Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HSPA4_chr5_133047013_133111449	133106499	GTGTGTGT others(13): Show GTGTGTGTATGTGTGTGTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 NA19082.hp1 HG03225.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0002t0002 a0001c0001t0035 a0001c0002t0002	a0001c0001t0035g0318 a0001c0002t0002g0028 a0001c0001t0035g0318 a0001c0002t0002g0028	2	364	0.0055	-20	c.20 others(31): Show c.2064_*2083delTGTGTGTATGTGTGTGTGTC	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding		51		chr5	TogoVar
HSPA6_chr1_161519540_161531894	161524454	GGTGCGGA others(13): Show GGTGCGGAAAGGTTCGCGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0005 a0005c0018t0005	a0005c0018t0005g0000 a0005c0018t0005g0000	1	456	0.0022	-20	c.-20 others(29): Show c.-204_-185delGTGCGGAAAGGTTCGCGAAA	HSPA6	ENSG00000173110.8	transcript	ENST00000309758.6	protein_coding		85		chr1	TogoVar
HSPBAP1_chr3_122734999_122798831	122771671	TACTGCCA others(13): Show TACTGCCAACTGAGATACAAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0149 a0001c0009t0002g0149	1	350	0.0029	-20	c.251 others(37): Show c.251-2809_251-2790delGTTGTATCTCAGTTGGCAGT	HSPBAP1	ENSG00000169087.11	transcript	ENST00000306103.3	protein_coding	2/7			chr3	TogoVar
HSPE1_chr2_197495379_197508449	197505646	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	406	0.0025	-20	c.23 others(31): Show c.2388_*2407delTGTGTATATATATATATATA	HSPE1	ENSG00000115541.11	transcript	ENST00000233893.10	protein_coding		2198		chr2	TogoVar
HSPG2_chr1_21817244_21942310	21853751	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01515.hp1 HG01515.hp2 others(3): Show HG00738.hp1 HG01515.hp1 HG01515.hp2 HG03654.hp1 HG03942.hp1 NA20905.hp1	a0016 a0024 a0058 a0016 a0024 a0058	a0016c0019 a0024c0033 a0058c0109 a0016c0019 a0024c0033 a0058c0109	a0016c0019t0002 a0024c0033t0005 a0058c0109t0005 a0016c0019t0002 a0024c0033t0005 a0058c0109t0005	a0016c0019t0002g0240 a0016c0019t0002g0241 a0016c0019t0002g0255 others(3): Show a0016c0019t0002g0240 a0016c0019t0002g0241 a0016c0019t0002g0255 a0024c0033t0005g0134 a0024c0033t0005g0135 a0058c0109t0005g0283	6	310	0.0194	-20	c.643 others(37): Show c.6439+422_6439+441delATTTTATTTTATTTTATTTT	HSPG2	ENSG00000142798.20	transcript	ENST00000374695.8	protein_coding	50/96			chr1	TogoVar
HSPG2_chr1_21817244_21942310	21917437	GTAAATAA others(13): Show GTAAATAAATAAATAAATAAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00558.hp1 others(61): Show HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01884.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03834.hp1 HG04184.hp2 NA18522.hp2 NA18906.hp1 NA18943.hp2 NA18957.hp2 NA18967.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18985.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19030.hp2 NA19064.hp2 NA19067.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0009 a0010 a0011 a0014 a0019 a0021 a0033 a0041 a0048 a0051 a0053 a0055 a0059 a0060 a0068 a0075	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0122 a0001c0128 a0002c0017 a0002c0036 a0003c0104 a0003c0118 a0009c0120 a0010c0020 a0011c0007 a0014c0016 a0019c0094 a0021c0134 a0033c0087 a0041c0137 a0048c0097 a0051c0099 a0053c0096 a0055c0059 a0059c0110 a0060c0111 a0068c0108 a0075c0076	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(25): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0006t0001 a0001c0006t0009 a0001c0006t0010 a0001c0122t0001 a0001c0128t0001 a0002c0017t0002 a0002c0036t0002 a0003c0104t0002 a0003c0118t0002 a0009c0120t0001 a0010c0020t0002 a0011c0007t0002 a0014c0016t0002 a0019c0094t0001 a0021c0134t0002 a0033c0087t0001 a0041c0137t0002 a0048c0097t0001 a0051c0099t0002 a0053c0096t0002 a0055c0059t0002 a0059c0110t0001 a0060c0111t0001 a0068c0108t0004 a0075c0076t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 others(61): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0002t0001g0050 a0001c0002t0001g0065 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0023 a0001c0003t0001g0038 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0052 a0001c0003t0001g0054 a0001c0003t0001g0066 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0260 a0001c0006t0001g0041 a0001c0006t0001g0042 a0001c0006t0001g0055 a0001c0006t0001g0059 a0001c0006t0001g0215 a0001c0006t0009g0027 a0001c0006t0010g0040 a0001c0122t0001g0064 a0001c0128t0001g0075 a0002c0017t0002g0028 a0002c0036t0002g0060 a0003c0104t0002g0014 a0003c0118t0002g0035 a0009c0120t0001g0016 a0010c0020t0002g0032 a0010c0020t0002g0033 a0011c0007t0002g0025 a0011c0007t0002g0029 a0011c0007t0002g0049 a0011c0007t0002g0242 a0014c0016t0002g0057 a0014c0016t0002g0058 a0014c0016t0002g0063 a0019c0094t0001g0180 a0021c0134t0002g0030 a0033c0087t0001g0034 a0041c0137t0002g0062 a0048c0097t0001g0024 a0051c0099t0002g0031 a0053c0096t0002g0170 a0055c0059t0002g0069 a0059c0110t0001g0043 a0060c0111t0001g0039 a0068c0108t0004g0017 a0075c0076t0001g0056	64	310	0.2065	-20	c.63+ others(37): Show c.63+19698_63+19717delTTTATTTATTTATTTATTTA	HSPG2	ENSG00000142798.20	transcript	ENST00000374695.8	protein_coding	1/96			chr1	TogoVar
HTATIP2_chr11_20358714_20388782	20361320	TTATATAT others(13): Show TTATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG03041.hp2 NA19006.hp1 HG02809.hp2 HG03041.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0133 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0133	3	420	0.0071	-20	c.-29 others(31): Show c.-2917_-2898delTATATATATATATATATATA	HTATIP2	ENSG00000109854.14	transcript	ENST00000451739.7	protein_coding		2393		chr11	TogoVar
HTR1E_chr6_86932528_87021679	86958937	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	300	0.0033	-20	c.-18 others(41): Show c.-186+21141_-186+21160delGTGTGTGTGTGTGTGTGTGT	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
HTR1F_chr3_87787706_87998839	87859001	GCCTGGCC others(13): Show GCCTGGCCAACATGATGAAAC	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	250	0.0040	-20	c.-43 others(39): Show c.-43+36882_-43+36901delGCCAACATGATGAAACCCTG	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR2C_chrX_114579086_114915061	114641015	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0140 a0002c0002t0014g0140	1	176	0.0057	-20	c.-80 others(39): Show c.-80+27150_-80+27169delCCTTTCTTTCTTTCTTTCTT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114644362	AATATATA others(13): Show AATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02040.hp1 HG02922.hp2 HG01243.hp1 HG02040.hp1 HG02922.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0134 a0002c0002t0002g0037 a0002c0002t0002g0038 a0001c0001t0001g0134 a0002c0002t0002g0037 a0002c0002t0002g0038	3	176	0.0171	-20	c.-80 others(39): Show c.-80+30508_-80+30527delATATATATATATATATATAT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114698455	CACAAACA others(13): Show CACAAACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0162 a0001c0001t0001g0164	2	176	0.0114	-20	c.-79 others(39): Show c.-79-28399_-79-28380delAACACACACACACACAAACA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114764865	ATCTTTCT others(13): Show ATCTTTCTTTCTTTCTTTCTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0033	1	176	0.0057	-20	c.349 others(39): Show c.349+33300_349+33319delCTTTCTTTCTTTCTTTCTTT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114764917	TTCTTTCT others(13): Show TTCTTTCTTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp1 HG02055.hp1 others(10): Show HG00099.hp2 HG01099.hp1 HG02055.hp1 HG02071.hp1 HG02257.hp2 HG02630.hp1 HG02647.hp1 HG03139.hp1 HG03239.hp1 NA18747.hp1 NA18994.hp1 NA19012.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0017 a0002c0002t0005 a0002c0002t0012	a0001c0001t0001g0070 a0001c0001t0001g0146 a0001c0001t0001g0170 others(10): Show a0001c0001t0001g0070 a0001c0001t0001g0146 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0002g0017 a0001c0001t0002g0029 a0001c0001t0002g0040 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0009g0020 a0001c0001t0017g0112 a0002c0002t0005g0055 a0002c0002t0012g0003	13	176	0.0739	-20	c.349 others(39): Show c.349+33312_349+33331delCTTTCTTTTCCTTCCTTCCT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114807048	CCATATAT others(13): Show CCATATATACACCATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG04228.hp1 HG03490.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0095 a0001c0001t0001g0067 a0001c0001t0001g0095	2	176	0.0114	-20	c.350 others(39): Show c.350-40954_350-40935delCATATATACACCATATATAT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
HTR3D_chr3_184026742_184044369	184030003	ACCCAAAT others(13): Show ACCCAAATGTCCATCAATGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0103 a0002c0001t0001g0103	1	450	0.0022	-20	c.-17 others(31): Show c.-1738_-1719delCCCAAATGTCCATCAATGAT	HTR3D	ENSG00000186090.11	transcript	ENST00000428798.7	protein_coding		1738		chr3	TogoVar
HTR3D_chr3_184026742_184044369	184031286	GAAAGAAA others(13): Show GAAAGAAAGAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02559.hp1 HG03579.hp2 HG01891.hp1 HG02559.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0013	3	450	0.0067	-20	c.-45 others(29): Show c.-455_-436delAAAGAAAGAGAAAGAAAGAA	HTR3D	ENSG00000186090.11	transcript	ENST00000428798.7	protein_coding		455		chr3	TogoVar
HTR4_chr5_148476547_148659527	148540400	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	310	0.0032	-20	c.353 others(37): Show c.353+8248_353+8267delTATATATATATATATATATA	HTR4	ENSG00000164270.19	transcript	ENST00000377888.8	protein_coding	4/6			chr5	TogoVar
HTR4_chr5_148476547_148659527	148596783	CATCTTTC others(13): Show CATCTTTCATTCATTCTGCAT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	310	0.0032	-20	c.26+ others(37): Show c.26+40186_26+40205delATGCAGAATGAATGAAAGAT	HTR4	ENSG00000164270.19	transcript	ENST00000377888.8	protein_coding	2/6			chr5	TogoVar
HTRA3_chr4_8264754_8312098	8301234	ATTATTGA others(13): Show ATTATTGATTCACACTCAGCT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00544.hp1 others(121): Show HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18942.hp2 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18967.hp2 NA18971.hp1 NA18973.hp1 NA18979.hp2 NA18982.hp2 NA18990.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19062.hp2 NA19067.hp2 NA19081.hp2 NA19083.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0005 a0001c0011 others(2): Show a0001c0001 a0001c0005 a0001c0011 a0007c0010 a0009c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0005t0002 a0001c0011t0001 a0007c0010t0001 a0009c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(109): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0244 a0001c0001t0001g0264 a0001c0001t0001g0274 a0001c0001t0001g0279 a0001c0001t0001g0286 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0330 a0001c0001t0001g0340 a0001c0001t0001g0356 a0001c0001t0002g0012 a0001c0001t0002g0016 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0171 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0003g0036 a0001c0001t0003g0096 a0001c0001t0013g0174 a0001c0001t0014g0112 a0001c0001t0015g0205 a0001c0005t0002g0155 a0001c0011t0001g0048 a0007c0010t0001g0278 a0009c0008t0001g0111	124	388	0.3196	-20	c.105 others(39): Show c.1052-1211_1052-1192delGCTTTATTGATTCACACTCA	HTRA3	ENSG00000170801.10	transcript	ENST00000307358.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
HTT_chr4_3069681_3248957	3074604	GGCCGGCG others(13): Show GGCCGGCGTGGCCCCGCCTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0157 a0009c0008t0001g0157	1	294	0.0034	-20	c.-22 others(29): Show c.-221_-202delGCCGGCGTGGCCCCGCCTCC	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding		76		chr4	TogoVar
HTT_chr4_3069681_3248957	3074612	TGGCCCCG others(13): Show TGGCCCCGCCTCCGCCGGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0052 a0052	a0052c0061 a0052c0061	a0052c0061t0035 a0052c0061t0035	a0052c0061t0035g0252 a0052c0061t0035g0252	1	294	0.0034	-20	c.-21 others(29): Show c.-213_-194delGGCCCCGCCTCCGCCGGCGC	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding		68		chr4	TogoVar
HTT_chr4_3069681_3248957	3083530	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02559.hp1 HG02630.hp2	a0014 a0043 a0014 a0043	a0014c0014 a0043c0050 a0014c0014 a0043c0050	a0014c0014t0010 a0043c0050t0010 a0014c0014t0010 a0043c0050t0010	a0014c0014t0010g0011 a0043c0050t0010g0012 a0014c0014t0010g0011 a0043c0050t0010g0012	2	294	0.0068	-20	c.264 others(37): Show c.264-3371_264-3352delCACACACACACACACACACA	HTT	ENSG00000197386.14	transcript	ENST00000355072.11	protein_coding	1/66		INFO_REALIGN_3_PRIME	chr4	TogoVar
HUNK_chr21_31868020_32009064	31917691	AACATACA others(13): Show AACATACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02622.hp2 HG02886.hp1 others(2): Show HG01975.hp2 HG02622.hp2 HG02886.hp1 HG02896.hp2 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0012 a0001c0013 a0001c0007 a0001c0012 a0001c0013	a0001c0007t0005 a0001c0007t0006 a0001c0012t0067 others(1): Show a0001c0007t0005 a0001c0007t0006 a0001c0012t0067 a0001c0013t0029	a0001c0007t0005g0082 a0001c0007t0005g0083 a0001c0007t0006g0051 others(2): Show a0001c0007t0005g0082 a0001c0007t0005g0083 a0001c0007t0006g0051 a0001c0012t0067g0086 a0001c0013t0029g0084	5	328	0.0152	-20	c.262 others(37): Show c.262-6773_262-6754delTACACACACACACACACACA	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HUNK_chr21_31868020_32009064	31917695	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02647.hp1 others(9): Show HG01891.hp2 HG02055.hp1 HG02647.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0002t0006 a0001c0002t0017 others(4): Show a0001c0001t0001 a0001c0002t0006 a0001c0002t0017 a0001c0004t0008 a0001c0004t0011 a0001c0004t0055 a0001c0005t0015	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0032 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0076 a0001c0002t0006g0012 a0001c0002t0006g0027 a0001c0002t0006g0028 a0001c0002t0017g0155 a0001c0004t0008g0096 a0001c0004t0011g0047 a0001c0004t0055g0204 a0001c0005t0015g0006	12	328	0.0366	-20	c.262 others(37): Show c.262-6730_262-6711delACACACACACACACACACAC	HUNK	ENSG00000142149.9	transcript	ENST00000270112.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
HUWE1_chrX_53527096_53691719	53542845	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0166 a0001c0002t0002g0166	1	214	0.0047	-20	c.113 others(39): Show c.11380-326_11380-307delCACACACACACACACACACA	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding	73/83			chrX	TogoVar
HUWE1_chrX_53527096_53691719	53688966	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 NA18949.hp2 NA18957.hp1 others(2): Show HG01074.hp1 NA18949.hp2 NA18957.hp1 NA19007.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0001t0001 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0115 a0001c0002t0002g0133 a0001c0002t0002g0166 others(2): Show a0001c0001t0001g0115 a0001c0002t0002g0133 a0001c0002t0002g0166 a0001c0003t0002g0143 a0001c0003t0002g0144	5	214	0.0234	-20	c.-26 others(31): Show c.-2660_-2641delGAAAGAAAGAAAGAAAGAAA	HUWE1	ENSG00000086758.17	transcript	ENST00000262854.11	protein_coding		2248		chrX	TogoVar
HYAL4_chr7_123840169_123882481	123857669	GTTTCTTT others(13): Show GTTTCTTTCTTTCTTTCTTTC	G G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03490.hp1 NA18947.hp1 HG02165.hp1 HG03490.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	3	394	0.0076	-20	c.-52 others(37): Show c.-52+9556_-52+9575delTTTCTTTCTTTCTTTCTTTC	HYAL4	ENSG00000106302.10	transcript	ENST00000223026.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
HYCC1_chr7_22929211_23019130	22930375	TAAAAAGA others(13): Show TAAAAAGAAAAAGAAAAAGAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	386	0.0026	-20	c.15 others(33): Show c.15194_*15213delTTCTTTTTCTTTTTCTTTTT	HYCC1	ENSG00000122591.13	transcript	ENST00000432176.7	protein_coding		3835		chr7	TogoVar
HYCC2_chr2_200968718_201076671	201069543	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0138 a0001c0001t0006g0138	1	176	0.0057	-20	c.-12 others(39): Show c.-129+2047_-129+2066delGTGTGTGTGTGTGTGTGTGT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding	1/12			chr2	TogoVar
HYDIN_chr16_70797084_71235722	70826705	ATCTCTCT others(13): Show ATCTCTCTCTCTCTCTCTCTC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02559.hp2 HG02572.hp2 others(5): Show HG00738.hp1 HG02559.hp2 HG02572.hp2 HG02818.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 NA21309.hp1	a0005 a0013 a0024 others(1): Show a0005 a0013 a0024 a0042	a0005c0009 a0005c0020 a0013c0083 others(2): Show a0005c0009 a0005c0020 a0013c0083 a0024c0039 a0042c0088	a0005c0009t0011 a0005c0020t0006 a0013c0083t0006 others(2): Show a0005c0009t0011 a0005c0020t0006 a0013c0083t0006 a0024c0039t0011 a0042c0088t0006	a0005c0009t0011g0153 a0005c0009t0011g0156 a0005c0009t0011g0157 others(5): Show a0005c0009t0011g0153 a0005c0009t0011g0156 a0005c0009t0011g0157 a0005c0020t0006g0072 a0005c0020t0006g0074 a0013c0083t0006g0116 a0024c0039t0011g0152 a0042c0088t0006g0119	8	174	0.0460	-20	c.144 others(39): Show c.14427+536_14427+555delGAGAGAGAGAGAGAGAGAGA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	83/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70864330	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG01928.hp1 others(7): Show HG00642.hp1 HG00642.hp2 HG01928.hp1 HG01928.hp2 HG04184.hp1 NA18953.hp1 NA18969.hp1 NA19066.hp1 NA19066.hp2 NA20905.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0009 a0010	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0011 a0004c0032 a0009c0081 a0010c0035	a0001c0001t0001 a0001c0001t0025 a0001c0002t0019 others(5): Show a0001c0001t0001 a0001c0001t0025 a0001c0002t0019 a0002c0003t0003 a0002c0011t0004 a0004c0032t0021 a0009c0081t0001 a0010c0035t0001	a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0089 others(7): Show a0001c0001t0001g0065 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0025g0106 a0001c0002t0019g0015 a0002c0003t0003g0148 a0002c0011t0004g0090 a0004c0032t0021g0062 a0009c0081t0001g0110 a0010c0035t0001g0054	10	174	0.0575	-20	c.114 others(41): Show c.11472-1168_11472-1149delTTTTTTTTTTTTTTTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	67/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70901534	CATTAGTT others(13): Show CATTAGTTTGCTAAGGATAAT	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0001 a0011c0027t0001	a0011c0027t0001g0064 a0011c0027t0001g0064	1	174	0.0058	-20	c.885 others(37): Show c.8850-352_8850-333delATTATCCTTAGCAAACTAAT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
HYDIN_chr16_70797084_71235722	70904478	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02683.hp2 NA19090.hp1 HG01256.hp1 HG02683.hp2 NA19090.hp1	a0001 a0006 a0018 a0001 a0006 a0018	a0001c0072 a0006c0045 a0018c0029 a0001c0072 a0006c0045 a0018c0029	a0001c0072t0023 a0006c0045t0022 a0018c0029t0001 a0001c0072t0023 a0006c0045t0022 a0018c0029t0001	a0001c0072t0023g0022 a0006c0045t0022g0128 a0018c0029t0001g0047 a0001c0072t0023g0022 a0006c0045t0022g0128 a0018c0029t0001g0047	3	174	0.0172	-20	c.851 others(37): Show c.8517-434_8517-415delAAAAAAAAAAAAAAAAAAAA	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	50/85			chr16	TogoVar
IAH1_chr2_9469551_9494742	9487817	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03041.hp1 HG03130.hp2 HG01884.hp2 HG03041.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0012 a0001c0001t0022g0012	3	342	0.0088	-20	c.565 others(35): Show c.565-328_565-309delTGTGTGTGTGTGTGTGCGCG	IAH1	ENSG00000134330.19	transcript	ENST00000497473.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
IBA57_chr1_228160804_228187257	228182592	CTGGGGAC others(13): Show CTGGGGACGGGGTGTGTGCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01261.hp1 HG02080.hp2 others(10): Show HG00735.hp2 HG01261.hp1 HG02080.hp2 HG02145.hp2 HG02723.hp2 HG02895.hp1 HG02965.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp2 NA18951.hp2 NA19090.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 others(5): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0001t0021 a0001c0001t0045 a0001c0001t0057 a0001c0007t0048 a0002c0002t0003	a0001c0001t0005g0010 a0001c0001t0009g0023 a0001c0001t0016g0037 others(8): Show a0001c0001t0005g0010 a0001c0001t0009g0023 a0001c0001t0016g0037 a0001c0001t0016g0060 a0001c0001t0016g0183 a0001c0001t0021g0115 a0001c0001t0045g0079 a0001c0001t0045g0182 a0001c0001t0057g0204 a0001c0007t0048g0222 a0002c0002t0003g0128	13	416	0.0313	-20	c.70 others(31): Show c.7080_*7099delTGGGGACGGGGTGTGTGCGG	IBA57	ENSG00000181873.13	transcript	ENST00000366711.4	protein_coding		336		chr1	TogoVar
IBSP_chr4_87794554_87817435	87813979	CATATATA others(13): Show CATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG01255.hp2 others(15): Show HG00544.hp1 HG00609.hp2 HG01255.hp2 HG01496.hp2 HG02165.hp2 HG02630.hp1 HG02809.hp2 HG02965.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03579.hp2 NA18948.hp2 NA18974.hp1 NA18975.hp2 NA19075.hp1 NA19081.hp1 NA19090.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0007c0007	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0003c0003t0004 a0004c0004t0001 a0006c0006t0001 a0007c0007t0003	a0001c0001t0001g0001 a0001c0001t0001g0063 a0002c0002t0001g0002 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0063 a0002c0002t0001g0002 a0003c0003t0001g0008 a0003c0003t0004g0013 a0003c0003t0004g0050 a0004c0004t0001g0003 a0006c0006t0001g0015 a0007c0007t0003g0005	18	454	0.0397	-20	c.20 others(31): Show c.2070_*2089delATATATATATATATATATAT	IBSP	ENSG00000029559.7	transcript	ENST00000226284.7	protein_coding		1545		chr4	TogoVar
ICA1L_chr2_202768176_202876766	202839558	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp2 others(22): Show HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp2 HG01175.hp1 HG01192.hp2 HG02080.hp2 HG02132.hp1 HG02523.hp1 HG02630.hp1 HG02818.hp2 HG02895.hp1 HG03017.hp1 HG03041.hp2 HG03491.hp1 HG03492.hp1 HG03942.hp1 NA18906.hp2 NA18939.hp2 NA18970.hp2 NA18984.hp2 NA18986.hp2 NA19003.hp1 NA19083.hp1 NA19087.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0028 a0001c0001t0034 a0001c0001t0044 a0001c0001t0061 a0001c0001t0067 a0004c0005t0011	a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0186 others(22): Show a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0299 a0001c0001t0004g0122 a0001c0001t0005g0305 a0001c0001t0028g0211 a0001c0001t0034g0217 a0001c0001t0044g0292 a0001c0001t0061g0214 a0001c0001t0067g0016 a0004c0005t0011g0250	25	330	0.0758	-20	c.-7- others(37): Show c.-7-10562_-7-10543delCACACACACACACACACACA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICAM2_chr17_63997595_64025633	64014706	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG01516.hp1 others(20): Show HG00323.hp2 HG00408.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02040.hp2 HG02056.hp2 HG02280.hp2 HG02970.hp2 HG02976.hp2 HG03688.hp1 HG03834.hp2 HG04228.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18966.hp2 NA18982.hp2 NA18987.hp2 NA19084.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0043 others(19): Show a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0257 a0001c0001t0001g0258	23	392	0.0587	-20	c.-45 others(37): Show c.-45+5797_-45+5816delTCTTCCTTCCTTCCTTCCTT	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
ICAM2_chr17_63997595_64025633	64014710	GAAGGAAG others(13): Show GAAGGAAGGAAGGAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01928.hp1 HG02523.hp1 others(3): Show HG00558.hp1 HG01928.hp1 HG02523.hp1 NA18973.hp2 NA18978.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0249 a0001c0001t0001g0250 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0274	6	392	0.0153	-20	c.-45 others(37): Show c.-45+5793_-45+5812delTCTTTCTTCCTTCCTTCCTT	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
ICAM2_chr17_63997595_64025633	64014714	GAAGGAAG others(13): Show GAAGGAAGGAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG01074.hp1 others(6): Show HG00280.hp2 HG00544.hp1 HG01074.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG02145.hp2 HG04184.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0212 others(6): Show a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0212 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0264	9	392	0.0230	-20	c.-45 others(37): Show c.-45+5789_-45+5808delTCTTTCTTTCTTCCTTCCTT	ICAM2	ENSG00000108622.11	transcript	ENST00000579788.6	protein_coding	1/4			chr17	TogoVar
ICE1_chr5_5417677_5495220	5422619	AGGGGCGG others(13): Show AGGGGCGGGGCGAGCCAGGGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03041.hp2 HG02809.hp1 HG03041.hp2	a0005 a0009 a0005 a0009	a0005c0007 a0009c0014 a0005c0007 a0009c0014	a0005c0007t0001 a0009c0014t0004 a0005c0007t0001 a0009c0014t0004	a0005c0007t0001g0040 a0009c0014t0004g0038 a0005c0007t0001g0040 a0009c0014t0004g0038	2	364	0.0055	-20	c.-29 others(29): Show c.-296_-277delGGGGCGGGGCGAGCCAGGGC	ICE1	ENSG00000164151.12	transcript	ENST00000296564.9	protein_coding		57		chr5	TogoVar
ICE1_chr5_5417677_5495220	5492992	GGGAGGGA others(13): Show GGGAGGGAGGGAGGGAAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0008 a0018c0030t0008	a0018c0030t0008g0142 a0018c0030t0008g0142	1	364	0.0028	-20	c.36 others(31): Show c.3663_*3682delGGAGGGAGGGAGGGAAGGAA	ICE1	ENSG00000164151.12	transcript	ENST00000296564.9	protein_coding		2773		chr5	TogoVar
ICE2_chr15_60414609_60484142	60434520	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp1 others(57): Show HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01257.hp2 HG01884.hp2 HG01928.hp1 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02273.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG03491.hp1 HG03516.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 NA18747.hp1 NA18942.hp1 NA18949.hp1 NA18949.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18977.hp1 NA18983.hp2 NA18991.hp1 NA18992.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19062.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0010 a0001 a0007 a0010	a0001c0002 a0001c0009 a0007c0012 others(1): Show a0001c0002 a0001c0009 a0007c0012 a0010c0014	a0001c0002t0001 a0001c0002t0012 a0001c0002t0020 others(6): Show a0001c0002t0001 a0001c0002t0012 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0002t0024 a0001c0009t0001 a0007c0012t0001 a0010c0014t0012	a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0021 others(55): Show a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0021 a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0034 a0001c0002t0001g0053 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0075 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0113 a0001c0002t0001g0118 a0001c0002t0001g0123 a0001c0002t0001g0128 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0012g0085 a0001c0002t0012g0127 a0001c0002t0020g0084 a0001c0002t0021g0020 a0001c0002t0023g0060 a0001c0002t0024g0019 a0001c0009t0001g0074 a0007c0012t0001g0166 a0010c0014t0012g0098	60	270	0.2222	-20	c.251 others(39): Show c.2510+1603_2510+1622delGTGTGTGTGTGTGTGTGTGT	ICE2	ENSG00000128915.12	transcript	ENST00000261520.9	protein_coding	13/15			chr15	TogoVar
ICMT_chr1_6216193_6240964	6229783	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01192.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01192.hp2 HG01884.hp1 HG02258.hp2 HG02698.hp2 HG02717.hp2 HG03453.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG04184.hp2 NA18946.hp1 NA18962.hp2 NA18973.hp1 NA18998.hp1 NA19060.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0049 a0001c0001t0004 a0001c0001t0049	a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0004g0049 others(6): Show a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0004g0049 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0049g0190	19	352	0.0540	-20	c.672 others(37): Show c.672+2099_672+2118delGTGTGTGTGTGTGTGTGTGT	ICMT	ENSG00000116237.16	transcript	ENST00000343813.10	protein_coding	4/4			chr1	TogoVar
IDE_chr10_92446684_92579093	92564671	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	314	0.0032	-20	c.98+ others(35): Show c.98+9231_98+9250delTTTTTTTTTTTTTTTTTTTT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	1/24			chr10	TogoVar
IDNK_chr9_83618143_83649123	83646679	GGGAAGGA others(13): Show GGGAAGGAAGGAAGGAAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01258.hp2 HG02280.hp1 others(3): Show HG01192.hp1 HG01258.hp2 HG02280.hp1 HG02723.hp1 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0074 a0001c0001t0001g0075 others(2): Show a0001c0001t0001g0038 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0193 a0001c0001t0001g0198	6	332	0.0181	-20	c.29 others(31): Show c.2900_*2919delGGAAGGAAGGAAGGAAGGAA	IDNK	ENSG00000148057.16	transcript	ENST00000376419.5	protein_coding		2557		chr9	TogoVar
IDO1_chr8_39908891_39933790	39910696	ATTTATTT others(13): Show ATTTATTTTATTTTATTTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(73): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02148.hp1 HG02622.hp2 HG02647.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG04228.hp2 HG06807.hp1 NA18949.hp2 NA18955.hp1 NA18968.hp2 NA18975.hp2 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp2 NA18993.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19054.hp2 NA19065.hp2 NA19068.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0077 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0187 a0001c0001t0002g0003 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0149 a0001c0001t0002g0164 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0003g0151 a0001c0007t0001g0011	76	422	0.1801	-20	c.-32 others(31): Show c.-3226_-3207delTTTATTTTATTTTATTTTAT	IDO1	ENSG00000131203.13	transcript	ENST00000518237.6	protein_coding		3194		chr8	TogoVar
IDO2_chr8_39929651_40021392	39986671	GAGATAGA others(13): Show GAGATAGATAGATAGATAGAT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0126 a0001c0001t0012g0126	1	360	0.0028	-20	c.450 others(37): Show c.450-1172_450-1153delTAGATAGATAGATAGATAGA	IDO2	ENSG00000188676.15	transcript	ENST00000502986.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
IDUA_chr4_982044_1009564	998716	ACTCCAAG others(13): Show ACTCCAAGCTCATCCACCCGC	A A	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0118 a0001c0012t0001g0118	1	426	0.0024	-20	c.300 others(37): Show c.300-1893_300-1874delCCAAGCTCATCCACCCGCCT	IDUA	ENSG00000127415.13	transcript	ENST00000514224.2	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar

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