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
GOLGB1_chr3_121658201_121754741	121745293	TACGTGTA others(45): Show TACGTGTATGTATATATACATATGTACACGTGTATGTATATATACATATG TAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02622.hp1 others(5): Show HG01891.hp1 HG02109.hp1 HG02622.hp1 HG02970.hp2 HG03225.hp2 HG03453.hp1 NA18943.hp1 NA18990.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0007c0009	a0001c0001t0006 a0002c0003t0002 a0003c0004t0001 others(1): Show a0001c0001t0006 a0002c0003t0002 a0003c0004t0001 a0007c0009t0002	a0001c0001t0006g0010 a0001c0001t0006g0011 a0002c0003t0002g0264 others(5): Show a0001c0001t0006g0010 a0001c0001t0006g0011 a0002c0003t0002g0264 a0003c0004t0001g0152 a0007c0009t0002g0258 a0007c0009t0002g0262 a0007c0009t0002g0263 a0007c0009t0002g0265	8	223	0.0359	-52	c.-3+ others(67): Show c.-3+4287_-3+4338delGTACATATGTATATATACATACACGTGTAC ATATGTATATATACATACACGT	GOLGB1	ENSG00000173230.17	transcript	ENST00000614479.5	protein_coding	1/21			chr3	TogoVar
GON4L_chr1_155744659_155862214	155809739	CTTATATA others(45): Show CTTATATATACTTATAAATTATATACTTATATATAATTATAAATTATATA CTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG01884.hp2 others(7): Show HG01099.hp1 HG01884.hp1 HG01884.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03516.hp1 HG03540.hp1 HG03927.hp2 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0023 a0002c0002 others(1): Show a0001c0003 a0001c0023 a0002c0002 a0002c0005	a0001c0003t0001 a0001c0023t0001 a0002c0002t0001 others(1): Show a0001c0003t0001 a0001c0023t0001 a0002c0002t0001 a0002c0005t0001	a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0206 others(7): Show a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 a0001c0023t0001g0021 a0002c0002t0001g0095 a0002c0002t0001g0105 a0002c0002t0001g0130 a0002c0005t0001g0150	10	199	0.0503	-52	c.145 others(71): Show c.1452+3843_1452+3894delAAGTATATAATTTATAATTATATATA AGTATATAATTTATAAGTATATATAA	GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31			chr1	TogoVar
GON4L_chr1_155744659_155862214	155809814	CTTATATA others(45): Show CTTATATATAATTATAAATTATATACTTATATATAATTATAAATTATATA CTT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	62	0.0161	-52	c.145 others(71): Show c.1452+3768_1452+3819delAAGTATATAATTTATAATTATATATA AGTATATAATTTATAATTATATATAA	GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31			chr1	TogoVar
GON4L_chr1_155744659_155862214	155809839	CTTATATA others(45): Show CTTATATATAATTATAAATTATATACTTATATATAATTATAAATTATATA CAT	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19009.hp1 NA18939.hp2 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0136 a0002c0002t0001g0120 a0002c0002t0001g0136	2	50	0.0400	-52	c.145 others(71): Show c.1452+3743_1452+3794delATGTATATAATTTATAATTATATATA AGTATATAATTTATAATTATATATAA	GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31			chr1	TogoVar
GP6_chr19_55008705_55043264	55027016	TACGGCCC others(45): Show TACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCC CAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	440	0.0023	-52	c.610 others(67): Show c.610+510_610+561delGTGGGAAGGAAGTGGGAGGGCAGGAAGCCC TGGGCTGCAGGGGCGGGGCCGT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	4/7			chr19	TogoVar
GPAT2_chr2_96016946_96039916	96038351	CAGTGGTA others(45): Show CAGTGGTACTCTTTGTTTCCACTTATTCCAACTCAAGTATGCATAAGCCA AAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	420	0.0024	-52	c.-36 others(63): Show c.-3611_-3560delTTTTGGCTTATGCATACTTGAGTTGGAATAAGTG GAAACAAAGAGTACCACT	GPAT2	ENSG00000186281.13	transcript	ENST00000434632.6	protein_coding		3436		chr2	TogoVar
GPC5_chr13_91393621_92872237	91586513	TATATATA others(45): Show TATATATATATATATATATATATATATATATATATATATATATATATATG TAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	42	0.0238	-52	c.326 others(73): Show c.326-106672_326-106621delTATATATATATATATATATATATA TATATATATATATATATATATATGTAGA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93640739	CCTCCCCA others(45): Show CCTCCCCACTTTCCTTCCCTCCCTCCTCCCCACTTTCCTTCCCTCCCTCC CTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01074.hp1 HG01167.hp2 others(16): Show HG00558.hp1 HG01074.hp1 HG01167.hp2 HG01496.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02258.hp2 HG02615.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03225.hp2 HG04228.hp1 NA19012.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0029 a0001c0001t0034 a0001c0001t0036 a0001c0003t0011 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0028 a0002c0002t0033	a0001c0001t0001g0072 a0001c0001t0002g0010 a0001c0001t0002g0047 others(16): Show a0001c0001t0001g0072 a0001c0001t0002g0010 a0001c0001t0002g0047 a0001c0001t0003g0064 a0001c0001t0004g0033 a0001c0001t0006g0026 a0001c0001t0009g0013 a0001c0001t0012g0003 a0001c0001t0013g0050 a0001c0001t0015g0036 a0001c0001t0029g0007 a0001c0001t0034g0076 a0001c0001t0036g0001 a0001c0003t0011g0020 a0002c0002t0002g0045 a0002c0002t0003g0016 a0002c0002t0008g0024 a0002c0002t0028g0004 a0002c0002t0033g0041	19	76	0.2500	-52	c.319 others(71): Show c.319+95320_319+95371delTCCCCACTTTCCTTCCCTCCCTCCTC CCCACTTTCCTTCCCTCCCTCCCTTC	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR39_chr2_132411805_132651582	132492613	TCTATATA others(45): Show TCTATATATACAATATATATACACACCATCTATATATAATATATATACAC ACC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp2 HG01884.hp2 HG02723.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0003 a0002c0002t0001 a0003c0004t0003	a0002c0002t0001g0027 a0003c0004t0003g0197 a0002c0002t0001g0027 a0003c0004t0003g0197	2	208	0.0096	-52	c.856 others(71): Show c.856+74716_856+74767delCTATATATACAATATATATACACACC ATCTATATATAATATATATACACACC	GPR39	ENSG00000183840.8	transcript	ENST00000329321.4	protein_coding	1/1			chr2	TogoVar
GPR87_chr3_151289086_151321820	151293586	CACACACA others(45): Show CACACACACACACACACACACACACACACACACGGTCCTAAAATGAAGCC CTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA19004.hp2 NA19010.hp1 NA18968.hp2 NA19004.hp2 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0117 a0001c0002t0001g0031 a0001c0002t0001g0117	3	444	0.0068	-52	c.53 others(61): Show c.531_*582delAAGGGCTTCATTTTAGGACCGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	GPR87	ENSG00000138271.6	transcript	ENST00000260843.5	protein_coding		499		chr3	TogoVar
GPSM1_chr9_136322539_136364601	136334733	GGCCCTGC others(45): Show GGCCCTGCTGGTGGGTGAGTGGGGCGGCCCTGCTGGCGCGGTGAGTGGGG ACA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01169.hp1 others(10): Show HG00735.hp1 HG01167.hp1 HG01169.hp1 HG01884.hp1 HG02280.hp2 HG02451.hp2 HG02717.hp1 HG02965.hp2 HG03041.hp1 HG03540.hp2 NA18906.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0031 a0002c0002 others(1): Show a0001c0005 a0001c0031 a0002c0002 a0002c0015	a0001c0005t0005 a0001c0031t0008 a0002c0002t0002 others(1): Show a0001c0005t0005 a0001c0031t0008 a0002c0002t0002 a0002c0015t0008	a0001c0005t0005g0075 a0001c0005t0005g0076 a0001c0005t0005g0077 others(10): Show a0001c0005t0005g0075 a0001c0005t0005g0076 a0001c0005t0005g0077 a0001c0005t0005g0078 a0001c0005t0005g0079 a0001c0005t0005g0080 a0001c0005t0005g0083 a0001c0005t0005g0084 a0001c0005t0005g0085 a0001c0031t0008g0081 a0002c0002t0002g0306 a0002c0015t0008g0082 a0002c0015t0008g0086	13	398	0.0327	-52	c.290 others(66): Show c.290+89_290+140delCGGCCCTGCTGGCGCGGTGAGTGGGGACAGC CCTGCTGGTGGGTGAGTGGGG	GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
GPX5_chr6_28520881_28539955	28528795	GTATATAT others(45): Show GTATATATATATATGTGTGTATATATATATATATATATATATATATATAT ATA	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	405	0.0025	-52	c.88- others(65): Show c.88-642_88-591delGTGTGTATATATATATATATATATATATATAT ATATATATATATATATATAT	GPX5	ENSG00000224586.7	transcript	ENST00000412168.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GREB1_chr2_11529045_11647788	11538609	GTTTCTTT others(45): Show GTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(158): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02922.hp1 HG03017.hp2 HG03130.hp2 HG03239.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(28): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0013 a0015 a0020 a0021 a0022 a0027 a0029 a0031 a0032 a0040 a0041 a0042 a0044 a0046 a0047 a0048 a0049 a0050 a0051 a0053 a0055	a0001c0001 a0001c0013 a0001c0089 others(46): Show a0001c0001 a0001c0013 a0001c0089 a0002c0005 a0002c0007 a0002c0011 a0002c0020 a0003c0003 a0003c0009 a0004c0004 a0004c0025 a0004c0026 a0004c0082 a0004c0088 a0005c0002 a0006c0014 a0006c0027 a0006c0033 a0006c0065 a0006c0097 a0006c0098 a0007c0006 a0007c0060 a0009c0019 a0009c0028 a0011c0010 a0012c0008 a0013c0018 a0013c0052 a0015c0024 a0020c0039 a0021c0094 a0022c0083 a0027c0091 a0029c0080 a0031c0051 a0032c0085 a0040c0050 a0041c0090 a0042c0093 a0044c0092 a0046c0087 a0047c0081 a0048c0077 a0049c0095 a0050c0078 a0051c0096 a0053c0079 a0055c0086	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(87): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018 a0001c0001t0032 a0001c0001t0068 a0001c0001t0071 a0001c0001t0072 a0001c0013t0002 a0001c0013t0006 a0001c0013t0011 a0001c0089t0002 a0002c0005t0001 a0002c0005t0005 a0002c0005t0006 a0002c0005t0007 a0002c0005t0011 a0002c0005t0051 a0002c0007t0020 a0002c0007t0052 a0002c0011t0001 a0002c0011t0002 a0002c0011t0009 a0002c0020t0026 a0003c0003t0002 a0003c0003t0005 a0003c0003t0006 a0003c0003t0030 a0003c0003t0056 a0003c0009t0021 a0004c0004t0002 a0004c0004t0004 a0004c0004t0008 a0004c0004t0011 a0004c0004t0014 a0004c0004t0025 a0004c0025t0008 a0004c0026t0004 a0004c0026t0012 a0004c0026t0014 a0004c0082t0002 a0004c0088t0025 a0005c0002t0014 a0005c0002t0070 a0006c0014t0003 a0006c0014t0005 a0006c0027t0003 a0006c0027t0004 a0006c0027t0009 a0006c0033t0034 a0006c0065t0033 a0006c0097t0012 a0006c0098t0067 a0007c0006t0017 a0007c0060t0060 a0009c0019t0073 a0009c0028t0003 a0009c0028t0020 a0011c0010t0002 a0011c0010t0006 a0012c0008t0003 a0013c0018t0047 a0013c0052t0049 a0015c0024t0008 a0015c0024t0014 a0015c0024t0025 a0020c0039t0004 a0020c0039t0009 a0021c0094t0001 a0022c0083t0008 a0027c0091t0002 a0029c0080t0018 a0031c0051t0042 a0032c0085t0011 a0040c0050t0006 a0041c0090t0014 a0042c0093t0002 a0044c0092t0018 a0046c0087t0004 a0047c0081t0002 a0048c0077t0002 a0049c0095t0003 a0050c0078t0011 a0051c0096t0005 a0053c0079t0004 a0055c0086t0008	a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0002g0032 others(158): Show a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0002g0032 a0001c0001t0002g0182 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0212 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0234 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0004g0175 a0001c0001t0004g0188 a0001c0001t0004g0217 a0001c0001t0004g0291 a0001c0001t0005g0055 a0001c0001t0006g0180 a0001c0001t0006g0223 a0001c0001t0006g0226 a0001c0001t0006g0228 a0001c0001t0006g0243 a0001c0001t0006g0279 a0001c0001t0006g0294 a0001c0001t0007g0037 a0001c0001t0007g0052 a0001c0001t0011g0216 a0001c0001t0018g0253 a0001c0001t0018g0257 a0001c0001t0032g0210 a0001c0001t0032g0240 a0001c0001t0068g0288 a0001c0001t0071g0238 a0001c0001t0072g0229 a0001c0013t0002g0200 a0001c0013t0006g0181 a0001c0013t0011g0209 a0001c0013t0011g0230 a0001c0089t0002g0194 a0002c0005t0001g0033 a0002c0005t0001g0034 a0002c0005t0001g0035 a0002c0005t0001g0036 a0002c0005t0001g0048 a0002c0005t0001g0065 a0002c0005t0001g0066 a0002c0005t0005g0050 a0002c0005t0005g0053 a0002c0005t0005g0054 a0002c0005t0006g0293 a0002c0005t0007g0031 a0002c0005t0007g0043 a0002c0005t0007g0051 a0002c0005t0007g0057 a0002c0005t0011g0242 a0002c0005t0051g0063 a0002c0007t0020g0308 a0002c0007t0052g0075 a0002c0011t0001g0038 a0002c0011t0001g0270 a0002c0011t0002g0275 a0002c0011t0009g0044 a0002c0020t0026g0231 a0002c0020t0026g0233 a0003c0003t0002g0239 a0003c0003t0002g0256 a0003c0003t0005g0271 a0003c0003t0006g0196 a0003c0003t0030g0064 a0003c0003t0056g0045 a0003c0009t0021g0304 a0004c0004t0002g0183 a0004c0004t0002g0202 a0004c0004t0002g0211 a0004c0004t0002g0227 a0004c0004t0002g0248 a0004c0004t0002g0255 a0004c0004t0002g0282 a0004c0004t0002g0295 a0004c0004t0004g0187 a0004c0004t0004g0189 a0004c0004t0004g0199 a0004c0004t0004g0201 a0004c0004t0004g0203 a0004c0004t0004g0204 a0004c0004t0004g0206 a0004c0004t0004g0289 a0004c0004t0008g0173 a0004c0004t0008g0215 a0004c0004t0008g0273 a0004c0004t0008g0292 a0004c0004t0011g0222 a0004c0004t0014g0296 a0004c0004t0025g0237 a0004c0025t0008g0278 a0004c0025t0008g0280 a0004c0025t0008g0286 a0004c0026t0004g0290 a0004c0026t0012g0040 a0004c0026t0014g0214 a0004c0082t0002g0225 a0004c0088t0025g0235 a0005c0002t0014g0190 a0005c0002t0014g0191 a0005c0002t0070g0185 a0006c0014t0003g0047 a0006c0014t0003g0059 a0006c0014t0003g0061 a0006c0014t0005g0049 a0006c0027t0003g0272 a0006c0027t0004g0177 a0006c0027t0009g0060 a0006c0033t0034g0303 a0006c0065t0033g0232 a0006c0097t0012g0042 a0006c0098t0067g0039 a0007c0006t0017g0259 a0007c0060t0060g0305 a0009c0019t0073g0285 a0009c0028t0003g0260 a0009c0028t0020g0307 a0011c0010t0002g0184 a0011c0010t0002g0195 a0011c0010t0002g0236 a0011c0010t0002g0244 a0011c0010t0006g0245 a0012c0008t0003g0027 a0013c0018t0047g0302 a0013c0052t0049g0261 a0015c0024t0008g0252 a0015c0024t0014g0246 a0015c0024t0025g0251 a0020c0039t0004g0284 a0020c0039t0009g0058 a0021c0094t0001g0056 a0022c0083t0008g0207 a0027c0091t0002g0219 a0029c0080t0018g0254 a0031c0051t0042g0306 a0032c0085t0011g0281 a0040c0050t0006g0186 a0041c0090t0014g0205 a0042c0093t0002g0178 a0044c0092t0018g0241 a0046c0087t0004g0172 a0047c0081t0002g0208 a0048c0077t0002g0174 a0049c0095t0003g0062 a0050c0078t0011g0176 a0051c0096t0005g0074 a0053c0079t0004g0224 a0055c0086t0008g0213	161	179	0.8994	-52	c.-16 others(71): Show c.-162+4384_-162+4435delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998471	TATATATA others(45): Show TATATATATACATATATATACGTATATATACATATATATACGTATATATA TAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02572.hp1 others(6): Show HG01109.hp1 HG02257.hp1 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG02818.hp2 HG02965.hp2 HG03041.hp1 HG03486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0013 a0003c0003t0003 a0003c0003t0013	a0003c0003t0003g0007 a0003c0003t0003g0042 a0003c0003t0003g0306 others(2): Show a0003c0003t0003g0007 a0003c0003t0003g0042 a0003c0003t0003g0306 a0003c0003t0003g0307 a0003c0003t0013g0308	9	416	0.0216	-52	c.167 others(69): Show c.1678-483_1678-432delATATATATACGTATATATACATATATAT ACGTATATATATACATATATATAC	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL2_chr8_101487439_101674726	101623503	ACAGTAGG others(45): Show ACAGTAGGACAGTACACAATAGGACAGTTCACAGTAAGACAGTTCACGGT ACC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02809.hp2 HG01192.hp2 HG02809.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0022 a0001c0006t0022	a0001c0006t0022g0022 a0001c0006t0022g0177 a0001c0006t0022g0022 a0001c0006t0022g0177	2	304	0.0066	-52	c.125 others(71): Show c.1257+3824_1257+3875delATAGGACAGTTCACAGTAAGACAGTT CACGGTACCCAGTAGGACAGTACACA	GRHL2	ENSG00000083307.12	transcript	ENST00000646743.1	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
GRP_chr18_59215158_59235771	59234431	TAACATAT others(45): Show TAACATATTATACATACCATGGTATATATATAATATAACATATTATACAT ACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0027 a0002c0003t0002g0027	1	381	0.0026	-52	c.39 others(63): Show c.3964_*4015delAACATATTATACATACCATGGTATATATATAATA TAACATATTATACATACC	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3661		chr18	TogoVar
GRTP1_chr13_113319163_113369130	113322742	AGGGGTGG others(45): Show AGGGGTGGGGGTGCCGCTCTCTCTGAGGGGGTGGGGGTGCCGCTTTCTCT GAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	243	0.0041	-52	c.16 others(63): Show c.1694_*1745delCTCAGAGAAAGCGGCACCCCCACCCCCTCAGAGA GAGCGGCACCCCCACCCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding		1420		chr13	TogoVar
GTDC1_chr2_143933068_144337512	144182806	ATAATATA others(45): Show ATAATATATATATTATATATATAATATATATATATTATATATATATTTTA TAT	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19088.hp1 NA18951.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0012 a0001c0001t0002g0013	2	122	0.0164	-52	c.179 others(71): Show c.179+25745_179+25796delATATAAAATATATATATAATATATAT ATATTATATATATAATATATATATTA	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	4/11			chr2	TogoVar
GTF2F2_chr13_45115510_45289893	45189646	GAGGACAT others(45): Show GAGGACATAGGCATGGGCAAAGGCTGTTGTGGTTTTGATTTGCAATACCA TTC	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	208	0.0048	-52	c.305 others(71): Show c.305-17754_305-17703delTGTTGTGGTTTTGATTTGCAATACCA TTCAGGACATAGGCATGGGCAAAGGC	GTF2F2	ENSG00000188342.13	transcript	ENST00000340473.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GYG2_chrX_2823930_2887818	2845069	ATATTTAT others(45): Show ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	298	0.0034	-52	c.149 others(69): Show c.149+1719_149+1770delTTATATACACGTGTGTATGTATATTTAT ATACACGTGTGTATGTATATTTAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845093	ATATTTAT others(45): Show ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0193 a0001c0001t0007g0193	1	293	0.0034	-52	c.149 others(69): Show c.149+1743_149+1794delTTATATACACGTGTGTATGTATATTTAT ATACACGTGTGTATGTATATTTAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2845501	ATATTTAT others(45): Show ATATTTATATACACGTGTGTATGTATATTTATATACACGTGTGTATGTAT ATT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02451.hp1 HG02622.hp1 others(3): Show HG00741.hp2 HG02451.hp1 HG02622.hp1 HG02976.hp1 HG03209.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005 a0002c0006	a0001c0001t0002 a0001c0003t0007 a0002c0002t0006 others(3): Show a0001c0001t0002 a0001c0003t0007 a0002c0002t0006 a0002c0002t0007 a0002c0005t0006 a0002c0006t0002	a0001c0001t0002g0127 a0001c0003t0007g0034 a0002c0002t0006g0050 others(3): Show a0001c0001t0002g0127 a0001c0003t0007g0034 a0002c0002t0006g0050 a0002c0002t0007g0048 a0002c0005t0006g0107 a0002c0006t0002g0113	6	308	0.0195	-52	c.149 others(69): Show c.149+2151_149+2202delTTATATACACGTGTGTATGTATATTTAT ATACACGTGTGTATGTATATTTAT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
H2AX_chr11_119088874_119100465	119100144	CCTTATCT others(45): Show CCTTATCTTCTATAATTACTATGCATATTGCTTTTTTCCCCTGAATTTCC CAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	428	0.0023	-52	c.-48 others(63): Show c.-4802_-4751delTTGGGAAATTCAGGGGAAAAAAGCAATATGCATA GTAATTATAGAAGATAAG	H2AX	ENSG00000188486.4	transcript	ENST00000530167.2	protein_coding		4680		chr11	TogoVar
HACE1_chr6_104723094_104864919	104727283	ATATGTAT others(45): Show ATATGTATACGAATATATATACACATGTATGTATACGAATATATATACAC ATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02717.hp2 others(1): Show HG02280.hp1 HG02451.hp2 HG02717.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 others(1): Show a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089	4	254	0.0157	-52	c.23 others(63): Show c.2327_*2378delCATGTGTATATATATTCGTATACATACATGTGTA TATATATTCGTATACATA	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		810		chr6	TogoVar
HACE1_chr6_104723094_104864919	104727658	CATACACA others(45): Show CATACACACGTATGTATATGAATACATACACACATATATATGTATATGAA TAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0337 a0001c0001t0006g0337	1	263	0.0038	-52	c.19 others(63): Show c.1952_*2003delATATTCATATACATATATATGTGTGTATGTATTC ATATACATACGTGTGTAT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding		435		chr6	TogoVar
HCN2_chr19_584881_622159	605325	TCAGAGGT others(45): Show TCAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCC TTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp1 others(79): Show HG00099.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01256.hp2 HG01515.hp2 HG01891.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02809.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18960.hp2 NA18970.hp2 NA18979.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19063.hp1 NA19070.hp2 NA19074.hp1 NA19083.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0006 a0009 a0010 a0016	a0001c0003 a0001c0006 a0001c0007 others(28): Show a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0018 a0001c0020 a0001c0023 a0001c0024 a0001c0025 a0001c0031 a0001c0032 a0001c0034 a0001c0042 a0001c0075 a0001c0082 a0001c0083 a0001c0084 a0001c0085 a0001c0094 a0001c0112 a0002c0010 a0002c0012 a0002c0019 a0002c0021 a0002c0054 a0002c0057 a0005c0110 a0006c0047 a0009c0086 a0010c0056 a0016c0087	a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 others(48): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0011 a0001c0003t0018 a0001c0006t0002 a0001c0007t0001 a0001c0007t0007 a0001c0008t0002 a0001c0008t0007 a0001c0008t0014 a0001c0018t0001 a0001c0020t0004 a0001c0020t0008 a0001c0023t0001 a0001c0024t0002 a0001c0025t0001 a0001c0025t0004 a0001c0025t0005 a0001c0031t0001 a0001c0032t0004 a0001c0034t0004 a0001c0034t0005 a0001c0034t0029 a0001c0042t0008 a0001c0075t0004 a0001c0082t0004 a0001c0083t0009 a0001c0084t0004 a0001c0085t0001 a0001c0094t0001 a0001c0112t0016 a0002c0010t0001 a0002c0010t0002 a0002c0012t0001 a0002c0019t0003 a0002c0019t0004 a0002c0019t0020 a0002c0019t0022 a0002c0021t0001 a0002c0021t0026 a0002c0054t0004 a0002c0057t0002 a0005c0110t0006 a0006c0047t0003 a0009c0086t0005 a0010c0056t0001 a0016c0087t0005	a0001c0003t0001g0020 a0001c0003t0001g0087 a0001c0003t0001g0090 others(77): Show a0001c0003t0001g0020 a0001c0003t0001g0087 a0001c0003t0001g0090 a0001c0003t0001g0170 a0001c0003t0001g0181 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0230 a0001c0003t0001g0231 a0001c0003t0002g0110 a0001c0003t0002g0111 a0001c0003t0002g0178 a0001c0003t0002g0180 a0001c0003t0002g0193 a0001c0003t0002g0205 a0001c0003t0002g0219 a0001c0003t0002g0223 a0001c0003t0002g0232 a0001c0003t0004g0012 a0001c0003t0006g0203 a0001c0003t0007g0067 a0001c0003t0010g0210 a0001c0003t0011g0198 a0001c0003t0018g0384 a0001c0006t0002g0107 a0001c0007t0001g0127 a0001c0007t0007g0222 a0001c0008t0002g0083 a0001c0008t0007g0004 a0001c0008t0014g0371 a0001c0018t0001g0051 a0001c0020t0004g0030 a0001c0020t0004g0397 a0001c0020t0008g0010 a0001c0020t0008g0013 a0001c0023t0001g0370 a0001c0024t0002g0014 a0001c0025t0001g0053 a0001c0025t0004g0046 a0001c0025t0005g0052 a0001c0031t0001g0149 a0001c0032t0004g0100 a0001c0034t0004g0043 a0001c0034t0005g0035 a0001c0034t0029g0061 a0001c0042t0008g0112 a0001c0075t0004g0202 a0001c0082t0004g0208 a0001c0083t0009g0097 a0001c0084t0004g0101 a0001c0085t0001g0221 a0001c0094t0001g0369 a0001c0112t0016g0049 a0002c0010t0001g0253 a0002c0010t0001g0263 a0002c0010t0001g0290 a0002c0010t0001g0313 a0002c0010t0001g0356 a0002c0010t0001g0363 a0002c0010t0002g0268 a0002c0010t0002g0270 a0002c0010t0002g0322 a0002c0012t0001g0317 a0002c0012t0001g0348 a0002c0019t0003g0332 a0002c0019t0004g0280 a0002c0019t0004g0368 a0002c0019t0020g0269 a0002c0019t0022g0267 a0002c0021t0001g0266 a0002c0021t0001g0310 a0002c0021t0001g0343 a0002c0021t0026g0311 a0002c0054t0004g0250 a0002c0057t0002g0260 a0005c0110t0006g0048 a0006c0047t0003g0002 a0009c0086t0005g0135 a0010c0056t0001g0309 a0016c0087t0005g0220	82	358	0.2291	-52	c.121 others(69): Show c.1218+155_1218+206delACAGAGGTGGGGACCCAGGCGCCCCCTT ATGGAGGGGAGGACTCGGGCCCTT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605384	TGGGGACC others(45): Show TGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTTCAGA GGC	T T	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19065.hp2 NA18944.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0146 a0001c0002t0003g0093 a0001c0001t0002g0146 a0001c0002t0003g0093	2	388	0.0052	-52	c.121 others(69): Show c.1218+207_1218+258delTCAGAGGCGGGGACCCAGGCGCCCCCTT ATGGAGGGGAGGACTCGGGCCCTT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605429	TCAGAGGC others(45): Show TCAGAGGCGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCC TTA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp2 HG01257.hp1 others(13): Show HG01074.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG01891.hp2 HG02280.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG03130.hp1 HG03195.hp2 HG03710.hp1 HG03927.hp1 NA19240.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0001c0006 a0001c0008 others(10): Show a0001c0001 a0001c0006 a0001c0008 a0001c0014 a0001c0017 a0001c0022 a0001c0026 a0001c0032 a0001c0091 a0001c0098 a0002c0035 a0003c0048 a0014c0080	a0001c0001t0001 a0001c0001t0004 a0001c0006t0006 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0006 a0001c0006t0010 a0001c0008t0004 a0001c0014t0027 a0001c0017t0001 a0001c0022t0001 a0001c0026t0002 a0001c0032t0004 a0001c0091t0012 a0001c0098t0006 a0002c0035t0005 a0003c0048t0001 a0014c0080t0004	a0001c0001t0001g0204 a0001c0001t0004g0017 a0001c0006t0006g0249 others(12): Show a0001c0001t0001g0204 a0001c0001t0004g0017 a0001c0006t0006g0249 a0001c0006t0010g0167 a0001c0008t0004g0385 a0001c0014t0027g0248 a0001c0017t0001g0376 a0001c0022t0001g0242 a0001c0026t0002g0044 a0001c0032t0004g0381 a0001c0091t0012g0380 a0001c0098t0006g0064 a0002c0035t0005g0352 a0003c0048t0001g0003 a0014c0080t0004g0386	16	393	0.0407	-52	c.121 others(69): Show c.1218+214_1218+265delCGGGGACCCAGGCGCCCCCTTATGGAGG GGAGGACTCGGGCCCTTACAGAGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605436	CGGGGACC others(45): Show CGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCCTTACAGA GGT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0077 a0001c0077	a0001c0077t0004 a0001c0077t0004	a0001c0077t0004g0382 a0001c0077t0004g0382	1	373	0.0027	-52	c.121 others(69): Show c.1218+259_1218+310delACAGAGGTGGGGACCCAGGCGCCCCCTT ATGGAGGGGAGGACTCGGGCCCTT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	605585	TCAGAGGT others(45): Show TCAGAGGTGGGGACCCAGGCGCCCCCTTATGGAGGGGAGGACTCGGGCCC TTA	A A	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0339 a0002c0011t0001g0339	1	153	0.0065	-52	c.121 others(69): Show c.1218+363_1218+414delTCAGAGGTGGGGACCCAGGCGCCCCCTT ATGGAGGGGAGGACTCGGGCCCTT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7			chr19	TogoVar
HCN2_chr19_584881_622159	605725	GAGGACTC others(45): Show GAGGACTCGGGCCCTTACAGAGGTGGGGACCCAGGCGCCCCCTTATGGAG GGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG04204.hp2 NA20905.hp1 HG01361.hp1 HG04204.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0053 a0002c0055 a0001c0002 a0002c0053 a0002c0055	a0001c0002t0004 a0002c0053t0002 a0002c0055t0001 a0001c0002t0004 a0002c0053t0002 a0002c0055t0001	a0001c0002t0004g0182 a0002c0053t0002g0282 a0002c0055t0001g0271 a0001c0002t0004g0182 a0002c0053t0002g0282 a0002c0055t0001g0271	3	406	0.0074	-52	c.121 others(69): Show c.1218+526_1218+577delTGGGGACCCAGGCGCCCCCTTATGGAGG GAAGGACTCGGGCCCTTACAGAGG	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDAC9_chr7_18490749_19007416	18627714	ACATTTCA others(45): Show ACATTTCAGATCTCTATCACTTTGAGCTTGTGCTCACCCCTGATCTCTGC CCC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0115 a0001c0002t0005g0115	1	154	0.0065	-52	c.665 others(69): Show c.665-1635_665-1584delCATTTCAGATCTCTATCACTTTGAGCTT GTGCTCACCCCTGATCTCTGCCCC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	6/25			chr7	TogoVar
HDAC9_chr7_18490749_19007416	18732859	GCGTATGT others(45): Show GCGTATGTGTACACACACACGTGTGCGTATGTGTACACACACACGTGTGC GTA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02273.hp2 HG02602.hp1 others(3): Show HG00741.hp2 HG02273.hp2 HG02602.hp1 NA18522.hp2 NA18939.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011	a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0002g0034 others(3): Show a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0002g0034 a0001c0002t0003g0067 a0001c0002t0003g0132 a0001c0002t0011g0037	6	154	0.0390	-52	c.190 others(71): Show c.1909+5103_1909+5154delCGTATGTGTACACACACACGTGTGCG TATGTGTACACACACACGTGTGCGTA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	13/25			chr7	TogoVar
HECTD4_chr12_112155195_112387431	112323965	TCTTCCTT others(45): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01928.hp1 HG01993.hp1 others(13): Show HG00597.hp1 HG01928.hp1 HG01993.hp1 HG02027.hp2 HG02074.hp1 HG02717.hp1 HG03017.hp2 HG03239.hp2 NA18943.hp1 NA18945.hp1 NA18950.hp1 NA18960.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA20300.hp1	a0001 a0011 a0001 a0011	a0001c0002 a0001c0016 a0011c0015 a0001c0002 a0001c0016 a0011c0015	a0001c0002t0001 a0001c0002t0020 a0001c0016t0001 others(1): Show a0001c0002t0001 a0001c0002t0020 a0001c0016t0001 a0011c0015t0001	a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0171 others(13): Show a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0171 a0001c0002t0001g0185 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0198 a0001c0002t0001g0202 a0001c0002t0001g0209 a0001c0002t0001g0213 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0245 a0001c0002t0020g0270 a0001c0016t0001g0168 a0011c0015t0001g0173	16	104	0.1538	-52	c.178 others(69): Show c.178-4275_178-4224delGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAG	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HGS_chr17_81679011_81707121	81686829	TCCGGCCA others(45): Show TCCGGCCACTGACGGGCCTGTCGAAGGGCTCTGCTGTCCCACCGGGTTCC CCA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18961.hp2 HG02056.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	344	0.0058	-52	c.199 others(66): Show c.199-132_199-81delCGGGTTCCCCACCGGCCACTGACGGGCCTGT CGAAGGGCTCTGCTGTCCCAC	HGS	ENSG00000185359.14	transcript	ENST00000329138.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
HHIPL1_chr14_99640129_99685569	99656836	AAAGGAAG others(45): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03834.hp1 NA18906.hp2 HG02965.hp1 HG03834.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0011 a0002c0001t0001 a0002c0001t0021 a0001c0002t0011 a0002c0001t0001 a0002c0001t0021	a0001c0002t0011g0030 a0002c0001t0001g0009 a0002c0001t0021g0085 a0001c0002t0011g0030 a0002c0001t0001g0009 a0002c0001t0021g0085	3	275	0.0109	-52	c.903 others(67): Show c.903-155_903-104delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGG	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIP_chr4_144641156_144750271	144742874	TTTTATAT others(45): Show TTTTATATATATCTTATATATATATCTTTTTATATATATCTTATATATAT ATC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG03209.hp1 NA19043.hp2 HG02145.hp2 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0147 a0001c0001t0018g0148 a0001c0001t0018g0149 a0001c0001t0018g0147 a0001c0001t0018g0148 a0001c0001t0018g0149	3	314	0.0096	-52	c.49 others(63): Show c.4945_*4996delTTTATATATATCTTATATATATATCTTTATATAT ATCTTATATATATATCTT	HHIP	ENSG00000164161.10	transcript	ENST00000296575.8	protein_coding	13/13	4945	INFO_REALIGN_3_PRIME	chr4	TogoVar
HOXA6_chr7_27140396_27152774	27151629	GAAAAACC others(45): Show GAAAAACCGGGCGAAGGGAAGCCGGCAACGAGCGGAGAACTCTGGCTGAA TTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	384	0.0026	-52	c.-39 others(63): Show c.-3932_-3881delTAATTCAGCCAGAGTTCTCCGCTCGTTGCCGGCT TCCCTTCGCCCGGTTTTT	HOXA6	ENSG00000106006.6	transcript	ENST00000222728.3	protein_coding		3856		chr7	TogoVar
HS2ST1_chr1_86909635_87114982	86985383	TACACACA others(45): Show TACACACACACACACACATATATATACACATATATATACACATATATACA CAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp2 HG03516.hp2 others(2): Show HG02486.hp2 HG02886.hp2 HG03516.hp2 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0063 a0001c0001t0010g0057 a0001c0001t0010g0058 others(2): Show a0001c0001t0001g0063 a0001c0001t0010g0057 a0001c0001t0010g0058 a0001c0001t0010g0059 a0001c0001t0010g0060	5	133	0.0376	-52	c.124 others(71): Show c.124+70225_124+70276delCACACACACACACACATATATATACA CATATATATACACATATATACACACA	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HSD17B12_chr11_43675738_43861615	43816998	CTATATCT others(45): Show CTATATCTATATCTATATCTATATCTATATCTATATCTATATCTATATAT ATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG02258.hp2 others(14): Show HG01109.hp1 HG01496.hp1 HG02258.hp2 HG02280.hp1 HG02622.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0120 a0001c0001t0001g0121 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0271	17	274	0.0620	-52	c.501 others(67): Show c.501+613_501+664delCTATATCTATATCTATATCTATATCTATAT CTATATCTATATATATATATAT	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
HTR1E_chr6_86932528_87021679	87009788	TCCCCCAC others(45): Show TCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGACTGAC CCC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03239.hp1 HG03669.hp1 others(1): Show HG01175.hp2 HG03239.hp1 HG03669.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 others(1): Show a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0241	4	297	0.0135	-52	c.-18 others(71): Show c.-185-5318_-185-5267delACTGACCCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGG	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
IFNA4_chr9_21181618_21192587	21184298	TTCCTTCC others(45): Show TTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCT TCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0000 a0005c0005t0002g0000	1	420	0.0024	-52	c.26 others(63): Show c.2612_*2663delGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAG GAAGGAAGGAAGGAAGGA	IFNA4	ENSG00000236637.5	transcript	ENST00000421715.3	protein_coding		2319		chr9	TogoVar
IFT140_chr16_1505427_1617072	1528346	CATGCACG others(45): Show CATGCACGCACGTGTGCACACACACGCATGCACGCACGTGTGCACACACA CGG	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0006 a0001c0014t0006	a0001c0014t0006g0209 a0001c0014t0006g0209	1	332	0.0030	-52	c.240 others(71): Show c.2400-1602_2400-1551delCCGTGTGTGTGCACACGTGCGTGCAT GCGTGTGTGTGCACACGTGCGTGCAT	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	19/30			chr16	TogoVar
IGF1R_chr15_98643539_98969530	98967227	GACTCCCA others(45): Show GACTCCCAAAGGAAATCTGCCCCTAGAAAACACTGAACAGGTAGAATCTT GCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	208	0.0048	-52	c.97 others(63): Show c.9786_*9837delACTCCCAAAGGAAATCTGCCCCTAGAAAACACTG AACAGGTAGAATCTTGCT	IGF1R	ENSG00000140443.15	transcript	ENST00000650285.1	protein_coding		2698		chr15	TogoVar
IGF2BP1_chr17_48992385_49061145	49019930	ATATATAT others(45): Show ATATATATATATATATATATTTATATACACACACACACACACACACATAC ACC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0152 a0001c0001t0027g0152	1	316	0.0032	-52	c.237 others(69): Show c.237-5687_237-5636delTATATATATATATATATATTTATATACA CACACACACACACACACATACACC	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14			chr17	TogoVar
IGF2BP1_chr17_48992385_49061145	49019931	TATATATA others(45): Show TATATATATATATATATATTTATATACACACACACACACACACACATACA CCC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0151 a0001c0001t0017g0151	1	313	0.0032	-52	c.237 others(69): Show c.237-5685_237-5634delTATATATATATATATATTTATATACACA CACACACACACACACATACACCCA	IGF2BP1	ENSG00000159217.10	transcript	ENST00000290341.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
IGF2R_chr6_159964082_160116504	160100723	CCTTTTTT others(45): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG01106.hp1 others(2): Show HG00408.hp2 HG00544.hp1 HG01106.hp1 HG02683.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0004 a0001c0002t0011 a0001c0002t0075 others(2): Show a0001c0001t0004 a0001c0002t0011 a0001c0002t0075 a0001c0009t0011 a0001c0009t0014	a0001c0001t0004g0114 a0001c0002t0011g0090 a0001c0002t0075g0133 others(2): Show a0001c0001t0004g0114 a0001c0002t0011g0090 a0001c0002t0075g0133 a0001c0009t0011g0131 a0001c0009t0014g0228	5	25	0.2000	-52	c.684 others(71): Show c.6843-1795_6843-1744delCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	45/47			chr6	TogoVar
IL15_chr4_141631583_141738987	141709003	ATTCAATA others(45): Show ATTCAATATTATTCAATATTGAAAATTTTCAATATTATTCAATATTGAAA ATT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	2	224	0.0089	-52	c.-99 others(71): Show c.-99-10327_-99-10276delATTCAATATTGAAAATTTTCAATATT ATTCAATATTGAAAATTTTCAATATT	IL15	ENSG00000164136.17	transcript	ENST00000320650.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
IL19_chr1_206765773_206847981	206781841	GGTTATAT others(45): Show GGTTATATATACATATATATGTATATAGTTATATATACATATATATGTAT ATA	G G	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp2 NA19011.hp2 others(3): Show NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005	a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0321 others(3): Show a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0321 a0002c0002t0004g0125 a0002c0002t0004g0159 a0002c0002t0005g0315	6	318	0.0189	-52	c.-14 others(73): Show c.-149+10841_-149+10892delAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATAT	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL1RAPL1_chrX_28582446_29961718	29335260	ACGGAGAC others(45): Show ACGGAGACGGAGACGGAGAGGGGAGAGGGGAGAGGGGAGAGGGGAGAGGG GAG	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03492.hp1 HG04199.hp1 HG02083.hp1 HG03492.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0092 a0001c0001t0002g0053 a0001c0001t0012g0095 a0001c0001t0001g0092 a0001c0001t0002g0053 a0001c0001t0012g0095	3	78	0.0385	-52	c.362 others(71): Show c.362+52044_362+52095delCGGAGACGGAGACGGAGAGGGGAGAG GGGAGAGGGGAGAGGGGAGAGGGGAG	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	3/10			chrX	TogoVar

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