTAGTAAAAACAG GACTAGACACAGAAGATTAAAACTTGGGGTTTAAAACCCTGCTTTAAACA TCAGACCAAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 NA20805.hp2 HG02723.hp2 NA20805.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0186 a0002c0006t0004g0187 a0002c0006t0004g0186 a0002c0006t0004g0187	2	242	0.0083	-110	c.28 others(11): Show c.2868_*2977del	KHDRBS2	ENSG00000112232.10	transcript	ENST00000281156.5	protein_coding		1975		chr6	TogoVar
KIF4A_chrX_70285104_70425886	70373549	TATATATA others(103): Show TATATATACGTATATATATACATATATACGTGTATATATATACGTATATA TATACATATATACGTGTATATATATACGTATATATATACATATATACGTG TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	256	0.0039	-110	c.167 others(17): Show c.1675-601_1675-492del	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30			chrX	TogoVar
LMF1_chr16_848634_975984	953425	GTTCACAC others(103): Show GTTCACACAGACACGGACCCCACACCAGCCTCCTACACGTCCACACAGAC ACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAG CCTCCTACATA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18944.hp1 HG01361.hp1 NA18944.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0014c0062 a0001c0001 a0014c0062	a0001c0001t0019 a0014c0062t0008 a0001c0001t0019 a0014c0062t0008	a0001c0001t0019g0255 a0014c0062t0008g0214 a0001c0001t0019g0255 a0014c0062t0008g0214	2	279	0.0072	-110	c.503 others(15): Show c.503+822_503+931del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953952	CACCCCAA others(103): Show CACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCT CCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCA CACAGACACAG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	255	0.0039	-110	c.503 others(15): Show c.503+295_503+404del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	961004	CAGACTCA others(103): Show CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp2 HG02109.hp1 others(12): Show HG00738.hp2 HG01123.hp2 HG02109.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp2 HG03209.hp1 HG03225.hp2 NA18522.hp2 NA18950.hp2 NA19009.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0019	a0001c0002 a0001c0006 a0001c0012 others(5): Show a0001c0002 a0001c0006 a0001c0012 a0001c0013 a0001c0020 a0002c0017 a0004c0019 a0019c0042	a0001c0002t0001 a0001c0002t0006 a0001c0006t0001 others(7): Show a0001c0002t0001 a0001c0002t0006 a0001c0006t0001 a0001c0012t0001 a0001c0012t0018 a0001c0013t0001 a0001c0020t0001 a0002c0017t0001 a0004c0019t0001 a0019c0042t0001	a0001c0002t0001g0086 a0001c0002t0006g0048 a0001c0006t0001g0081 others(12): Show a0001c0002t0001g0086 a0001c0002t0006g0048 a0001c0006t0001g0081 a0001c0006t0001g0092 a0001c0012t0001g0084 a0001c0012t0001g0098 a0001c0012t0001g0099 a0001c0012t0001g0101 a0001c0012t0018g0035 a0001c0013t0001g0044 a0001c0020t0001g0097 a0001c0020t0001g0100 a0002c0017t0001g0080 a0004c0019t0001g0082 a0019c0042t0001g0083	15	292	0.0514	-110	c.194 others(17): Show c.194-6448_194-6339del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMLN_chr3_197955217_198048720	198012930	GTCTGACT others(103): Show GTCTGACTTCTCTGTACCCTTCAGAGCCCCCTAACTAGTCTGACTTCTCT GTACCCTTCAGAGTCCCCTAACTAGTCTGACTTCTCTGTACCCTTCAGAG TCCCCTAACTA	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0037 a0003c0004t0037	a0003c0004t0037g0080 a0003c0004t0037g0080	1	256	0.0039	-110	c.132 others(19): Show c.1320-6322_1320-6213del	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16			chr3	TogoVar
LOC128462377_chr16_89312046_89423292	89342076	CGCCCACA others(103): Show CGCCCACAGCTCTGCTTCCCACCCTCCACCTCACACCACCATGGGCACTT GGTCCCTTCTCTCAGGGCCCTTCTAGATCTTGGCGTCTGGGCCTCAAAGC ACAACACAGGT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	366	0.0027	-110	c.10- others(17): Show c.10-25111_10-25002del	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LPP_chr3_188149157_188895671	188784815	CATATATA others(103): Show CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT CCATCATATATATATATTCCATCATATATATATATTCCATCATATATATA TATTCCATCAT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01175.hp2 NA20752.hp2 HG00673.hp1 HG01175.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0001t0054 a0001c0005t0062 a0001c0001t0006 a0001c0001t0054 a0001c0005t0062	a0001c0001t0006g0024 a0001c0001t0054g0012 a0001c0005t0062g0022 a0001c0001t0006g0024 a0001c0001t0054g0012 a0001c0005t0062g0022	3	65	0.0462	-110	c.141 others(21): Show c.1410+24544_1410+24653del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH2_chrX_115105616_115239096	115125468	TATATATA others(103): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0192 a0001c0001t0002g0192	1	235	0.0043	-110	c.179 others(19): Show c.1791+1265_1791+1374del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar
LRPAP1_chr4_3498612_3537422	3509211	ATGGACAC others(103): Show ATGGACACCGGAGACTGTTGAGACGCCGACTGGAGTCACACACGGCAGTC AACGCGTGGACACCGGAGACTGTTGAGACGCCGACTGGAGTCACACACGG CAGTCAACGCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0106 a0001c0007t0106	a0001c0007t0106g0292 a0001c0007t0106g0292	1	363	0.0028	-110	c.36 others(11): Show c.3653_*3762del	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3653		chr4	TogoVar
LRPAP1_chr4_3498612_3537422	3509558	TTGAGACG others(103): Show TTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGTTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACA CCGGAGACTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp1 NA19083.hp1 HG01433.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0120 a0001c0001t0047 a0001c0001t0120	a0001c0001t0047g0184 a0001c0001t0120g0187 a0001c0001t0047g0184 a0001c0001t0120g0187	2	126	0.0159	-110	c.33 others(11): Show c.3306_*3415del	LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8	3306		chr4	TogoVar
LRRC14B_chr5_186495_201334	200867	CCAGCCAG others(103): Show CCAGCCAGCGTCTACACAGCAGGCTGCCCCCATCACAGCTAGCCAGCGTC TACACAGCAGGCTGCCCCCATCACAGCCAGCCAGCGTCTACACAGCAGGC TGCCCCCATCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02132.hp2 HG02897.hp1 others(3): Show HG02015.hp1 HG02132.hp2 HG02897.hp1 NA18965.hp2 NA18983.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	468	0.0128	-110	c.55 others(11): Show c.5515_*5624del	LRRC14B	ENSG00000185028.4	transcript	ENST00000328278.4	protein_coding		4534		chr5	TogoVar
LRRC27_chr10_132327193_132386508	132358705	CAGTGTGG others(103): Show CAGTGTGGGGAGGAGCCAAGGTGGTGGAGCAGCGTGGGGAGGAGCCGAGG TGATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGC CGAGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	258	0.0039	-110	c.117 others(19): Show c.1171-2749_1171-2640del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358757	ATGGAGCA others(103): Show ATGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGTGTGGGGAGGAGCCG AGGTGGTGGAGCGTGGGAAGGAGCCGAGCTGGTGGAGCAGCGTAGGGAGG AGCCGAGGTGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp2 HG02965.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0047 a0001c0001t0002 a0001c0001t0047	a0001c0001t0002g0277 a0001c0001t0047g0278 a0001c0001t0002g0277 a0001c0001t0047g0278	2	241	0.0083	-110	c.117 others(19): Show c.1171-2665_1171-2556del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358873	CAGTGTGG others(103): Show CAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGG TGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGC CGAGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0248 a0001c0002t0003g0248	1	270	0.0037	-110	c.117 others(19): Show c.1171-2581_1171-2472del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358882	GAGGAGCC others(103): Show GAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGC AGTGTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGT GGAGCGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG01192.hp1 HG00099.hp2 HG00639.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0048 a0001c0001t0001 a0001c0001t0002 a0001c0001t0048	a0001c0001t0001g0150 a0001c0001t0002g0193 a0001c0001t0048g0192 a0001c0001t0001g0150 a0001c0001t0002g0193 a0001c0001t0048g0192	3	277	0.0108	-110	c.117 others(19): Show c.1171-2552_1171-2443del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAD1L1_chr7_1810795_2237945	2036043	CGGGACAG others(103): Show CGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGCACTGA CAAGTTGGGACAGAGCTGGGGTCCAGGCTCCCAGGCATGAGCGCGGGAGC ACTGACAAGTG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02165.hp2 NA18985.hp1 HG01175.hp2 HG02165.hp2 NA18985.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0002c0012 a0001c0001 a0002c0005 a0002c0012	a0001c0001t0001 a0002c0005t0001 a0002c0012t0001 a0001c0001t0001 a0002c0005t0001 a0002c0012t0001	a0001c0001t0001g0174 a0002c0005t0001g0120 a0002c0012t0001g0044 a0001c0001t0001g0174 a0002c0005t0001g0120 a0002c0012t0001g0044	3	262	0.0115	-110	c.121 others(21): Show c.1219-21511_1219-21402del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	12/18			chr7	TogoVar
MAGI2_chr7_78012055_79458667	79135958	AGAAAGAA others(103): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA AGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAAG AAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0003 a0001c0002t0005g0003	1	40	0.0250	-110	c.302 others(21): Show c.302-128862_302-128753del	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAP3K15_chrX_19355059_19520508	19452288	GAGAAGAG others(103): Show GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAAGAGAAGAGAAGAGAAGAGAAGAGAGAAAAGAAAA GAGAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	160	0.0063	-110	c.995 others(17): Show c.995+4515_995+4624del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K21_chr1_233322724_233390148	233372977	TTTTGTCT others(103): Show TTTTGTCTAATGAGGCTTGCATGGAATCTCATTTTTTTTTCCTCTTTTGA TAATGAAAACCTTGGCACCAGCAGAGATTTCTTTTGCAAGTTCTCGGACA CCAGGATCCCC	T T	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	370	0.0027	-110	c.167 others(17): Show c.1675+818_1675+927del	MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	6/9			chr1	TogoVar
MAPK8IP2_chr22_50595793_50618978	50608320	GGGACAGC others(103): Show GGGACAGCGGGCAGGGGCGCAGACCAGACAGCGGGGCCAGCTCTGGGGTG GAAAGGTGGGACAGTGGGCAGGGGCGCAGACCAGACAGTGGGGCCAGCTC TGGGGTCACCA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 HG02735.hp1 others(2): Show HG00609.hp1 HG00673.hp2 HG02735.hp1 NA18940.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0041 a0001c0001t0003g0108 a0001c0001t0003g0112 others(1): Show a0001c0001t0003g0041 a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0113	5	436	0.0115	-110	c.230 others(19): Show c.2303+1338_2303+1447del	MAPK8IP2	ENSG00000008735.14	transcript	ENST00000329492.6	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
MBD3L4_chr19_7032749_7045179	7035804	ATATATAT others(103): Show ATATATATAATATAATTATATAACATATAAATTATATTATATATATAATA TAATTATATAACATATAAATTATATTATATATAATATAATTCTATAACAT ATAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02129.hp1 HG02486.hp2 others(5): Show HG00642.hp1 HG02129.hp1 HG02486.hp2 HG02602.hp2 HG03704.hp1 HG03831.hp2 NA18747.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	246	0.0325	-110	c.19 others(11): Show c.1947_*2056del	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		1944		chr19	TogoVar
MBD3L5_chr19_7025578_7038011	7035804	ATATATAT others(103): Show ATATATATAATATAATTATATAACATATAAATTATATTATATATATAATA TAATTATATAACATATAAATTATATTATATATAATATAATTCTATAACAT ATAAATTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02258.hp2 HG02300.hp2 others(4): Show HG00642.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp2 HG02895.hp2 HG03486.hp1 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0014 a0002c0002t0001g0002 a0001c0001t0002g0014 a0002c0002t0001g0002	7	234	0.0299	-110	c.29 others(11): Show c.2911_*3020del	MBD3L5	ENSG00000237247.6	transcript	ENST00000329753.5	protein_coding		2794		chr19	TogoVar
MECOM_chr3_169078507_169668712	169472547	GGAAAAGA others(103): Show GGAAAAGAAAAGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGAAAAGAAAAGAAAAGAAAAGGAAAGGAAA GGAAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01516.hp1 HG03139.hp1 others(1): Show HG01255.hp1 HG01516.hp1 HG03139.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0001t0010 a0001c0004t0003 a0001c0001t0009 a0001c0001t0010 a0001c0004t0003	a0001c0001t0009g0117 a0001c0001t0009g0120 a0001c0001t0010g0146 others(1): Show a0001c0001t0009g0117 a0001c0001t0009g0120 a0001c0001t0010g0146 a0001c0004t0003g0071	4	158	0.0253	-110	c.38- others(17): Show c.38-91133_38-91024del	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151368614	TATTTTAT others(103): Show TATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATTTCATGTCATTTCATTTTATTTCATTTCATTTCATTTCATTT CATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0042 a0001c0023t0042	a0001c0023t0042g0161 a0001c0023t0042g0161	1	268	0.0037	-110	c.355 others(17): Show c.3550+368_3550+477del	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
METTL25_chr12_82353529_82484239	82365704	AGCTAAAA others(103): Show AGCTAAAATATTTTATGAAACAGAAATAGATCAAAACAACAGAAGCAACT TAAGCAGCTTACTTAGCTTGCTGAAAATTTTAAGAATATCTGGCCTCGGC CGGGCGCGGTG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01361.hp1 HG01516.hp1 others(2): Show HG01256.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG02630.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0004 a0002c0006t0002 a0002c0006t0004	a0002c0006t0002g0100 a0002c0006t0002g0101 a0002c0006t0002g0102 others(2): Show a0002c0006t0002g0100 a0002c0006t0002g0101 a0002c0006t0002g0102 a0002c0006t0002g0103 a0002c0006t0004g0106	5	128	0.0391	-110	c.259 others(17): Show c.259+6884_259+6993del	METTL25	ENSG00000127720.8	transcript	ENST00000248306.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
MLPH_chr2_237482251_237560322	237544531	CAGTTGTT others(103): Show CAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGTTTATT GGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCAGTGGTGA TTGGGCACTGT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0229 a0004c0014t0001g0229	1	284	0.0035	-110	c.153 others(19): Show c.1539+1876_1540-1962del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MTUS2_chr13_28815339_29510947	29375534	TATACGTG others(103): Show TATACGTGTATATATATATATATACGTATATATATATATACATATATATA TATACGTATATATATATATATATACGTATATATATATATATATATATATA TATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03195.hp1 HG03540.hp2 others(1): Show HG02145.hp2 HG03195.hp1 HG03540.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020	a0001c0001t0008g0020 a0001c0001t0009g0088 a0001c0001t0010g0010 others(1): Show a0001c0001t0008g0020 a0001c0001t0009g0088 a0001c0001t0010g0010 a0001c0001t0020g0016	4	90	0.0444	-110	c.311 others(21): Show c.3117+16063_3117+16172del	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar

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