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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HDAC4_chr2_239043168_239406020	239068848	ACACTTGC others(91): Show ACACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG CACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00438.hp2 others(95): Show HG00099.hp1 HG00099.hp2 HG00438.hp2 HG00621.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18950.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19079.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0016 a0001c0032 a0002c0018 a0002c0019 a0008c0020 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0026 a0001c0001t0035 a0001c0001t0037 a0001c0001t0039 a0001c0001t0046 a0001c0001t0056 a0001c0001t0057 a0001c0001t0061 a0001c0001t0066 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0015 a0001c0002t0016 a0001c0002t0058 a0001c0003t0001 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0007 a0001c0003t0010 a0001c0003t0022 a0001c0003t0065 a0001c0004t0004 a0001c0004t0032 a0001c0004t0059 a0001c0004t0062 a0001c0004t0068 a0001c0006t0001 a0001c0006t0026 a0001c0007t0003 a0001c0007t0005 a0001c0007t0007 a0001c0007t0021 a0001c0007t0036 a0001c0008t0001 a0001c0009t0040 a0001c0009t0053 a0001c0009t0054 a0001c0010t0003 a0001c0010t0008 a0001c0010t0041 a0001c0016t0003 a0001c0016t0019 a0001c0032t0001 a0002c0018t0001 a0002c0019t0019 a0008c0020t0038 a0009c0021t0001	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0051 others(95): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0051 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0175 a0001c0001t0001g0199 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0002g0195 a0001c0001t0003g0033 a0001c0001t0003g0043 a0001c0001t0003g0067 a0001c0001t0003g0093 a0001c0001t0003g0097 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0004g0020 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0160 a0001c0001t0007g0054 a0001c0001t0011g0200 a0001c0001t0011g0211 a0001c0001t0014g0139 a0001c0001t0015g0238 a0001c0001t0018g0201 a0001c0001t0021g0137 a0001c0001t0026g0176 a0001c0001t0035g0090 a0001c0001t0037g0055 a0001c0001t0039g0219 a0001c0001t0046g0057 a0001c0001t0056g0125 a0001c0001t0057g0088 a0001c0001t0061g0076 a0001c0001t0066g0007 a0001c0002t0001g0113 a0001c0002t0001g0182 a0001c0002t0001g0207 a0001c0002t0004g0028 a0001c0002t0006g0032 a0001c0002t0008g0131 a0001c0002t0009g0100 a0001c0002t0009g0170 a0001c0002t0009g0172 a0001c0002t0012g0111 a0001c0002t0012g0143 a0001c0002t0012g0242 a0001c0002t0015g0183 a0001c0002t0016g0053 a0001c0002t0058g0142 a0001c0003t0001g0233 a0001c0003t0003g0070 a0001c0003t0004g0019 a0001c0003t0004g0123 a0001c0003t0005g0005 a0001c0003t0005g0081 a0001c0003t0005g0230 a0001c0003t0007g0124 a0001c0003t0007g0229 a0001c0003t0010g0071 a0001c0003t0010g0072 a0001c0003t0010g0073 a0001c0003t0022g0047 a0001c0003t0065g0040 a0001c0004t0004g0011 a0001c0004t0004g0015 a0001c0004t0032g0048 a0001c0004t0059g0008 a0001c0004t0062g0077 a0001c0004t0068g0091 a0001c0006t0001g0192 a0001c0006t0026g0060 a0001c0007t0003g0078 a0001c0007t0005g0127 a0001c0007t0007g0017 a0001c0007t0021g0026 a0001c0007t0036g0013 a0001c0008t0001g0206 a0001c0009t0040g0074 a0001c0009t0053g0006 a0001c0009t0054g0122 a0001c0010t0003g0036 a0001c0010t0008g0069 a0001c0010t0041g0068 a0001c0016t0003g0031 a0001c0016t0019g0130 a0001c0032t0001g0050 a0002c0018t0001g0096 a0002c0019t0019g0010 a0008c0020t0038g0056 a0009c0021t0001g0117	98	139	0.7050	-98	c.275 others(115): Show c.2751-339_2751-242delCAGTGGGGCTTGCTGGCTTGCACCGTGA CTCCCTCTCACCAAGCAAGTGCAGTGGGGCTTGCTGGCTTGCACCGTGAC TCCCTCTCACCAAGCAAGTG	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HGSNAT_chr8_43135464_43207855	43181082	GGAGGGAG others(91): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	200	0.0100	-98	c.101 others(116): Show c.1013-1061_1013-964delAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HMOX1_chr22_35376096_35399207	35389332	TTCTTTCT others(91): Show TTCTTTCTTCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02818.hp2 others(2): Show HG02055.hp1 HG02486.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0066 others(2): Show a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0073	5	381	0.0131	-98	c.637 others(113): Show c.637-523_637-426delCTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTATCTTTCTT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HSPBAP1_chr3_122734999_122798831	122780135	AGCTGACC others(91): Show AGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG01433.hp1 others(14): Show HG00621.hp2 HG00735.hp1 HG01433.hp1 HG01516.hp1 HG01884.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03579.hp1 NA19043.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0008	a0001c0001t0002 a0002c0002t0003 a0003c0003t0003 others(2): Show a0001c0001t0002 a0002c0002t0003 a0003c0003t0003 a0004c0004t0002 a0006c0008t0002	a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0195 others(14): Show a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0195 a0001c0001t0002g0267 a0002c0002t0003g0155 a0002c0002t0003g0156 a0002c0002t0003g0157 a0003c0003t0003g0292 a0003c0003t0003g0293 a0003c0003t0003g0294 a0003c0003t0003g0295 a0003c0003t0003g0297 a0003c0003t0003g0298 a0003c0003t0003g0299 a0003c0003t0003g0300 a0004c0004t0002g0199 a0006c0008t0002g0296	17	173	0.0983	-98	c.65- others(113): Show c.65-2327_65-2230delCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAG GGAGGTGGGGGGGTCAGC	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	1/7			chr3	TogoVar
IGF2_chr11_2124117_2144389	2125181	TTGGATGG others(91): Show TTGGATGGATGAGTGGGCGAGTGAGAGGTAAGTGGGTGAGTGGATAGATG GATAGATGAATAGATAGATGACTGGGTGGGTGGATGGAGGGTGAGTGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02922.hp1 HG02280.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0140 a0001c0001t0196 a0001c0001t0140 a0001c0001t0196	a0001c0001t0140g0136 a0001c0001t0196g0284 a0001c0001t0140g0136 a0001c0001t0196g0284	2	386	0.0052	-98	c.77 others(109): Show c.7708_*7805delTCCACTCACCCTCCATCCACCCACCCAGTCATCT ATCTATTCATCTATCCATCTATCCACTCACCCACTTACCTCTCACTCGCC CACTCATCCATCCA	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		3935		chr11	TogoVar
IGF2_chr11_2124117_2144389	2125199	GAGTGAGA others(91): Show GAGTGAGAGGTAAGTGGGTGAGTGGATAGATGGATAGATGAATAGATAGA TGACTGGGTGGGTGGATGGAGGGTGAGTGGATGGATGGATGAGTGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0072 a0001c0001t0030g0072	1	386	0.0026	-98	c.76 others(109): Show c.7690_*7787delTGCCCACTCATCCATCCATCCACTCACCCTCCAT CCACCCACCCAGTCATCTATCTATTCATCTATCCATCTATCCACTCACCC ACTTACCTCTCACT	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		3917		chr11	TogoVar
IL3RA_chrX_1331785_1387689	1367000	GGGTGAGC others(91): Show GGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGGTGAGCCGGGTG CGCGGGGTGAGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	113	0.0088	-98	c.874 others(115): Show c.874+1751_874+1848delTGAGCGGGGTGCGCGGGGTGCGCGGGGT GCGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGAGCCGGGTGCGCG GGGTGAGCGGGGTGAGCCGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5F_chr10_119721050_119834147	119722321	CGCCCGGC others(91): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCGGGGAGGGAGGTGGGGGGATCAGGCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(156): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18954.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19078.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0013	a0001c0001 a0001c0003 a0001c0011 others(11): Show a0001c0001 a0001c0003 a0001c0011 a0001c0014 a0001c0015 a0002c0002 a0004c0006 a0006c0010 a0007c0008 a0008c0012 a0009c0018 a0010c0017 a0011c0016 a0013c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0003t0003 a0001c0003t0005 a0001c0003t0017 a0001c0011t0001 a0001c0014t0001 a0001c0015t0001 a0002c0002t0002 a0002c0002t0011 a0004c0006t0001 a0006c0010t0001 a0007c0008t0001 a0008c0012t0001 a0009c0018t0001 a0010c0017t0004 a0011c0016t0001 a0013c0013t0001	a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 others(156): Show a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0300 a0001c0001t0001g0319 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0183 a0001c0001t0004g0189 a0001c0001t0004g0199 a0001c0001t0010g0180 a0001c0001t0010g0181 a0001c0001t0012g0110 a0001c0001t0012g0111 a0001c0001t0016g0174 a0001c0003t0003g0055 a0001c0003t0003g0060 a0001c0003t0003g0071 a0001c0003t0003g0080 a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0003g0085 a0001c0003t0003g0101 a0001c0003t0003g0109 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0186 a0001c0003t0003g0187 a0001c0003t0003g0318 a0001c0003t0005g0045 a0001c0003t0005g0072 a0001c0003t0005g0073 a0001c0003t0005g0200 a0001c0003t0017g0103 a0001c0011t0001g0079 a0001c0014t0001g0154 a0001c0015t0001g0317 a0002c0002t0002g0023 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0053 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0081 a0002c0002t0002g0092 a0002c0002t0002g0140 a0002c0002t0002g0142 a0002c0002t0011g0138 a0002c0002t0011g0139 a0004c0006t0001g0086 a0004c0006t0001g0162 a0004c0006t0001g0166 a0004c0006t0001g0167 a0006c0010t0001g0047 a0006c0010t0001g0089 a0007c0008t0001g0049 a0007c0008t0001g0093 a0008c0012t0001g0064 a0009c0018t0001g0084 a0010c0017t0004g0182 a0011c0016t0001g0063 a0013c0013t0001g0163	159	325	0.4892	-98	c.-39 others(109): Show c.-3941_-3844delGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCGGGGAGGGAGGTGGG GGGATCAGGCCCCT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding		3728		chr10	TogoVar
INPP5F_chr10_119721050_119834147	119722370	CGCCCGGC others(91): Show CGCCCGGCCAGCCGCCCCGTCGGGGAGGGAGGTGGGGGGATCAGGCCCCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	324	0.0031	-98	c.-38 others(109): Show c.-3892_-3795delGCCCGGCCAGCCGCCCCGTCGGGGAGGGAGGTGG GGGGATCAGGCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding		3679		chr10	TogoVar
INPP5F_chr10_119721050_119834147	119794652	ACCCCCCA others(91): Show ACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGGCTGAC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0004 a0001c0001t0014g0004	1	326	0.0031	-98	c.670 others(115): Show c.670-2028_670-1931delAGGCGGGGGGCTGACCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCAGGTGGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCC	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQCA1_chr2_236319151_236512476	236491120	TGTGTATA others(91): Show TGTGTATATATATATATATACAGTATATATATACACACAGTATATATATA TATATATATATACACACAGTATATATATATATATATATATATACACACA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0135 a0005c0009t0005g0135	1	206	0.0049	-98	c.456 others(115): Show c.456+2550_456+2647delTGTGTGTATATATATATATATATATATA TACTGTGTGTATATATATATATATATATATACTGTGTGTATATATATACT GTATATATATATATATACAC	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	3/18			chr2	TogoVar
IRS2_chr13_109747695_109791583	109765691	AACTCCCC others(91): Show AACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACTTTGGCTCCT CCTCCCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00642.hp1 others(9): Show HG00140.hp2 HG00423.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG02148.hp2 HG02293.hp1 NA18939.hp1 NA18956.hp1 NA18968.hp1 NA18985.hp2 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0001c0005 a0003c0010 a0001c0004 a0001c0005 a0003c0010	a0001c0004t0019 a0001c0005t0010 a0001c0005t0023 others(1): Show a0001c0004t0019 a0001c0005t0010 a0001c0005t0023 a0003c0010t0010	a0001c0004t0019g0045 a0001c0004t0019g0240 a0001c0005t0010g0013 others(6): Show a0001c0004t0019g0045 a0001c0004t0019g0240 a0001c0005t0010g0013 a0001c0005t0010g0170 a0001c0005t0010g0173 a0001c0005t0010g0174 a0001c0005t0023g0171 a0001c0005t0023g0172 a0003c0010t0010g0059	12	396	0.0303	-98	c.401 others(117): Show c.4013-9481_4013-9384delCGGAGTCAGGGTGGTTGAGGCTGGGA TATCTACATGCTTGGTGGGGAGGAGGAGCCAAAGTGGATGAGGCTGGGAT ATCTACATGCTTGGTGGGGAGT	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
IRS2_chr13_109747695_109791583	109766328	AACTCCCC others(91): Show AACTCCCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCG ACTCCCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01943.hp1 HG02630.hp1 others(1): Show HG01891.hp1 HG01943.hp1 HG02630.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0015 a0001c0004t0015 a0001c0004t0046 a0001c0001t0015 a0001c0004t0015 a0001c0004t0046	a0001c0001t0015g0105 a0001c0004t0015g0245 a0001c0004t0015g0246 others(1): Show a0001c0001t0015g0105 a0001c0004t0015g0245 a0001c0004t0015g0246 a0001c0004t0046g0247	4	382	0.0105	-98	c.401 others(119): Show c.4013-10118_4013-10021delCGGAGTCAGGGTGGTTGAGGCTGG GATATCTACATGCTTGGTGGGGAGTCGGAGTCAGGGTGGTTGAGGCTGGG ATATCTACATGCTTGGTGGGGAGT	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
IRS2_chr13_109747695_109791583	109766586	GCATGTAG others(91): Show GCATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAAG CATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0053 a0001c0007t0011g0053	1	369	0.0027	-98	c.401 others(119): Show c.4013-10376_4013-10279delTTTGGTGGGGAGTTGGAGTCAGGG TGGATGAGGCTGGGATATCTACATGCTTGGTGGGGAGTCGGAGCCAGGGT GGATGAGGCTGGGATATCTACATG	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
ISYNA1_chr19_18429388_18443133	18437344	GGGGTCCG others(91): Show GGGGTCCGCCTGCAGCCAGGCCCCGCCCCCTGCAAGCCCTCCCGCCCCAC AGAGCTTCGCCCCCTGCAGGTCCCTCGCCCACTACAGGCCTCCAGACCC	G G	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	306	0.0033	-98	c.282 others(113): Show c.282+157_283-240delGGGTCTGGAGGCCTGTAGTGGGCGAGGGAC CTGCAGGGGGCGAAGCTCTGTGGGGCGGGAGGGCTTGCAGGGGGCGGGGC CTGGCTGCAGGCGGACCC	ISYNA1	ENSG00000105655.19	transcript	ENST00000338128.13	protein_coding	3/10			chr19	TogoVar
ITIH2_chr10_7698316_7754520	7737649	TATATTAT others(91): Show TATATTATATTCTATATTATATTCTATATTTTCTATATTATATTCTATAT AATATTCTATATTATATTCTATATAATATTCTATATTATATTCTATATA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02080.hp2 HG02135.hp1 others(19): Show HG02071.hp2 HG02080.hp2 HG02135.hp1 HG03831.hp1 HG03927.hp2 NA18942.hp1 NA18947.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18957.hp2 NA18965.hp1 NA18971.hp2 NA18983.hp2 NA18987.hp1 NA18999.hp1 NA19012.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0020 a0002c0003 a0002c0020	a0002c0003t0001 a0002c0020t0001 a0002c0003t0001 a0002c0020t0001	a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0039 others(17): Show a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0039 a0002c0003t0001g0154 a0002c0003t0001g0177 a0002c0003t0001g0181 a0002c0003t0001g0183 a0002c0003t0001g0185 a0002c0003t0001g0190 a0002c0003t0001g0196 a0002c0003t0001g0205 a0002c0003t0001g0206 a0002c0003t0001g0207 a0002c0003t0001g0208 a0002c0003t0001g0209 a0002c0003t0001g0214 a0002c0003t0001g0215 a0002c0003t0001g0230 a0002c0003t0001g0242 a0002c0020t0001g0278	22	370	0.0595	-98	c.195 others(115): Show c.1958-966_1958-869delATATTCTATATTATATTCTATATTTTCT ATATTATATTCTATATAATATTCTATATTATATTCTATATAATATTCTAT ATTATATTCTATATAATATT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737660	CTATATTA others(91): Show CTATATTATATTCTATATTTTCTATATTATATTCTATATAATATTCTATA TTATATTCTATATAATATTCTATATTATATTCTATATAATATTCTATAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0345 a0001c0002t0001g0345	1	307	0.0033	-98	c.195 others(115): Show c.1958-954_1958-857delATATTCTATATTTTCTATATTATATTCT ATATAATATTCTATATTATATTCTATATAATATTCTATATTATATTCTAT ATAATATTCTATATTATATT	ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITSN2_chr2_24197864_24365536	24251371	GTATATAT others(91): Show GTATATATGTATGTGTATATATATGTGTATATATATATGTGTGTATATAT ATGTGTATATATATGTGTGTATATATATGTGTATATATGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA18959.hp2 HG02717.hp2 NA18959.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0013 a0001c0001 a0012c0013	a0001c0001t0001 a0012c0013t0001 a0001c0001t0001 a0012c0013t0001	a0001c0001t0001g0033 a0012c0013t0001g0198 a0001c0001t0001g0033 a0012c0013t0001g0198	2	201	0.0100	-98	c.312 others(115): Show c.3120+876_3120+973delTATATATACACATATATACACATATATA TACACACATATATATACACATATATATACACACATATATATATACACATA TATATACACATACATATATA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251375	ATATGTAT others(91): Show ATATGTATGTGTATATATATGTGTATATATATATGTGTGTATATATATGT GTATATATATGTGTGTATATATATGTGTATATATGTGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0158 a0002c0002t0001g0158	1	105	0.0095	-98	c.312 others(115): Show c.3120+872_3120+969delCACATATATATACACATATATACACATA TATATACACACATATATATACACATATATATACACACATATATATATACA CATATATATACACATACATA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24251387	ATATATAT others(91): Show ATATATATGTGTATATATATATGTGTGTATATATATGTGTATATATATGT GTGTATATATATGTGTATATATGTGTATATATATGTGTATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03710.hp2 NA18945.hp2 others(4): Show HG03453.hp1 HG03710.hp2 NA18945.hp2 NA18949.hp1 NA18956.hp1 NA18963.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0069 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0149	7	160	0.0438	-98	c.312 others(115): Show c.3120+860_3120+957delCACATATATATACACATATATATACACA TATATACACATATATATACACACATATATATACACATATATATACACACA TATATATATACACATATATA	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
JPH3_chr16_87597508_87703156	87614700	GGGATAAA others(91): Show GGGATAAACTCTGGTCCCTGCACACACGAGGAGCCGCGCGTCCCCTCCCG GGATAAACGCTGGTCCCTGCACACACGAGGAGCCGCGTGTCCTCTCCCA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0356 a0001c0012t0001g0356	1	378	0.0026	-98	c.382 others(117): Show c.382+11181_382+11278delTCTGGTCCCTGCACACACGAGGAGCC GCGCGTCCCCTCCCGGGATAAACGCTGGTCCCTGCACACACGAGGAGCCG CGTGTCCTCTCCCAGGATAAAC	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JPH3_chr16_87597508_87703156	87614842	TTCCCGGG others(91): Show TTCCCGGGATAAACGCTGGTCCCTGCACACACGAGGAGCCGCGCGTCCCC TCCCGGGATAAACGCTGGTCCCTGCACACACGAGGAGCCGCGCGTCCCC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01346.hp1 HG02818.hp1 HG00738.hp1 HG01346.hp1 HG02818.hp1	a0001 a0001	a0001c0008 a0001c0009 a0001c0008 a0001c0009	a0001c0008t0001 a0001c0009t0001 a0001c0008t0001 a0001c0009t0001	a0001c0008t0001g0313 a0001c0008t0001g0370 a0001c0009t0001g0371 a0001c0008t0001g0313 a0001c0008t0001g0370 a0001c0009t0001g0371	3	187	0.0160	-98	c.382 others(117): Show c.382+11442_382+11539delACGAGGAGCCGCGCGTCCCCTCCCGG GATAAACGCTGGTCCCTGCACACACGAGGAGCCGCGCGTCCCCTCCCGGG ATAAACGCTGGTCCCTGCACAC	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	15048657	GTCCTGGG others(91): Show GTCCTGGGTCGCTGGTCCTGGGTCGTTGGTCCTGGGTCGTTGATCCTTGG TCGTTGGTCCTGGGTCGTTGGTCATGGGTCGTCGATCCTGGGTCGTCGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03471.hp1 HG02615.hp2 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0084 a0002c0002t0001g0041 a0002c0002t0001g0084	2	143	0.0140	-98	c.726 others(115): Show c.726+4509_726+4606delCTGGTCCTGGGTCGTTGGTCCTGGGTCG TTGATCCTTGGTCGTTGGTCCTGGGTCGTTGGTCATGGGTCGTCGATCCT GGGTCGTCGATCCTGGGTCG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1990608	CGGGGCCT others(91): Show CGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGCCTTGGCGCCCT GTCCGGGTAGGTGCTGCCGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTG	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	388	0.0026	-98	c.-90 others(117): Show c.-908-9676_-908-9579delGGGGCCTTGGCGCCCTGTCCGGGTAG GTGCTGCCGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCCGGGCCTTGG CGCCCTGTCCGGGTAGGTGCTG	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1			chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1990943	CCTTGGCG others(91): Show CCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCG GGTAGATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCCGGG	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	386	0.0026	-98	c.-90 others(117): Show c.-908-9340_-908-9243delTTGGCGCCCTGTCCGGGTAGGTGCTG CGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGGCGCCCT GTCCGGGTAGATGCTGCCGGGC	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNA5_chr12_5038879_5051788	5050919	CTGTCCTG others(91): Show CTGTCCTGTTCGTTTCACAGATGAACAAAGCAAGGCTCAGAGAGAAGAGG TAACTCACCCAAGGTCCCGCCTCCAATTAAGGCAGGATTGGCATTGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	450	0.0022	-98	c.49 others(109): Show c.4931_*5028delTGTCCTGTTCGTTTCACAGATGAACAAAGCAAGG CTCAGAGAGAAGAGGTAACTCACCCAAGGTCCCGCCTCCAATTAAGGCAG GATTGGCATTGTTT	KCNA5	ENSG00000130037.5	transcript	ENST00000252321.5	protein_coding		4132		chr12	TogoVar
KCNIP4_chr4_20723606_21953772	21757155	GAAAGAAA others(91): Show GAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	74	0.0135	-98	c.61+ others(117): Show c.61+191318_61+191415delTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCTTTCTTTCTTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21757175	GAAGGAAG others(91): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0023 a0001c0001t0015g0023	1	78	0.0128	-98	c.61+ others(117): Show c.61+191298_61+191395delTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC TTCCTTCCTTCCTTCCTTCCTT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KDELR1_chr19_48377575_48396551	48388657	TCTGGGCA others(91): Show TCTGGGCAACCGAGCGAGACTTTGTCGAAAGAGAAAGGAAAAAAGAAAGA AAGGAAGAAAAGGAAGAAAAGGAAGAAAGGAAGAAAGGAAGGAAAGAAG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0069 a0001c0001t0001g0070	2	430	0.0047	-98	c.351 others(113): Show c.351+798_351+895delCTTCTTTCCTTCCTTTCTTCCTTTCTTCCT TTTCTTCCTTTTCTTCCTTTCTTTCTTTTTTCCTTTCTCTTTCGACAAAG TCTCGCTCGGTTGCCCAG	KDELR1	ENSG00000105438.9	transcript	ENST00000330720.7	protein_coding	3/4			chr19	TogoVar
KIAA1958_chr9_112481827_112674397	112514950	TGCCCGGC others(91): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03098.hp2 HG02818.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0071 a0001c0001t0002 a0001c0002t0071	a0001c0001t0002g0121 a0001c0002t0071g0013 a0001c0001t0002g0121 a0001c0002t0071g0013	2	306	0.0065	-98	c.-25 others(117): Show c.-25+27872_-25+27969delTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGG	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF25_chr6_167992671_168050091	168013642	ACTGCAGG others(91): Show ACTGCAGGATTCCCCTGCTGTAAGGACTGTAGGTGTTTTCTGTGGGGGCT GGTGGGGATCTGCTGCTTCCCTTTCCCTGCAAGGGGAAGTCCCTTCTGC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02572.hp1 HG02723.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0014 a0001c0001 a0012c0014	a0001c0001t0010 a0012c0014t0010 a0001c0001t0010 a0012c0014t0010	a0001c0001t0010g0256 a0012c0014t0010g0255 a0001c0001t0010g0256 a0012c0014t0010g0255	2	374	0.0053	-98	c.-16 others(117): Show c.-162-4327_-162-4230delCAGGATTCCCCTGCTGTAAGGACTGT AGGTGTTTTCTGTGGGGGCTGGTGGGGATCTGCTGCTTCCCTTTCCCTGC AAGGGGAAGTCCCTTCTGCCTG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF4A_chrX_70285104_70425886	70373550	ATATATAC others(91): Show ATATATACGTATATATATACATATATACGTGTATATATATACGTATATAT ATACATATATACGTGTATATATATACGTATATATATACATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG04184.hp2 HG02165.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0245 a0001c0003t0001g0045 a0001c0001t0001g0245 a0001c0003t0001g0045	2	257	0.0078	-98	c.167 others(115): Show c.1675-594_1675-497delCGTATATATATACATATATACGTGTATA TATATACGTATATATATACATATATACGTGTATATATATACGTATATATA TACATATATACGTGTATATA	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KRT16_chr17_41604778_41617767	41614853	CTCTGAGA others(91): Show CTCTGAGAACTCTTCACTCTCTGCCCCCATCGTGTGTGCATGCACACACA CCCCTTTCTCATTGGCTCACTGCCCCCCACCAAGTTCCCCATTCCAGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	396	0.0025	-98	c.-22 others(109): Show c.-2263_-2166delTCCTGGAATGGGGAACTTGGTGGGGGGCAGTGAG CCAATGAGAAAGGGGTGTGTGTGCATGCACACACGATGGGGGCAGAGAGT GAAGAGTTCTCAGA	KRT16	ENSG00000186832.9	transcript	ENST00000301653.9	protein_coding		2087		chr17	TogoVar
KRTAP5-11_chr11_71576855_71587875	71577593	ACTCACAC others(91): Show ACTCACACACTCATACACACATTCTCACACTCACACACACTCACACACCT CTACACTGACTCACATGCATTCACACACTCATATACACATTCTCGCACT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01243.hp2 others(30): Show HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02148.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG06807.hp2 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0003 a0002c0004t0003 a0001c0001t0001 a0002c0002t0003 a0002c0004t0003	a0001c0001t0001g0000 a0002c0002t0003g0000 a0002c0004t0003g0000 a0001c0001t0001g0000 a0002c0002t0003g0000 a0002c0004t0003g0000	33	462	0.0714	-98	c.46 others(109): Show c.4676_*4773delAGTGCGAGAATGTGTATATGAGTGTGTGAATGCA TGTGAGTCAGTGTAGAGGTGTGTGAGTGTGTGTGAGTGTGAGAATGTGTG TATGAGTGTGTGAG	KRTAP5-11	ENSG00000204571.7	transcript	ENST00000398530.1	protein_coding		4261		chr11	TogoVar
KRTAP5-11_chr11_71576855_71587875	71584625	CCCCCCGC others(91): Show CCCCCCGCGATGCGGGGCATAAGAGCCAGCCCCGCCTGTCCCCCTGGCTC TTAGGACCCCCATCGCAGGGGGCGAGGTGCCCCCCGCGATGCGAGGCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03516.hp1 NA20300.hp1 HG02145.hp1 HG03516.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	3	455	0.0066	-98	c.-18 others(109): Show c.-1886_-1789delACGCCTCGCATCGCGGGGGGCACCTCGCCCCCTG CGATGGGGGTCCTAAGAGCCAGGGGGACAGGCGGGGCTGGCTCTTATGCC CCGCATCGCGGGGG	KRTAP5-11	ENSG00000204571.7	transcript	ENST00000398530.1	protein_coding		1751		chr11	TogoVar
LCN1_chr9_135516440_135531540	135527975	GTGCCTCG others(91): Show GTGCCTCGGGTCATAGACCTTGTGACCTCACAGGTGCGTCCTCCCCACTC TGCCTCATGTCACAGACCTTGTGACCTCACAGGTGCGTCCTCCCCACTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	434	0.0023	-98	c.16 others(109): Show c.1634_*1731delTGCCTCGGGTCATAGACCTTGTGACCTCACAGGT GCGTCCTCCCCACTCTGCCTCATGTCACAGACCTTGTGACCTCACAGGTG CGTCCTCCCCACTA	LCN1	ENSG00000160349.10	transcript	ENST00000371781.4	protein_coding		1436		chr9	TogoVar
LHFPL3_chr7_104323603_104913561	104817949	CCAATGTA others(91): Show CCAATGTAGTTGCACTAGCTACATTTCAAGTGCTCCATAGGTACACGTGA CTAGTGTCTACCGTATTGGACAGCACAGATACAGAACATTTCCGTCACA	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0023	1	86	0.0116	-98	c.682 others(117): Show c.682+81042_682+81139delTGTAGTTGCACTAGCTACATTTCAAG TGCTCCATAGGTACACGTGACTAGTGTCTACCGTATTGGACAGCACAGAT ACAGAACATTTCCGTCACACAA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124507352	TGTGGAGG others(91): Show TGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGT GGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGG	T T	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	254	0.0039	-98	c.624 others(115): Show c.624+9225_624+9322delGTGGAGGGTAGACAGGATTTCAGGTGGG GGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LOC400499_chr16_11367015_11532247	11493939	GGGGGCGG others(91): Show GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGG CAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02280.hp2 HG02486.hp2 others(4): Show HG00639.hp1 HG02280.hp2 HG02486.hp2 HG02717.hp2 HG03225.hp2 HG03942.hp1 NA18947.hp2	a0048 a0109 a0115 others(4): Show a0048 a0109 a0115 a0130 a0160 a0187 a0206	a0048c0238 a0109c0123 a0115c0046 others(4): Show a0048c0238 a0109c0123 a0115c0046 a0130c0124 a0160c0234 a0187c0134 a0206c0261	a0048c0238t0005 a0109c0123t0004 a0115c0046t0002 others(4): Show a0048c0238t0005 a0109c0123t0004 a0115c0046t0002 a0130c0124t0004 a0160c0234t0004 a0187c0134t0002 a0206c0261t0003	a0048c0238t0005g0069 a0109c0123t0004g0166 a0115c0046t0002g0295 others(4): Show a0048c0238t0005g0069 a0109c0123t0004g0166 a0115c0046t0002g0295 a0130c0124t0004g0013 a0160c0234t0004g0195 a0187c0134t0002g0090 a0206c0261t0003g0124	7	308	0.0227	-98	c.143 others(115): Show c.1432-241_1432-144delACGCCACTGCCCCGCCCCCCACGCCACT GCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCC CCACGCCACTGCCCCGCCCC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LONRF3_chrX_118969618_119023355	118969808	GCTAACTT others(91): Show GCTAACTTTCCTTCCTTCCTTCCTTCCTTTTCTTTCCTTTTTTTTTTTTT TTTTTTTTTTTTGAAACAGAGTCTTGCTTTGTCGCCCAGGCTGGAGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	307	0.0033	-98	c.-49 others(109): Show c.-4972_-4875delCTAACTTTCCTTCCTTCCTTCCTTCCTTTTCTTT CCTTTTTTTTTTTTTTTTTTTTTTTTTGAAACAGAGTCTTGCTTTGTCGC CCAGGCTGGAGTGC	LONRF3	ENSG00000175556.17	transcript	ENST00000371628.8	protein_coding		4809		chrX	TogoVar
LRBA_chr4_150259435_151020284	150639736	AATATATA others(91): Show AATATATATATATATATATATATATATATATATATATATATATATATGTG TGTGTGTATATATATATATATGTGTGTGTGTGTGTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0123 a0001c0019t0001g0123	1	173	0.0058	-98	c.592 others(119): Show c.5922-40703_5922-40606delATATATATATATATACACACACAC ACACATATATATATATATACACACACACATATATATATATATATATATAT ATATATATATATATATATATATAT	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRFN5_chr14_41601876_41909549	41673776	GGGGCGGC others(91): Show GGGGCGGCTGGCCGGGCGGGGGGTGACCCCCCCCACCTCATTCCCGGATG GGGCAGATGGCCGGGCGGGGGGCTGAACCCCCTACCTCCCTCCCAGACA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02523.hp2 HG00621.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0269 a0001c0001t0010g0270 a0001c0001t0010g0269 a0001c0001t0010g0270	2	278	0.0072	-98	c.-19 others(119): Show c.-197+65227_-197+65324delGGGCGGGGGGTGACCCCCCCCACC TCATTCCCGGATGGGGCAGATGGCCGGGCGGGGGGCTGAACCCCCTACCT CCCTCCCAGACAGGGCGGCTGGCC	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRFN5_chr14_41601876_41909549	41674513	TCCACCTC others(91): Show TCCACCTCTCTCCAGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC CCACCTCTCTCCAGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02523.hp2 HG00621.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0269 a0001c0001t0010g0270 a0001c0001t0010g0269 a0001c0001t0010g0270	2	274	0.0073	-98	c.-19 others(119): Show c.-197+65959_-197+66056delTCTCCAGGACGGGGCGGCTGGCCG GGCAGGGGGCTGACCCCCCCACCTCTCTCCAGGACGGGGCGGCTGGCCGG GCAGGGGGCTGACCCCCCCACCTC	LRFN5	ENSG00000165379.14	transcript	ENST00000298119.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
LRP2_chr2_169122109_169367534	169327105	CGGCCAGC others(91): Show CGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0008 a0008	a0008c0107 a0008c0107	a0008c0107t0003 a0008c0107t0003	a0008c0107t0003g0115 a0008c0107t0003g0115	1	248	0.0040	-98	c.80- others(113): Show c.80-6319_80-6222delAGGCGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGATGGGGCGGCTGGCC	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169328201	GCCCCGCC others(91): Show GCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCG CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0006 a0001c0005t0002g0006	1	248	0.0040	-98	c.80- others(113): Show c.80-7415_80-7318delGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGG	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRP2_chr2_169122109_169367534	169328216	CCGCCCCG others(91): Show CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCGCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01099.hp2 others(1): Show HG00099.hp1 HG00738.hp2 HG01099.hp2 HG03704.hp1	a0002 a0006 a0002 a0006	a0002c0036 a0002c0166 a0006c0032 a0002c0036 a0002c0166 a0006c0032	a0002c0036t0001 a0002c0166t0014 a0006c0032t0008 a0002c0036t0001 a0002c0166t0014 a0006c0032t0008	a0002c0036t0001g0120 a0002c0036t0001g0121 a0002c0166t0014g0122 others(1): Show a0002c0036t0001g0120 a0002c0036t0001g0121 a0002c0166t0014g0122 a0006c0032t0008g0088	4	248	0.0161	-98	c.80- others(113): Show c.80-7430_80-7333delTCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCACC TCCCTCCCGGACGGGGCG	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
LRRC4C_chr11_40109209_41464652	41304775	GTCAGCCC others(91): Show GTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGTA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp1 HG03139.hp2 others(2): Show HG02280.hp2 HG02717.hp1 HG03139.hp2 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0002g0016 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0002g0016 a0001c0002t0001g0030 a0001c0002t0001g0045	5	48	0.1042	-98	c.-49 others(121): Show c.-496+154558_-496+154655delTACCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGA	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	1/6			chr11	TogoVar
LRRK2_chr12_40219997_40374285	40247650	GTATATAA others(91): Show GTATATAAATATACAAATATAAATATATACATTTATATATAAATATACAT ATTTATACACAGATGTATATAAATATACAAATATAAATATATACATTTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(94): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG01243.hp2 HG01256.hp1 HG01358.hp2 HG01516.hp1 HG01928.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02165.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02895.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp2 NA18948.hp2 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18974.hp1 NA18978.hp2 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19030.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011 a0013 a0019 a0030 a0031	a0001c0008 a0002c0001 a0002c0009 others(12): Show a0001c0008 a0002c0001 a0002c0009 a0002c0040 a0002c0047 a0003c0004 a0003c0043 a0004c0045 a0005c0007 a0010c0019 a0011c0018 a0013c0023 a0019c0024 a0030c0038 a0031c0044	a0001c0008t0002 a0002c0001t0001 a0002c0001t0004 others(19): Show a0001c0008t0002 a0002c0001t0001 a0002c0001t0004 a0002c0001t0018 a0002c0009t0001 a0002c0040t0001 a0002c0047t0001 a0003c0004t0001 a0003c0004t0004 a0003c0043t0001 a0004c0045t0001 a0005c0007t0002 a0005c0007t0003 a0005c0007t0017 a0010c0019t0001 a0010c0019t0013 a0011c0018t0003 a0011c0018t0012 a0013c0023t0001 a0019c0024t0001 a0030c0038t0001 a0031c0044t0001	a0001c0008t0002g0132 a0002c0001t0001g0004 a0002c0001t0001g0005 others(94): Show a0001c0008t0002g0132 a0002c0001t0001g0004 a0002c0001t0001g0005 a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0008 a0002c0001t0001g0009 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0012 a0002c0001t0001g0029 a0002c0001t0001g0030 a0002c0001t0001g0033 a0002c0001t0001g0034 a0002c0001t0001g0035 a0002c0001t0001g0041 a0002c0001t0001g0044 a0002c0001t0001g0046 a0002c0001t0001g0051 a0002c0001t0001g0055 a0002c0001t0001g0056 a0002c0001t0001g0057 a0002c0001t0001g0058 a0002c0001t0001g0059 a0002c0001t0001g0061 a0002c0001t0001g0062 a0002c0001t0001g0063 a0002c0001t0001g0064 a0002c0001t0001g0069 a0002c0001t0001g0071 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0081 a0002c0001t0001g0082 a0002c0001t0001g0086 a0002c0001t0001g0087 a0002c0001t0001g0091 a0002c0001t0001g0092 a0002c0001t0001g0093 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0107 a0002c0001t0001g0108 a0002c0001t0001g0111 a0002c0001t0001g0112 a0002c0001t0001g0113 a0002c0001t0001g0126 a0002c0001t0001g0127 a0002c0001t0001g0130 a0002c0001t0001g0131 a0002c0001t0001g0137 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0140 a0002c0001t0001g0163 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0257 a0002c0001t0001g0334 a0002c0001t0001g0375 a0002c0001t0004g0160 a0002c0001t0018g0031 a0002c0009t0001g0047 a0002c0009t0001g0143 a0002c0040t0001g0114 a0002c0047t0001g0094 a0003c0004t0001g0003 a0003c0004t0004g0036 a0003c0004t0004g0125 a0003c0043t0001g0099 a0004c0045t0001g0129 a0005c0007t0002g0052 a0005c0007t0003g0042 a0005c0007t0003g0043 a0005c0007t0003g0065 a0005c0007t0003g0066 a0005c0007t0003g0075 a0005c0007t0003g0080 a0005c0007t0003g0133 a0005c0007t0017g0089 a0010c0019t0001g0038 a0010c0019t0001g0039 a0010c0019t0013g0323 a0011c0018t0003g0076 a0011c0018t0012g0077 a0011c0018t0012g0078 a0013c0023t0001g0079 a0013c0023t0001g0090 a0019c0024t0001g0136 a0030c0038t0001g0135 a0031c0044t0001g0122	97	339	0.2861	-98	c.839 others(115): Show c.839-2161_839-2064delAATATAAATATATACATTTATATATAAA TATACATATTTATACACAGATGTATATAAATATACAAATATAAATATATA CATTTATATATAAATATACA	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50		INFO_REALIGN_3_PRIME	chr12	TogoVar
LUZP2_chr11_24492053_25087638	25030897	ATATATAT others(91): Show ATATATATAATATATATTGTATTATATATATATAATATATATTATATATA TTATATATATAATACAATATATATTATATATATATAATACAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG01106.hp1 others(36): Show HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01256.hp2 HG01516.hp1 HG01891.hp1 HG01943.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02683.hp2 HG02717.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0006 a0001c0001 a0004c0005 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0016 a0001c0001t0034 a0001c0001t0038 a0004c0005t0002 a0005c0006t0029	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0016 others(36): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0113 a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0095 a0001c0001t0003g0114 a0001c0001t0004g0105 a0001c0001t0005g0006 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0049 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0006g0051 a0001c0001t0006g0086 a0001c0001t0007g0035 a0001c0001t0007g0047 a0001c0001t0007g0115 a0001c0001t0012g0082 a0001c0001t0012g0107 a0001c0001t0016g0033 a0001c0001t0016g0088 a0001c0001t0034g0053 a0001c0001t0038g0034 a0004c0005t0002g0087 a0005c0006t0029g0058	39	116	0.3362	-98	c.766 others(117): Show c.766-19132_766-19035delATATATATTGTATTATATATATATAA TATATATTATATATATTATATATATAATACAATATATATTATATATATAT AATACAATATATATTATATATA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MAD1L1_chr7_1810795_2237945	2113040	CGACGAGG others(91): Show CGACGAGGGGCAGAGCCTCCCTCAGCAAAGCGTCCCACTCAGGAAACGGG GACGAGGGGCAGAGCCTCCCTCAGCAAAGCGTCCCACTCAGGAAACGGG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01069.hp1 others(6): Show HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG02523.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0163 a0001c0004t0001g0092 a0001c0004t0001g0093 others(6): Show a0001c0001t0001g0163 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0099 a0001c0004t0001g0100 a0001c0004t0001g0205	9	255	0.0353	-98	c.107 others(119): Show c.1073+36014_1073+36111delCCCGTTTCCTGAGTGGGACGCTTT GCTGAGGGAGGCTCTGCCCCTCGTCCCCGTTTCCTGAGTGGGACGCTTTG CTGAGGGAGGCTCTGCCCCTCGTC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18			chr7	TogoVar

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