Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GP1BB_chr22_19718539_19729771	19725181	AGTGAGGA others(112): Show AGTGAGGACGCTGTGGACAGTGAGGGCGCTGTGGGGGCGGTGAGGACGCT GTAGGGGCGGTGAGGACGCTGTGGGGGCGGTGAAGGCGCTGTGGGGATGG TGAGGACGCTATCCGGGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0001 a0003c0005t0002g0001	1	410	0.0024	-119	c.71 others(9): Show c.718_*836del		GP1BB	ENSG00000203618.6	transcript	ENST00000366425.4	protein_coding					411		chr22	TogoVar
GRIN1_chr9_137134154_137173756	137144765	GGTCCAGA others(112): Show GGTCCAGAAAGTGTCCCCAGGGTGGTAGGGACAGGGGTGGGAGACACGAG GGGGTCCCAGGGTCTAGAAAGTGTCCCCAGGGTGGCAGGGATGGGATGGG AGACACGAGGGGGTCCCAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp2 HG00673.hp1 others(7): Show HG00099.hp2 HG00558.hp2 HG00673.hp1 HG01515.hp1 HG02738.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG04115.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0053 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0003g0015 a0001c0002t0001g0144 a0001c0002t0001g0145	10	298	0.0336	-119	c.394 others(15): Show c.394-957_394-839del		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137144769	CAGAAAGT others(112): Show CAGAAAGTGTCCCCAGGGTGGTAGGGACAGGGGTGGGAGACACGAGGGGG TCCCAGGGTCTAGAAAGTGTCCCCAGGGTGGCAGGGATGGGATGGGAGAC ACGAGGGGGTCCCAGAGTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(151): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18980.hp2 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19077.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0002c0010 a0003c0013	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0009t0001 a0001c0011t0001 a0001c0012t0001 a0002c0010t0001 a0003c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(139): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0004g0119 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0148 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0003t0001g0050 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0004t0001g0040 a0001c0004t0001g0069 a0001c0004t0001g0085 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0005t0001g0078 a0001c0005t0002g0022 a0001c0006t0001g0127 a0001c0009t0001g0225 a0001c0011t0001g0174 a0001c0012t0001g0049 a0002c0010t0001g0169 a0003c0013t0001g0276	154	298	0.5168	-119	c.394 others(15): Show c.394-939_394-821del		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
GRIN1_chr9_137134154_137173756	137145479	CGGGGTGG others(112): Show CGGGGTGGGGACAGGGGTGGGAGACACGAGGGGGTCCCAGGGTCTAGAAA GTGTCCCCAGGGTGGTAGGGACGGGGTGGGAGACACGAGGGGGTCCCAGG GTCTAGAACGTGTCCCCATG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18522.hp1 NA20300.hp1 others(1): Show HG02145.hp2 NA18522.hp1 NA20300.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0084 a0001c0001t0001g0123 a0001c0001t0001g0013 a0001c0001t0001g0084 a0001c0001t0001g0123	4	298	0.0134	-119	c.394 others(15): Show c.394-224_394-106del		GRIN1	ENSG00000176884.17	transcript	ENST00000371561.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
GRTP1_chr13_113319163_113369130	113330748	GAGCCCAG others(112): Show GAGCCCAGGTGTGTGCGTGGAAACTCAGGTGCGTGCATGGAGCCCAGGTG CGTGGATGGAAACCCAGGTGTGTGCATGGGAGCCCAGGTGTGTGGAAGGA AACCCAGGTGTGTGCATGGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	288	0.0035	-119	c.563 others(17): Show c.563-4776_563-4658del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	5/7						chr13	TogoVar
HBQ1_chr16_175459_186179	186034	AGGAATAC others(112): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	384	0.0026	-119	c.49 others(11): Show c.4927_*5045del		HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding					4856		chr16	TogoVar
HDAC9_chr7_18490749_19007416	18914675	ATAGTCAT others(112): Show ATAGTCATTTCAATTTCCCACTTAACTTTGATGTATTGAGTTGGAACTTG ATGTAAAAGATGACTAGTAGTCACTGTAAGTGTATTAAAGGTCATTACGC TGGGAGAGAAACATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02145.hp1 HG02683.hp1 others(2): Show HG00639.hp2 HG02145.hp1 HG02683.hp1 HG03942.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0022 a0001c0002t0011 others(2): Show a0001c0001t0004 a0001c0001t0022 a0001c0002t0011 a0001c0002t0041 a0001c0003t0005	a0001c0001t0004g0117 a0001c0001t0022g0079 a0001c0002t0011g0026 others(2): Show a0001c0001t0004g0117 a0001c0001t0022g0079 a0001c0002t0011g0026 a0001c0002t0041g0056 a0001c0003t0005g0006	5	156	0.0321	-119	c.280 others(21): Show c.2804-21132_2804-21014del		HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	22/25					INFO_REALIGN_3_PRIME	chr7	TogoVar
HELZ2_chr20_63553086_63579239	63559600	GAGTCAGG others(112): Show GAGTCAGGGTCAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGG TCAGGTGGGAGGAGTCAGGGTCAGGTCGGAGTCAGGGTCAGGTGGGAGGA GTCAGGGTCAGGTGGGAGTC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02647.hp2 others(1): Show HG01891.hp2 HG02109.hp1 HG02647.hp2 NA18522.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0003 a0009c0014t0004 a0009c0014t0001 a0009c0014t0003 a0009c0014t0004	a0009c0014t0001g0242 a0009c0014t0003g0241 a0009c0014t0004g0083 others(1): Show a0009c0014t0001g0242 a0009c0014t0003g0241 a0009c0014t0004g0083 a0009c0014t0004g0240	4	390	0.0103	-119	c.782 others(17): Show c.7825+209_7826-231del		HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19						chr20	TogoVar
HNRNPM_chr19_8439975_8494114	8493497	GCCATGCA others(112): Show GCCATGCAGGCAGCCCTGGTTCATCCACAGCTGACCCAGAGCAGGCCTCT GCCCGCCTTCCCCGCATGGCCAGCTCAGATCCCTGGGAAAGGCTGGGCTC TCCCCACCTGCAGAGGAGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02976.hp1 HG03195.hp2 HG02723.hp1 HG02976.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031	3	360	0.0083	-119	c.46 others(11): Show c.4644_*4762del		HNRNPM	ENSG00000099783.13	transcript	ENST00000325495.9	protein_coding					4384		chr19	TogoVar
IL17RA_chr22_17080000_17120693	17103994	TGGTGTGG others(112): Show TGGTGTGGCTGGGAGTGGGGAGCGTGCACAGGTGGAGAGTGTGGTGTGGC TGGGAGTGGGGAGCGTGCACAGGTGGGGAGAGTGGTGTGGCTGGGAGTGG GGAGCGTGCACAGGTGGAGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00738.hp2 others(14): Show HG00099.hp1 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01168.hp2 HG01169.hp2 HG01346.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01981.hp1 HG02300.hp2 HG03239.hp2 HG03669.hp2 HG03927.hp1 HG03942.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0005 a0001c0001 a0002c0003 a0002c0005	a0001c0001t0009 a0001c0001t0027 a0001c0001t0101 others(4): Show a0001c0001t0009 a0001c0001t0027 a0001c0001t0101 a0001c0001t0102 a0001c0001t0121 a0002c0003t0042 a0002c0005t0064	a0001c0001t0009g0201 a0001c0001t0009g0203 a0001c0001t0009g0205 others(14): Show a0001c0001t0009g0201 a0001c0001t0009g0203 a0001c0001t0009g0205 a0001c0001t0009g0315 a0001c0001t0009g0328 a0001c0001t0009g0329 a0001c0001t0009g0354 a0001c0001t0009g0357 a0001c0001t0009g0376 a0001c0001t0027g0027 a0001c0001t0027g0106 a0001c0001t0101g0346 a0001c0001t0102g0327 a0001c0001t0121g0026 a0002c0003t0042g0028 a0002c0003t0042g0029 a0002c0005t0064g0348	17	416	0.0409	-119	c.846 others(15): Show c.846+456_846+574del		IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
KCNH1_chr1_210673314_211139148	211111841	GCTGTACT others(112): Show GCTGTACTGTCTGGGAAGTGAGGAGCACCTCTGCTTGGCTGCCCACCATC TGGGAAGTGAGGAGTGCCTCTGCCTGGCTACTGCACCGTCTAGGAAGTGA GGTGCCCCTCTGCCTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(113): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00438.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18946.hp1 NA18949.hp1 NA18950.hp2 NA18959.hp2 NA18961.hp1 NA18969.hp1 NA18995.hp2 NA18998.hp1 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0002c0004 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0002t0001 a0001c0002t0004 a0001c0002t0007 a0001c0002t0014 a0001c0002t0015 a0001c0002t0029 a0001c0002t0038 a0001c0003t0010 a0001c0005t0005 a0001c0009t0001 a0001c0010t0001 a0002c0004t0003 a0003c0008t0007	a0001c0001t0001g0152 a0001c0001t0002g0009 a0001c0001t0002g0010 others(113): Show a0001c0001t0001g0152 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0055 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0115 a0001c0001t0003g0154 a0001c0001t0004g0020 a0001c0001t0004g0032 a0001c0001t0004g0034 a0001c0001t0004g0046 a0001c0001t0004g0053 a0001c0001t0004g0107 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0117 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0013 a0001c0001t0005g0035 a0001c0001t0005g0043 a0001c0001t0005g0044 a0001c0001t0005g0155 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0106 a0001c0001t0006g0116 a0001c0001t0008g0105 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0063 a0001c0001t0012g0136 a0001c0001t0013g0004 a0001c0001t0013g0039 a0001c0001t0014g0062 a0001c0001t0016g0065 a0001c0001t0017g0151 a0001c0001t0018g0087 a0001c0001t0019g0109 a0001c0001t0021g0045 a0001c0001t0023g0122 a0001c0001t0024g0132 a0001c0001t0026g0064 a0001c0001t0032g0011 a0001c0001t0033g0161 a0001c0001t0034g0159 a0001c0001t0035g0162 a0001c0001t0036g0164 a0001c0001t0037g0160 a0001c0002t0001g0012 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0036 a0001c0002t0001g0086 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0158 a0001c0002t0004g0041 a0001c0002t0007g0027 a0001c0002t0014g0149 a0001c0002t0015g0135 a0001c0002t0015g0150 a0001c0002t0029g0121 a0001c0002t0038g0163 a0001c0003t0010g0042 a0001c0005t0005g0015 a0001c0009t0001g0114 a0001c0010t0001g0017 a0002c0004t0003g0111 a0003c0008t0007g0024	116	164	0.7073	-119	c.80- others(15): Show c.80-4583_80-4465del		KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	1/10						chr1	TogoVar
KCNIP4_chr4_20723606_21953772	21291305	TGTGGAGT others(112): Show TGTGGAGTGTGCTAGAGTGTGCACCCATGAGTCTAGCATATGTTTATACA AACATTTGTGTACAAATAGGTATGTGTAGATGCACATACAAAATTATAAA CCTCACTGATCTTAATAACC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01517.hp2 HG02056.hp2 others(6): Show HG01123.hp1 HG01517.hp2 HG02056.hp2 HG02572.hp1 HG02630.hp1 HG02809.hp1 HG03654.hp2 NA18950.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0060 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0060 a0001c0001t0008g0069 a0001c0001t0015g0023 a0001c0002t0001g0006 a0001c0002t0001g0052 a0001c0002t0002g0011 a0001c0002t0003g0039	9	80	0.1125	-119	c.62- others(19): Show c.62-408715_62-408597del		KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8						chr4	TogoVar
KIAA1328_chr18_36824127_37230334	37084910	TAGGCCTT others(112): Show TAGGCCTTGAACCTGGGTCCTGGATCCTGGGTCTGTGGAGCCAGCCCAGC ACTGGATTCTATGCGGTCAGGCCTAGGTCTGCCTCAGGTTGAGACTATAA AGACTGACCTAGCATGGGGC	T T	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	200	0.0050	-119	c.123 others(21): Show c.1232+17369_1232+17487del		KIAA1328	ENSG00000150477.15	transcript	ENST00000280020.10	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
KRTAP1-1_chr17_41035541_41046450	41035640	CTTTCTCC others(112): Show CTTTCTCCCTTCCTTCCTTCCTTCCCTCCTTTCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTCTTTCTTTCTT TCTTTCCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	403	0.0025	-119	c.51 others(11): Show c.5105_*5223del		KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding					4900		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035640	CTTTCTCC others(112): Show CTTTCTCCCTTCCTTCCTTCCTTCCCTCCTTTCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCTTTCTCTTTCTTTCTT TCTTTCCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	2	435	0.0046	-119	c.-93 others(9): Show c.-938_-820del		KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding					767		chr17	TogoVar
KRTAP4-12_chr17_41118091_41129182	41123867	AGCAGCTG others(112): Show AGCAGCTGGACACACAGCAGCTGGGGCGGCAGCAGGTGGTCCTACAGCAG GTGGTCTGACAGCAGCTGGGGCGGCAGCAGGTGGGCTGACAGCACACAGA CTGGCAGCACTGGGGCCTGC	A A	frameshift_variant frameshift_variant	HIGH	NA18997.hp1 NA18997.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0000 a0007c0013t0002g0000	1	423	0.0024	-119	c.137 others(7): Show c.137_255del	p.Cys others(4): Show p.Cys46fs	KRTAP4-12	ENSG00000213416.4	transcript	ENST00000394014.2	protein_coding	1/1	315/1092	137/606	46/201			chr17	TogoVar
L1TD1_chr1_62189849_62217328	62217209	AGCTAATT others(112): Show AGCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01515.hp2 HG01517.hp2 others(12): Show HG01109.hp1 HG01515.hp2 HG01517.hp2 HG02040.hp2 HG02523.hp2 HG03453.hp2 HG03490.hp1 HG04115.hp2 HG04204.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18988.hp2 NA19056.hp2 NA19082.hp1	a0002 a0006 a0008 others(2): Show a0002 a0006 a0008 a0015 a0017	a0002c0007 a0006c0014 a0008c0020 others(2): Show a0002c0007 a0006c0014 a0008c0020 a0015c0036 a0017c0022	a0002c0007t0009 a0006c0014t0011 a0008c0020t0027 others(2): Show a0002c0007t0009 a0006c0014t0011 a0008c0020t0027 a0015c0036t0011 a0017c0022t0011	a0002c0007t0009g0358 a0002c0007t0009g0359 a0002c0007t0009g0360 others(11): Show a0002c0007t0009g0358 a0002c0007t0009g0359 a0002c0007t0009g0360 a0002c0007t0009g0361 a0002c0007t0009g0363 a0002c0007t0009g0364 a0002c0007t0009g0366 a0002c0007t0009g0367 a0006c0014t0011g0006 a0006c0014t0011g0354 a0006c0014t0011g0355 a0008c0020t0027g0042 a0015c0036t0011g0356 a0017c0022t0011g0357	15	414	0.0362	-119	c.58 others(11): Show c.5838_*5956del		L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding					4882		chr1	TogoVar
LAIR1_chr19_54346384_54369931	54350293	AAAATCAA others(112): Show AAAATCAAAGACATTTCCGAAAGAATGTACAATAATCAATAGCAGTTTGG CCCCAGTGTTATAGAGGATGGGGAGAAGGTGGAAGAATGAGAAAATAACA CGCATTTCACGTAGTATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0033 a0016c0016t0033	a0016c0016t0033g0194 a0016c0016t0033g0194	1	462	0.0022	-119	c.48 others(11): Show c.4856_*4974del		LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding					1090		chr19	TogoVar
LCN15_chr9_136754634_136769518	136769219	CCCCCCCG others(112): Show CCCCCCCGCCACCCCCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCC TCCATGCACTGCCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCC CGCCACCCCCCCATGCACTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00735.hp2 others(37): Show HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01993.hp1 HG02074.hp2 HG02257.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03209.hp1 HG03239.hp1 HG03831.hp1 HG04115.hp2 HG04204.hp2 NA18950.hp1 NA18952.hp2 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0001 a0001c0001t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0041 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0007c0011t0001g0070	40	356	0.1124	-119	c.-48 others(11): Show c.-4850_-4732del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4702		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769230	CCCCCCCA others(112): Show CCCCCCCATGCACTGCCCCCCCCGCCACCCCGCCACCCCTCCATGCACTG CCCCCCCGCCACCCCGCCACCCCTCCATGCACTGCCCCCCGCCACCCCCC CATGCACTGCCCCCCCGCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01243.hp2 HG01261.hp2 others(8): Show HG00544.hp2 HG01243.hp2 HG01261.hp2 HG02027.hp2 HG02630.hp2 HG02698.hp2 HG04199.hp1 NA18995.hp1 NA19063.hp2 NA19066.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005	11	356	0.0309	-119	c.-48 others(11): Show c.-4861_-4743del		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4713		chr9	TogoVar
LMF1_chr16_848634_975984	859222	GCAGTGGT others(112): Show GCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTG TTGTCACGGGACGGGTGTGC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0006 a0006	a0006c0052 a0006c0052	a0006c0052t0001 a0006c0052t0001	a0006c0052t0001g0243 a0006c0052t0001g0243	1	294	0.0034	-119	c.153 others(19): Show c.1530-4635_1530-4517del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	859286	CGGGTGTG others(112): Show CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGTTGTCACGGGACGG GTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGT GTGCAGTGGTGTCTCGGGAG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp1 HG03098.hp1 HG03453.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0234 a0001c0025t0001g0235 a0001c0025t0001g0234 a0001c0025t0001g0235	2	294	0.0068	-119	c.153 others(19): Show c.1530-4699_1530-4581del		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LOC400499_chr16_11367015_11532247	11493885	GGGGCAGT others(112): Show GGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGG CGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGC GGGGCAGTGGCGTGGGGGGC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG03490.hp2 others(7): Show HG00621.hp1 HG00738.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp2 NA18944.hp2 NA18956.hp2 NA19070.hp1 NA19085.hp1 NA20805.hp1	a0009 a0042 a0049 others(7): Show a0009 a0042 a0049 a0168 a0176 a0178 a0201 a0212 a0246 a0255	a0009c0007 a0042c0086 a0049c0258 others(7): Show a0009c0007 a0042c0086 a0049c0258 a0168c0242 a0176c0259 a0178c0260 a0201c0256 a0212c0257 a0246c0253 a0255c0255	a0009c0007t0004 a0042c0086t0009 a0049c0258t0003 others(7): Show a0009c0007t0004 a0042c0086t0009 a0049c0258t0003 a0168c0242t0004 a0176c0259t0003 a0178c0260t0003 a0201c0256t0001 a0212c0257t0001 a0246c0253t0004 a0255c0255t0002	a0009c0007t0004g0055 a0042c0086t0009g0072 a0049c0258t0003g0184 others(7): Show a0009c0007t0004g0055 a0042c0086t0009g0072 a0049c0258t0003g0184 a0168c0242t0004g0190 a0176c0259t0003g0181 a0178c0260t0003g0180 a0201c0256t0001g0273 a0212c0257t0001g0272 a0246c0253t0004g0264 a0255c0255t0002g0049	10	310	0.0323	-119	c.143 others(16): Show c.1432-208_1432-90del		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66						chr16	TogoVar
LPP_chr3_188149157_188895671	188785372	TATATATA others(112): Show TATATATATTCCATCATATATATATATTCCATCATATATATATATTCCAT CATATATATATTCCATCATATATATATATTCCATCATATATATATATTCC ATCATATATATATATTCATC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0031 a0001c0001t0049g0031	1	76	0.0132	-119	c.141 others(21): Show c.1410+25099_1410+25217del		LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr3	TogoVar
LRBA_chr4_150259435_151020284	150658521	CCCTCTCC others(112): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTGCCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	180	0.0056	-119	c.592 others(21): Show c.5921+24911_5921+25029del		LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56						chr4	TogoVar
LRRC27_chr10_132327193_132386508	132358328	GAGCAGCG others(112): Show GAGCAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGAGCCG AGGTGATGGAGCAGCGTGGGGAGGAGCCGAGGTGGTGGAGCAGCGTGGGG AGGAGCCGAGGTGATGGAGC	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0279 a0001c0002t0004g0279	1	290	0.0035	-119	c.117 others(19): Show c.1170+2446_1170+2564del		LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
LSS_chr21_46183446_46233774	46193733	TGTGTGTG others(112): Show TGTGTGTGCACAGACCTGTGTGTGCATCTGTCTCCATGTACCTACGTCTG TGTGTGGCACAGATGGGATCCTGTGGGTGCATCTGTACGTGTGTGTACAC AGGTGCCTGTGCATGCATAC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0007 a0007	a0007c0030 a0007c0030	a0007c0030t0001 a0007c0030t0001	a0007c0030t0001g0200 a0007c0030t0001g0200	1	358	0.0028	-119	c.198 others(17): Show c.1988+639_1988+757del		LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding	20/21						chr21	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(112): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	350	0.0029	-119	c.30 others(11): Show c.3045_*3163del		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2955		chr16	TogoVar
MAN2B2_chr4_6570189_6628362	6613638	GGAAAAGA others(112): Show GGAAAAGAAGAGAGGGATGGAAGGAAGGAAAGAAGGGAGGAAGGAAGGAG GGAAGGAAGGAAGGAAGTGAGGGAGGGAGGGGAAGGGAAGGGAACGGAAG GGAGGGGACGGGAGGGAAAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0014 a0014	a0014c0055 a0014c0055	a0014c0055t0014 a0014c0055t0014	a0014c0055t0014g0040 a0014c0055t0014g0040	1	362	0.0028	-119	c.256 others(17): Show c.2564-563_2564-445del		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6613655	TGGAAGGA others(112): Show TGGAAGGAAGGAAAGAAGGGAGGAAGGAAGGAGGGAAGGAAGGAAGGAAG TGAGGGAGGGAGGGGAAGGGAAGGGAACGGAAGGGAGGGGACGGGAGGGA AAAGAAAAGAAGAGAGGGAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0035 a0035	a0035c0049 a0035c0049	a0035c0049t0017 a0035c0049t0017	a0035c0049t0017g0130 a0035c0049t0017g0130	1	362	0.0028	-119	c.256 others(17): Show c.2564-544_2564-426del		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	15/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19452210	GAAGAGAA others(112): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	163	0.0061	-119	c.995 others(17): Show c.995+4584_995+4702del		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28						chrX	TogoVar
MAP4K4_chr2_101692707_101899690	101785675	TCCCTCTC others(112): Show TCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA19007.hp2 HG02135.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0252 a0001c0002t0005g0272 a0001c0002t0005g0252 a0001c0002t0005g0272	2	310	0.0065	-119	c.124 others(17): Show c.124-5044_124-4926del		MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32						chr2	TogoVar
MDGA2_chr14_46835092_47680605	47627281	TAGCTAAG others(112): Show TAGCTAAGGGATTGTGAATGCACCAATCGGCACTCTGCATCTAGCTCAAG GTTTGTGAATGCACCAACTGGCACTCTGTGTCTAGTTAATCTGGTGGGGA CTTGGAGAACCTTTATGTCC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	120	0.0083	-119	c.280 others(19): Show c.280+47117_280+47235del		MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16						chr14	TogoVar
MIS18A_chr21_32263228_32284049	32265811	GTGGAGAG others(112): Show GTGGAGAGTCTTTATATCTAGCTCAAGGATTGTAAATACACCAATCAGCA CCCTGTGTTTAGCTCAAGGTTTGTGAGTGCACCAATCGGCACTCTGTATC TAGCTGCTCTGGTGAGGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 NA18947.hp2 NA18984.hp1 HG02258.hp2 NA18947.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0003g0019 a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0003g0019	3	404	0.0074	-119	c.31 others(11): Show c.3107_*3225del		MIS18A	ENSG00000159055.4	transcript	ENST00000290130.4	protein_coding					2416		chr21	TogoVar
MLPH_chr2_237482251_237560322	237542853	TGGCGGAC others(112): Show TGGCGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACAGTAGTGAG TGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGCACGGTAGTGAGTG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp2 HG03225.hp1 others(3): Show HG01496.hp2 HG02922.hp2 HG03225.hp1 HG03540.hp1 HG03669.hp1 NA19240.hp2	a0009 a0032 a0009 a0032	a0009c0009 a0032c0048 a0009c0009 a0032c0048	a0009c0009t0002 a0032c0048t0001 a0009c0009t0002 a0032c0048t0001	a0009c0009t0002g0007 a0009c0009t0002g0102 a0009c0009t0002g0113 others(3): Show a0009c0009t0002g0007 a0009c0009t0002g0102 a0009c0009t0002g0113 a0009c0009t0002g0121 a0009c0009t0002g0122 a0032c0048t0001g0039	6	286	0.0210	-119	c.153 others(17): Show c.1539+197_1539+315del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544166	GGACAGTG others(112): Show GGACAGTGGTGAGTGGGGGGACAGTGTGTGGGGGGACAGTGGTGAGTTGG GGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGACAGTAATGAGTCG GGGGACAGTGGTGAGTGGGC	G G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	286	0.0035	-119	c.153 others(19): Show c.1539+1508_1539+1626del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15						chr2	TogoVar
MROH2A_chr2_233773330_233838418	233787726	CATATATA others(112): Show CATATATACATATATATTATATATATTATATATATCATATATACATATAT ATTATATATATCATATATAATATATATTATATATATTATATATAATATAT ATTATATATACATATATATT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0293 a0010c0022t0001g0293	1	378	0.0027	-119	c.277 others(17): Show c.277-1746_277-1628del		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
MTA1_chr14_105414827_105475729	105459713	CTGGGGGC others(112): Show CTGGGGGCAGTCCGTGCTGCCCATGGCCCCTGGTCCCTGGTCCCTGGGGA GCTGTGTGCCTGGGGGGAGTCCGTGCTGCCCGTGGCCCCTGGTCCCTGGT CCCTGGGGAGCTGTGTGCCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	304	0.0033	-119	c.654 others(15): Show c.654-644_654-526del		MTA1	ENSG00000182979.18	transcript	ENST00000331320.12	protein_coding	8/20						chr14	TogoVar
MUSK_chr9_110663791_110811558	110701652	ATTTATTT others(112): Show ATTTATTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02965.hp1 HG03471.hp2 HG01255.hp2 HG02965.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0006 a0001c0010t0006 a0001c0001t0006 a0001c0010t0006	a0001c0001t0006g0166 a0001c0010t0006g0131 a0001c0010t0006g0133 a0001c0001t0006g0166 a0001c0010t0006g0131 a0001c0010t0006g0133	3	326	0.0092	-119	c.628 others(17): Show c.628+4189_628+4307del		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYO10_chr5_16656907_16941288	16718711	GTGGAGAA others(112): Show GTGGAGAACCTTTATGTCTAGCTCAAGGATTGTAAATACACCAATCGGCA CCCTGTGTTTAGCTCAAGGTTTGTGAGTACACCAATCAACACTCTGTATC TAGCTGCTCTGGTGGGGCCT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	272	0.0037	-119	c.193 others(19): Show c.1930-7585_1930-7467del		MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	19/40						chr5	TogoVar
NKD1_chr16_50543396_50654249	50563549	CCATGGAG others(112): Show CCATGGAGAAGACCCTGTGTGTCAGGCTAAACTCCATCCTCAGTGGGCAC AGCCCTGGATGCATGGAGAAGACCCTGTGTGTCAGGCTAAACTCCATCCT CAGTGGGCAAGCCCTGGATG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp2 HG02280.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0001 a0001c0001t0020g0001	2	212	0.0094	-119	c.192 others(19): Show c.192+14084_192+14202del		NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRP8_chr19_55942832_55993629	55993474	CCCCTCCC others(112): Show CCCCTCCCTCCCCCTCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCTCCCC CCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCT CCCCTCCTCTCCTCCCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG02738.hp1 HG03225.hp1 others(8): Show HG01993.hp1 HG02738.hp1 HG03225.hp1 HG03239.hp2 HG03540.hp1 HG03688.hp1 HG03834.hp2 HG04184.hp2 NA18946.hp1 NA18973.hp1 NA19086.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 others(5): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0003c0004t0021 a0003c0004t0023	a0001c0001t0005g0079 a0001c0001t0007g0087 a0001c0001t0007g0093 others(8): Show a0001c0001t0005g0079 a0001c0001t0007g0087 a0001c0001t0007g0093 a0001c0001t0014g0041 a0001c0001t0014g0088 a0001c0001t0021g0075 a0001c0001t0022g0055 a0001c0001t0023g0080 a0001c0001t0023g0084 a0003c0004t0021g0222 a0003c0004t0023g0186	11	350	0.0314	-119	c.55 others(11): Show c.5562_*5680del		NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding					4846		chr19	TogoVar
NTM_chr11_131365615_132341822	131598773	TCTTTCTT others(112): Show TCTTTCTTTCTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTCTTTCTTTC TTTCTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01074.hp2 HG01515.hp2 others(2): Show HG00558.hp1 HG01074.hp2 HG01515.hp2 HG01978.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0002g0031 a0001c0001t0002g0079 a0001c0002t0001g0075 others(2): Show a0001c0001t0002g0031 a0001c0001t0002g0079 a0001c0002t0001g0075 a0001c0002t0002g0069 a0001c0002t0005g0039	5	86	0.0581	-119	c.82+ others(19): Show c.82+227886_82+228004del		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8						chr11	TogoVar
NXN_chr17_794310_984776	894081	TCCCTGGA others(112): Show TCCCTGGAAGCCAGAGGAAGCATCTCAACTCCCTGGAAGCCAGAGGAAGC ATCTCAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGC CAGAGGAAGCATCTCAAACG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0200 a0001c0001t0025g0200	1	242	0.0041	-119	c.361 others(19): Show c.361-68122_361-68004del		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OSBPL5_chr11_3082107_3170310	3103744	AACCCTCT others(112): Show AACCCTCTTCCAGCTCTGCAGCCCCCTTCCAGCCTCTGCAGTCCCTTCCT GCCTCTGCAGCCCTCTTCCTGCCTGCGCAGCCCCCTTCCAGCCTCTGCAG CCCCTTTCCAGTCTGCGCAG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG00735.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0083 a0001c0001t0002g0084	2	326	0.0061	-119	c.124 others(17): Show c.1244+330_1245-425del		OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	10/21						chr11	TogoVar
PAQR5_chr15_69293912_69412780	69300583	TTCTTTCC others(112): Show TTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCATTCTTTCTCTTCCTT CCTCCCTCCCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA18906.hp2 HG02897.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0250 a0001c0001t0006g0251 a0001c0001t0003g0250 a0001c0001t0006g0251	2	284	0.0070	-119	c.-27 others(19): Show c.-277+1534_-277+1652del		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD6G_chr18_80152232_80252514	80186367	ACACCCAC others(112): Show ACACCCACACATGCTCGCACACCCTCACACATGCATGCACCCTCACACAC GCATATGCCCTCACATATGCTTGCACACCCACACACGCATACACCCTCAA GGCTCGCACACCCTCACATG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19043.hp2 HG02809.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0082 a0001c0003t0008g0083 a0001c0003t0008g0082 a0001c0003t0008g0083	2	382	0.0052	-119	c.295 others(19): Show c.295+16224_295+16342del		PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2						chr18	TogoVar
PCLAF_chr15_64359304_64386441	64371908	TTTTTAAC others(112): Show TTTTTAACCCACCTCCTGCACAAAAAATGGTCAATTTTTAAGTTGTAAAA ATTATTCAACATGTACAAAGTCACCTCTTAATTTCAAGATTAATCAAATA CGCCTTCAAAGGAAATCAAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(217): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0002c0002t0001 a0003c0003t0009	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(203): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0135 a0001c0001t0004g0022 a0001c0001t0004g0119 a0001c0001t0004g0132 a0001c0001t0004g0141 a0001c0001t0004g0154 a0001c0001t0004g0189 a0001c0001t0004g0200 a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0212 a0001c0001t0004g0217 a0001c0001t0008g0157 a0001c0001t0008g0160 a0001c0001t0008g0163 a0001c0001t0008g0223 a0001c0001t0008g0224 a0001c0001t0008g0260 a0001c0001t0009g0020 a0001c0001t0009g0134 a0001c0001t0009g0253 a0001c0001t0009g0254 a0001c0001t0012g0142 a0001c0001t0012g0143 a0001c0001t0012g0210 a0001c0001t0013g0186 a0001c0001t0013g0195 a0001c0001t0013g0196 a0001c0001t0016g0233 a0001c0001t0016g0234 a0001c0001t0021g0240 a0001c0001t0021g0277 a0001c0001t0022g0208 a0001c0001t0024g0040 a0001c0001t0025g0213 a0001c0001t0026g0192 a0001c0001t0027g0146 a0002c0002t0001g0048 a0003c0003t0009g0184	220	298	0.7383	-119	c.290 others(17): Show c.290+4716_290+4834del		PCLAF	ENSG00000166803.14	transcript	ENST00000300035.9	protein_coding	3/3						chr15	TogoVar
PGBD5_chr1_230309490_230431332	230396148	CTTTTACT others(112): Show CTTTTACTCCCACACTCCTCCCTTTTACCCACATTCCTTTTTACCCCCCC ACTCTTCCCTTTTACTCACATTCCTCCTTTTTACCCCCACACTCCTCCCT TTTACCCCCACACTCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0231 a0001c0001t0007g0231	1	288	0.0035	-119	c.331 others(19): Show c.331+29331_331+29449del		PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6						chr1	TogoVar
PID1_chr2_229018973_229276287	229184048	ATATATCC others(112): Show ATATATCCCATATATATATCCCATATGTATATCCCATATATATATCCCAT ATGTATATCCCATATGTATATCCCATATGTATATCCCATATGTATATCCC ATATGTATATATCCCATATG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02055.hp1 others(7): Show HG01106.hp1 HG01884.hp1 HG02055.hp1 HG02451.hp1 HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02976.hp1 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0129 a0001c0001t0002g0135 a0001c0001t0003g0026 others(7): Show a0001c0001t0001g0129 a0001c0001t0002g0135 a0001c0001t0003g0026 a0001c0001t0003g0136 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0005g0070 a0001c0001t0006g0062	10	256	0.0391	-119	c.31- others(17): Show c.31-28203_31-28085del		PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2						chr2	TogoVar

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