Joint Open Genome and Omics Platform (JoGo)

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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
ZP4_chr1_237877404_237895922	237883963	CACAAACA others(47): Show CACAAACACACACACACACAAACACACACACACACACACACACACACACA CACAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0086 a0001c0001t0001g0087	2	438	0.0046	-54	c.139 others(71): Show c.1390+752_1390+805delTTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTTTGTGTGTGTGTGTGTTTGT	ZP4	ENSG00000116996.10	transcript	ENST00000366570.5	protein_coding	10/11			chr1	TogoVar
ZSWIM5_chr1_45011399_45211605	45203692	GTTTAGGA others(47): Show GTTTAGGAGATGGGGGATGAGTCTCTATTAAAGGTGGTTCATACCAAAAT ACAGA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0108 a0001c0001t0007g0108	1	232	0.0043	-54	c.595 others(71): Show c.595+2010_595+2063delTCTGTATTTTGGTATGAACCACCTTTAA TAGAGACTCATCCCCCATCTCCTAAA	ZSWIM5	ENSG00000162415.7	transcript	ENST00000359600.6	protein_coding	1/13			chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52803103	TATATATA others(47): Show TATATATATATATATACACACATATATATATACACACATATATATATATA TACAC	T T	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18999.hp1 NA18982.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0019 a0001c0001t0013 a0001c0001t0019	a0001c0001t0013g0093 a0001c0001t0019g0127 a0001c0001t0013g0093 a0001c0001t0019g0127	2	346	0.0058	-54	c.169 others(72): Show c.1695+976_1695+1029delTATACACACATATATATATACACACAT ATATATATATATACACATATATATATA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZYG11B_chr1_52721453_52832336	52803151	TATACACA others(47): Show TATACACATATATATATACACACATATATATATATATACACATATATATA TATAC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0137 a0001c0001t0027g0137	1	348	0.0029	-54	c.169 others(73): Show c.1695+1014_1695+1067delTACACATATATATATACACACATATA TATATATATACACATATATATATATACA	ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCA1_chr9_104776006_104933155	104862644	CGGGCCGG others(46): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGC CGGG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG02615.hp1 HG02717.hp1	a0004 a0019 a0004 a0019	a0004c0098 a0019c0095 a0004c0098 a0019c0095	a0004c0098t0005 a0019c0095t0002 a0004c0098t0005 a0019c0095t0002	a0004c0098t0005g0304 a0019c0095t0002g0115 a0004c0098t0005g0304 a0019c0095t0002g0115	2	283	0.0071	-53	c.422 others(68): Show c.422-897_422-845delCCCGGCCCGGCCCGGCCCGGCCCGGCCCGG CCCGGCCCGGCCCGGCCCGGCCC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104868787	ATCCAGGC others(46): Show ATCCAGGCCTCTGGGACCAAGCCGGGGAACCAGCTGGGACCTCTGGGACC CAGG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0294 a0001c0001t0006g0294	1	316	0.0032	-53	c.422 others(70): Show c.422-7040_422-6988delCCTGGGTCCCAGAGGTCCCAGCTGGTTC CCCGGCTTGGTCCCAGAGGCCTGGA	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA3_chr16_2270881_2345728	2299161	ACGGACAG others(46): Show ACGGACAGAGGCGGTGAGGAGGGCAGGGGTCCCTGGGGGTCCCCCGGCAT GTCC	A A	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	250	0.0040	-53	c.174 others(70): Show c.1741+189_1741+241delGGACATGCCGGGGGACCCCCAGGGACCC CTGCCCTCCTCACCGCCTCTGTCCG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	14/32			chr16	TogoVar
ABCB8_chr7_151023450_151052782	151027375	TCTCCCCA others(46): Show TCTCCCCATGTGATGAAATATGGCCTCGTGGGAAGGGAAAGACCTGACCG TCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(138): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18959.hp1 NA18961.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp2 NA18984.hp2 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19002.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19089.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp1	a0001 a0003 a0005 others(7): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0014	a0001c0001 a0001c0002 a0001c0006 others(13): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0017 a0001c0025 a0003c0004 a0005c0007 a0006c0008 a0007c0012 a0008c0016 a0009c0023 a0011c0024 a0012c0014 a0014c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(29): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0028 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0015 a0001c0002t0024 a0001c0002t0025 a0001c0002t0027 a0001c0002t0029 a0001c0002t0030 a0001c0002t0032 a0001c0006t0004 a0001c0006t0007 a0001c0009t0009 a0001c0011t0011 a0001c0017t0003 a0001c0025t0031 a0003c0004t0005 a0005c0007t0003 a0005c0007t0009 a0005c0007t0026 a0006c0008t0004 a0007c0012t0003 a0008c0016t0003 a0009c0023t0003 a0011c0024t0005 a0012c0014t0003 a0014c0013t0003	a0001c0001t0001g0123 a0001c0001t0004g0030 a0001c0001t0004g0079 others(74): Show a0001c0001t0001g0123 a0001c0001t0004g0030 a0001c0001t0004g0079 a0001c0001t0004g0103 a0001c0001t0004g0105 a0001c0001t0012g0033 a0001c0001t0012g0115 a0001c0001t0028g0033 a0001c0002t0002g0091 a0001c0002t0003g0003 a0001c0002t0003g0012 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0032 a0001c0002t0003g0034 a0001c0002t0003g0083 a0001c0002t0003g0087 a0001c0002t0003g0089 a0001c0002t0003g0090 a0001c0002t0003g0092 a0001c0002t0003g0094 a0001c0002t0003g0096 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0003g0099 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0110 a0001c0002t0003g0111 a0001c0002t0003g0113 a0001c0002t0003g0114 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0122 a0001c0002t0003g0124 a0001c0002t0003g0126 a0001c0002t0004g0003 a0001c0002t0013g0028 a0001c0002t0015g0095 a0001c0002t0024g0121 a0001c0002t0025g0003 a0001c0002t0027g0120 a0001c0002t0029g0108 a0001c0002t0030g0003 a0001c0002t0032g0012 a0001c0006t0004g0112 a0001c0006t0007g0010 a0001c0009t0009g0084 a0001c0009t0009g0085 a0001c0009t0009g0086 a0001c0009t0009g0109 a0001c0011t0011g0003 a0001c0017t0003g0082 a0001c0025t0031g0080 a0003c0004t0005g0006 a0003c0004t0005g0081 a0003c0004t0005g0102 a0003c0004t0005g0104 a0003c0004t0005g0106 a0005c0007t0003g0009 a0005c0007t0009g0088 a0005c0007t0026g0009 a0006c0008t0004g0017 a0006c0008t0004g0031 a0006c0008t0004g0107 a0007c0012t0003g0003 a0008c0016t0003g0093 a0009c0023t0003g0012 a0011c0024t0005g0006 a0012c0014t0003g0003 a0014c0013t0003g0009	141	397	0.3552	-53	c.-11 others(64): Show c.-1140_-1088delCTCCCCATGTGATGAAATATGGCCTCGTGGGAAG GGAAAGACCTGACCGTCCC	ABCB8	ENSG00000197150.13	transcript	ENST00000358849.9	protein_coding		1074		chr7	TogoVar
ABCG1_chr21_42214140_42302244	42293081	CACACACT others(46): Show CACACACTACACACCACACACGGTACACACCACACACTACACACACCACA CACT	C C	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	352	0.0028	-53	c.165 others(72): Show c.1654-1415_1654-1363delCACACACTACACACTACACACCACAC ACGGTACACACCACACACTACACACAC	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABL2_chr1_179094330_179234677	179135764	CGGGAGGG others(46): Show CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	348	0.0029	-53	c.158 others(70): Show c.158-2443_158-2391delTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCC	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABTB3_chr12_107313434_107664642	107663146	CTCCTTCT others(46): Show CTCCTTCTGACTTGATGTCCTGTGGGCCTAGACTGGAACCTGTCACACTC TCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0043 a0002c0015t0001g0043	1	186	0.0054	-53	c.54 others(64): Show c.5429_*5481delTCCTTCTGACTTGATGTCCTGTGGGCCTAGACTG GAACCTGTCACACTCTCCT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding		3505		chr12	TogoVar
ACAA1_chr3_38117715_38142127	38141506	AGCCAGGA others(46): Show AGCCAGGACACTATAGAACAGGACCAGCTGAGACTAAGAAGGACCAGCAG AGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	370	0.0027	-53	c.-45 others(64): Show c.-4524_-4472delGGCTCTGCTGGTCCTTCTTAGTCTCAGCTGGTCC TGTTCTATAGTGTCCTGGC	ACAA1	ENSG00000060971.19	transcript	ENST00000333167.13	protein_coding		4380		chr3	TogoVar
ACAA2_chr18_49777164_49818533	49800212	CGGGAGGT others(46): Show CGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG01433.hp1 others(6): Show HG01099.hp1 HG01123.hp1 HG01433.hp1 HG03041.hp2 HG03579.hp2 NA18968.hp2 NA19009.hp1 NA19011.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0001t0020 a0001c0001t0031 others(2): Show a0001c0001t0004 a0001c0001t0020 a0001c0001t0031 a0001c0001t0032 a0001c0006t0004	a0001c0001t0004g0009 a0001c0001t0004g0181 a0001c0001t0020g0185 others(3): Show a0001c0001t0004g0009 a0001c0001t0004g0181 a0001c0001t0020g0185 a0001c0001t0031g0201 a0001c0001t0032g0200 a0001c0006t0004g0179	9	395	0.0228	-53	c.183 others(70): Show c.183+2422_183+2474delTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCC	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACER3_chr11_76855918_77031797	76934661	AGAGGGAG others(46): Show AGAGGGAGACCGTGGAAAGAGAGGGAGAGGGAGACCGTGGGGAGACGGGA GAGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG01884.hp2 others(38): Show HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0016 a0001c0003t0026 others(25): Show a0001c0003t0011 a0001c0003t0016 a0001c0003t0026 a0001c0003t0027 a0001c0003t0129 a0001c0003t0130 a0001c0003t0131 a0001c0003t0132 a0001c0003t0133 a0001c0003t0134 a0001c0003t0135 a0001c0003t0136 a0001c0003t0137 a0001c0003t0138 a0001c0003t0139 a0001c0003t0140 a0001c0003t0141 a0001c0003t0142 a0001c0003t0143 a0001c0003t0144 a0001c0003t0145 a0001c0003t0146 a0001c0003t0147 a0001c0003t0148 a0001c0003t0149 a0001c0003t0150 a0001c0003t0151 a0001c0003t0152	a0001c0003t0011g0101 a0001c0003t0011g0103 a0001c0003t0011g0104 others(38): Show a0001c0003t0011g0101 a0001c0003t0011g0103 a0001c0003t0011g0104 a0001c0003t0011g0106 a0001c0003t0011g0107 a0001c0003t0011g0111 a0001c0003t0016g0102 a0001c0003t0016g0105 a0001c0003t0016g0108 a0001c0003t0016g0109 a0001c0003t0016g0112 a0001c0003t0026g0114 a0001c0003t0026g0115 a0001c0003t0026g0120 a0001c0003t0027g0117 a0001c0003t0027g0118 a0001c0003t0027g0119 a0001c0003t0129g0346 a0001c0003t0130g0342 a0001c0003t0131g0343 a0001c0003t0132g0340 a0001c0003t0133g0345 a0001c0003t0134g0344 a0001c0003t0135g0341 a0001c0003t0136g0121 a0001c0003t0137g0123 a0001c0003t0138g0122 a0001c0003t0139g0116 a0001c0003t0140g0332 a0001c0003t0141g0336 a0001c0003t0142g0334 a0001c0003t0143g0338 a0001c0003t0144g0113 a0001c0003t0145g0124 a0001c0003t0146g0335 a0001c0003t0147g0014 a0001c0003t0148g0337 a0001c0003t0149g0339 a0001c0003t0150g0110 a0001c0003t0151g0333 a0001c0003t0152g0125	41	340	0.1206	-53	c.214 others(70): Show c.214+8042_214+8094delGAGAGGGAGGGAGACCGTGGAAAGAGAG GGAGAGGGAGACCGTGGGGAGACGG	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACMSD_chr2_134833616_134907034	134834845	GAGGGAGG others(46): Show GAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	379	0.0026	-53	c.-38 others(64): Show c.-3837_-3785delAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAAGA	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding		3770		chr2	TogoVar
ACTG2_chr2_73888008_73924865	73901533	TGTGTGTG others(46): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC TGTG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02922.hp2 HG02976.hp1 others(3): Show HG00639.hp2 HG02922.hp2 HG02976.hp1 HG03453.hp2 HG03540.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0095 a0001c0002t0001g0129 a0001c0002t0003g0024 others(3): Show a0001c0002t0001g0095 a0001c0002t0001g0129 a0001c0002t0003g0024 a0001c0002t0003g0128 a0001c0002t0003g0297 a0001c0002t0003g0373	6	355	0.0169	-53	c.126 others(67): Show c.126+97_126+149delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTCTGTG	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	2/8			chr2	TogoVar
ADAMTS14_chr10_70667506_70767441	70687923	CACCTCCC others(46): Show CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CCCG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0079 a0001c0079	a0001c0079t0048 a0001c0079t0048	a0001c0079t0048g0240 a0001c0079t0048g0240	1	352	0.0028	-53	c.522 others(72): Show c.522+12943_522+12995delTGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCCCGACCTCCCTCCCGGA	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS14_chr10_70667506_70767441	70687938	TGGGGCGG others(46): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCGACCTCCCTCCC GGAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0276 a0005c0008t0003g0276	1	351	0.0028	-53	c.522 others(72): Show c.522+12948_522+13000delCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCCCGACCTCCCTCCCGGACGGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADARB2_chr10_1172313_1742525	1179878	CCTTGTGT others(46): Show CCTTGTGTCGTGCCCAGCGTATTTTCAGGGTGACAGAAAGTGACCCATCC CCTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02622.hp1 others(3): Show HG01884.hp1 HG02109.hp1 HG02622.hp1 HG02717.hp2 HG02965.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0022 a0001c0001t0023 a0001c0001t0061 others(3): Show a0001c0001t0022 a0001c0001t0023 a0001c0001t0061 a0001c0003t0039 a0001c0003t0040 a0002c0002t0038	a0001c0001t0022g0015 a0001c0001t0023g0023 a0001c0001t0061g0087 others(3): Show a0001c0001t0022g0015 a0001c0001t0023g0023 a0001c0001t0061g0087 a0001c0003t0039g0044 a0001c0003t0040g0073 a0002c0002t0038g0048	6	106	0.0566	-53	c.32 others(64): Show c.3262_*3314delTAGGGGATGGGTCACTTTCTGTCACCCTGAAAAT ACGCTGGGCACGACACAAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	10/10	3262		chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239159	CCCTCTCC others(46): Show CCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGAGTTTACTCCC CTCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA20129.hp2 HG03540.hp1 NA20129.hp2	a0002 a0007 a0002 a0007	a0002c0014 a0007c0013 a0002c0014 a0007c0013	a0002c0014t0008 a0007c0013t0020 a0002c0014t0008 a0007c0013t0020	a0002c0014t0008g0060 a0007c0013t0020g0037 a0002c0014t0008g0060 a0007c0013t0020g0037	2	106	0.0189	-53	c.136 others(72): Show c.1361+2919_1361+2971delAGAGGGGAGTAAACTCCGGGAGGCAG GGGGGAGTAAACACCGGGAGGGAGAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239182	CCCCCCTG others(46): Show CCCCCCTGCCTCCCGGAGTTTACTCCCCTCTCCCTCTCCCTCCCGGTGTT TACT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0002 a0002c0002t0007g0002	1	104	0.0096	-53	c.136 others(72): Show c.1361+2896_1361+2948delAGTAAACACCGGGAGGGAGAGGGAGA GGGGAGTAAACTCCGGGAGGCAGGGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239206	CCCCTCTC others(46): Show CCCCTCTCCCTCTCCCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTT TACT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	74	0.0135	-53	c.136 others(72): Show c.1361+2872_1361+2924delAGTAAACACCGGGAGGCAGGGGGGAG TAAACACCGGGAGGGAGAGGGAGAGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADCY9_chr16_3957653_4121442	3988499	TGGGGGGT others(46): Show TGGGGGGTTCCCTTCCAGGGCAGGTGTCGGGGTTCCTTTCCAGGGCAGGT GGGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01978.hp1 HG00140.hp2 HG01978.hp1	a0003 a0003	a0003c0017 a0003c0029 a0003c0017 a0003c0029	a0003c0017t0046 a0003c0029t0016 a0003c0017t0046 a0003c0029t0016	a0003c0017t0046g0008 a0003c0029t0016g0136 a0003c0017t0046g0008 a0003c0029t0016g0136	2	318	0.0063	-53	c.231 others(70): Show c.2310+442_2310+494delCCCCACCTGCCCTGGAAAGGAACCCCGA CACCTGCCCTGGAAGGGAACCCCCC	ADCY9	ENSG00000162104.10	transcript	ENST00000294016.8	protein_coding	6/10			chr16	TogoVar
ADGB_chr6_146593972_146820462	146691439	TATAAAAA others(46): Show TATAAAAATATATATATATAAAAATATATATATATATAAATATATATATA TATA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01884.hp1 NA19240.hp1 HG01081.hp2 HG01884.hp1 NA19240.hp1	a0004 a0005 a0007 a0004 a0005 a0007	a0004c0008 a0005c0007 a0007c0017 a0004c0008 a0005c0007 a0007c0017	a0004c0008t0002 a0005c0007t0001 a0007c0017t0001 a0004c0008t0002 a0005c0007t0001 a0007c0017t0001	a0004c0008t0002g0229 a0005c0007t0001g0232 a0007c0017t0001g0231 a0004c0008t0002g0229 a0005c0007t0001g0232 a0007c0017t0001g0231	3	274	0.0109	-53	c.148 others(70): Show c.1486+150_1486+202delATAAAAATATATATATATAAAAATATAT ATATATATAAATATATATATATATA	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	11/35			chr6	TogoVar
ADGB_chr6_146593972_146820462	146691442	AAAAATAT others(46): Show AAAAATATATATATATAAAAATATATATATATATAAATATATATATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0029 a0029	a0029c0053 a0029c0053	a0029c0053t0001 a0029c0053t0001	a0029c0053t0001g0064 a0029c0053t0001g0064	1	170	0.0059	-53	c.148 others(70): Show c.1486+154_1486+206delAAATATATATATATAAAAATATATATAT ATATAAATATATATATATATATATA	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRD1_chr12_130948907_131146469	131046252	TCCTCCTG others(46): Show TCCTCCTGGTCAGTGCTCCCTCCCTGGTCAATGCTCCCTCCCTGGTCAGT GCTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03486.hp2 HG02896.hp1 HG02897.hp2 HG03486.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0010c0034 a0001c0003 a0010c0034	a0001c0003t0013 a0010c0034t0026 a0001c0003t0013 a0010c0034t0026	a0001c0003t0013g0224 a0001c0003t0013g0225 a0010c0034t0026g0043 a0001c0003t0013g0224 a0001c0003t0013g0225 a0010c0034t0026g0043	3	240	0.0125	-53	c.147 others(74): Show c.1474-30543_1474-30491delTGGTCAGTGCTCCCTCCCTGGTCA ATGCTCCCTCCCTGGTCAGTGCTCCCTCC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRG3_chr16_57663306_57694378	57691900	CTGCCTGG others(46): Show CTGCCTGGTTCTCTCTTCTGCCCAAATCTCTTCATTCCTTGTATTTTTTC ATTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0216 a0002c0004t0001g0216	1	446	0.0022	-53	c.34 others(64): Show c.3440_*3492delTGCCTGGTTCTCTCTTCTGCCCAAATCTCTTCAT TCCTTGTATTTTTTCATTA	ADGRG3	ENSG00000182885.17	transcript	ENST00000333493.9	protein_coding		2523		chr16	TogoVar
ADSS1_chr14_104719229_104752310	104729535	GTGGGGAG others(46): Show GTGGGGAGGAGCGTGGCGTCGGCGTGGTGGGGAGGAGCGTGGCGTCGGCG TGGT	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	337	0.0030	-53	c.192 others(70): Show c.192+5074_192+5126delTGGGGAGGAGCGTGGCGTCGGCGTGGTG GGGAGGAGCGTGGCGTCGGCGTGGT	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding	1/12			chr14	TogoVar
AFF2_chrX_148495617_149005663	148897230	TATATATA others(46): Show TATATATATATATATATATATATATATATATATATATATATATGTATATG AAAA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0128 a0001c0002t0002g0128	1	167	0.0060	-53	c.136 others(72): Show c.1360-6980_1360-6928delATATATATATATATATATATATATAT ATATATGTATATGAAAAATATATATAT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	8/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGTPBP1_chr9_85541539_85746954	85630413	TATTGAGA others(46): Show TATTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACG ATTG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0298 a0001c0001t0006g0298	1	299	0.0033	-53	c.201 others(72): Show c.2015+2196_2015+2248delCAATCGTGCCACTGCACTCCAGCCTG GGTGACAGAGCAAGACTCTGTCTCAAT	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	14/25			chr9	TogoVar
AK8_chr9_132720578_132883284	132723215	GTTCTTAA others(46): Show GTTCTTAAAACTCATCTGACCCATCTCTAGGTTAGTCCTAACTGTACCAC TGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 NA19000.hp2 NA19005.hp2 others(1): Show HG03130.hp2 NA19000.hp2 NA19005.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0193 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0193 a0001c0001t0001g0233	4	264	0.0152	-53	c.24 others(64): Show c.2420_*2472delTACAGTGGTACAGTTAGGACTAACCTAGAGATGG GTCAGATGAGTTTTAAGAA	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding		2362		chr9	TogoVar
AKAP17A_chrX_1586604_1607520	1587660	CCCCTCCC others(46): Show CCCCTCCCTTCCCCTCCTCTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCT CCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0054 a0001c0005t0001g0054	1	148	0.0068	-53	c.-41 others(64): Show c.-4128_-4076delCCCTCCCTTCCCCTCCTCTCCCTTCCCTTCCCCT CCCCTCCCCTCCCCTCCCT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3943		chrX	TogoVar
AKAP3_chr12_4610518_4654051	4611131	GTTGGATG others(46): Show GTTGGATGGAGTGATGTTATCAAAATACTCTTCTGGCATCTGTGCTCTCT GGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0122 a0007c0011t0001g0122	1	416	0.0024	-53	c.45 others(64): Show c.4555_*4607delTTCCAGAGAGCACAGATGCCAGAAGAGTATTTTG ATAACATCACTCCATCCAA	AKAP3	ENSG00000111254.8	transcript	ENST00000228850.6	protein_coding		4386		chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105082878	ACAGGATA others(46): Show ACAGGATAAAACATCCCACATTTTTCATTCACCACTCAGTAGCTTCCTTT CGAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG01891.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0014 a0001c0001t0012 a0001c0001t0014	a0001c0001t0012g0361 a0001c0001t0014g0362 a0001c0001t0012g0361 a0001c0001t0014g0362	2	384	0.0052	-53	c.48+ others(68): Show c.48+1458_48+1510delGTCGAAAGGAAGCTACTGAGTGGTGAATGA AAAATGTGGGATGTTTTATCCTG	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	1/22			chr12	TogoVar
ALDH3B2_chr11_67657155_67679623	67668702	ACTGTGTG others(46): Show ACTGTGTGTCTTTGTGTGTATGGGTGTCTGTGTGTGTCTGTGTATGTATG GGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00642.hp2 others(31): Show HG00280.hp2 HG00423.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp1 HG02895.hp2 HG03688.hp1 HG04228.hp2 NA18747.hp1 NA18944.hp1 NA18977.hp2 NA18985.hp1 NA18987.hp1 NA18992.hp2 NA18998.hp1 NA19007.hp2 NA19011.hp2 NA19074.hp2 NA19075.hp1 NA19240.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0017	a0001c0001 a0002c0002 a0015c0028 others(1): Show a0001c0001 a0002c0002 a0015c0028 a0017c0027	a0001c0001t0001 a0002c0002t0002 a0002c0002t0020 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0020 a0002c0002t0022 a0002c0002t0024 a0015c0028t0002 a0017c0027t0002	a0001c0001t0001g0011 a0001c0001t0001g0149 a0002c0002t0002g0014 others(19): Show a0001c0001t0001g0011 a0001c0001t0001g0149 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0029 a0002c0002t0002g0045 a0002c0002t0002g0047 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0020g0156 a0002c0002t0022g0164 a0002c0002t0024g0191 a0015c0028t0002g0159 a0017c0027t0002g0155	34	387	0.0879	-53	c.-24 others(72): Show c.-244-1120_-244-1068delCACCCATACATACACAGACACACACA GACACCCATACACACAAAGACACACAG	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ANAPC7_chr12_110367900_110408708	110400598	TAAATCTC others(46): Show TAAATCTCCAAACGTGGAAACTGTATGCTTTGGCAAATCACTCAGAACCA AGTG	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	296	0.0034	-53	c.101 others(70): Show c.101+2876_101+2928delCACTTGGTTCTGAGTGATTTGCCAAAGC ATACAGTTTCCACGTTTGGAGATTT	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	1/10			chr12	TogoVar
ANGPT2_chr8_6494632_6568245	6505287	TTATATAC others(46): Show TTATATACATATATATGTATATAACATATATATGTTATATACATATAGAA AGAA	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0066 a0001c0007t0066	a0001c0007t0066g0271 a0001c0007t0066g0271	1	281	0.0036	-53	c.132 others(72): Show c.1328-2079_1328-2027delTTCTTTCTATATGTATATAACATATA TATGTTATATACATATATATGTATATA	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ANKRD31_chr5_75063297_75241878	75206231	AAAAAAAA others(46): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02818.hp2 HG02615.hp1 HG02818.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0053 a0003c0006t0001g0054 a0003c0006t0001g0053 a0003c0006t0001g0054	2	255	0.0078	-53	c.403 others(68): Show c.403+127_403+179delATATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206235	AAAAAAAA others(46): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp2 HG01261.hp2 others(8): Show HG00642.hp1 HG01192.hp2 HG01261.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03540.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0026 a0001c0027 a0001c0004 a0001c0026 a0001c0027	a0001c0004t0001 a0001c0026t0001 a0001c0027t0001 a0001c0004t0001 a0001c0026t0001 a0001c0027t0001	a0001c0004t0001g0009 a0001c0004t0001g0283 a0001c0004t0001g0284 others(7): Show a0001c0004t0001g0009 a0001c0004t0001g0283 a0001c0004t0001g0284 a0001c0004t0001g0287 a0001c0004t0001g0288 a0001c0004t0001g0289 a0001c0004t0001g0290 a0001c0004t0001g0295 a0001c0026t0001g0285 a0001c0027t0001g0296	11	321	0.0343	-53	c.403 others(68): Show c.403+123_403+175delATATATATATATATATATATATATATATAT ATATATATATTTTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANKRD31_chr5_75063297_75241878	75206237	AAAAAAAA others(46): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02886.hp2 HG03579.hp1 others(1): Show HG02559.hp2 HG02886.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0293 others(1): Show a0001c0004t0001g0281 a0001c0004t0001g0282 a0001c0004t0001g0293 a0001c0004t0001g0294	4	320	0.0125	-53	c.403 others(68): Show c.403+121_403+173delATATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTT	ANKRD31	ENSG00000145700.10	transcript	ENST00000506364.6	protein_coding	5/25			chr5	TogoVar
ANXA5_chr4_121662946_121701980	121665664	CCCTCCCT others(46): Show CCCTCCCTCCCTCCCGTCTTCCCTTCCTCCCTTCCTCCCTCCCTTCCTTC CTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02451.hp2 HG02615.hp2 others(4): Show HG00735.hp1 HG02451.hp2 HG02615.hp2 HG02970.hp1 HG03225.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0104 a0001c0001t0005g0105 others(1): Show a0001c0001t0005g0015 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106	7	335	0.0209	-53	c.27 others(64): Show c.2751_*2803delAAAGGAAGGAAGGGAGGGAGGAAGGGAGGAAGGG AAGACGGGAGGGAGGGAGG	ANXA5	ENSG00000164111.15	transcript	ENST00000296511.10	protein_coding		2281		chr4	TogoVar
APPL2_chr12_105168300_105241174	105186633	TATCATAT others(46): Show TATCATATATATGATATCGATATCATATATATCATATATATGATATATCA TATA	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp2 NA20129.hp1 HG03471.hp1 HG03486.hp2 NA20129.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0144 a0002c0007t0002g0145 a0002c0007t0002g0146 a0002c0007t0002g0144 a0002c0007t0002g0145 a0002c0007t0002g0146	3	390	0.0077	-53	c.163 others(72): Show c.1634+1587_1634+1639delTATATGATATATCATATATATGATAT ATATGATATCGATATCATATATATGAT	APPL2	ENSG00000136044.12	transcript	ENST00000258530.8	protein_coding	17/20			chr12	TogoVar
AQP8_chr16_25211947_25233932	25216108	CTTTCTTT others(46): Show CTTTCTTTCTTTCTTTCTTTCCTTCCTTCTTTTCTTTCTTTCTTTTTCTT TCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG02280.hp1 others(9): Show HG01167.hp2 HG01243.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03486.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0003t0003	a0001c0001t0001g0008 a0001c0001t0001g0056 a0001c0001t0001g0155 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0056 a0001c0001t0001g0155 a0001c0001t0001g0181 a0001c0001t0003g0029 a0001c0001t0003g0195 a0002c0002t0002g0024 a0002c0002t0002g0178 a0002c0003t0003g0150 a0002c0003t0003g0151	12	417	0.0288	-53	c.-93 others(62): Show c.-937_-885delTTTCTTTCTTTCTTTCTTTCCTTCCTTCTTTTCTTT CTTTCTTTTTCTTTCTT	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		838		chr16	TogoVar
ARHGEF1_chr19_41878184_41912452	41896870	CCTCTCAC others(46): Show CCTCTCACCTCCCCGCTCCTCTCTCACCTCCCCTCTCTTCTCTCACCTCC CTCT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp1 HG03209.hp2 others(2): Show HG02145.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0009 a0001c0001t0001g0116 a0001c0001t0001g0117	5	231	0.0216	-53	c.112 others(70): Show c.1121+389_1121+441delCTCTCACCTCCCCGCTCCTCTCTCACCT CCCCTCTCTTCTCTCACCTCCCTCT	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	13/28			chr19	TogoVar
ARHGEF38_chr4_105547620_105685914	105561396	AGAATAAT others(46): Show AGAATAATAGAATAGAATAGAATAGAATGGAATAGAATAGAATAGAATAG AATG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	169	0.0059	-53	c.196 others(70): Show c.196+8441_196+8493delATAGAATAGAATAGAATAGAATGGAATA GAATAGAATAGAATAGAATGGAATA	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARRB2_chr17_4705632_4726497	4717775	TGGTGTAA others(46): Show TGGTGTAAGAGGAGGCTTTCCTCCCCGCTTCCAGGAGCCCAGGCCCCGTG CGGG	T T	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	430	0.0023	-53	c.485 others(66): Show c.485+26_486-58delTGTAAGAGGAGGCTTTCCTCCCCGCTTCCAGG AGCCCAGGCCCCGTGCGGGGG	ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
ARSF_chrX_3036471_3117727	3037127	TAATATTA others(46): Show TAATATTATATATAAAATATATATAATATATATAATATATTATATATAAT ATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	191	0.0052	-53	c.-45 others(64): Show c.-4564_-4512delAATATTATATATAAAATATATATAATATATATAA TATATTATATATAATATTA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4343		chrX	TogoVar
ARSH_chrX_3001546_3039111	3037127	TAATATTA others(46): Show TAATATTATATATAAAATATATATAATATATATAATATATTATATATAAT ATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	246	0.0041	-53	c.37 others(64): Show c.3743_*3795delAATATTATATATAAAATATATATAATATATATAA TATATTATATATAATATTA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		3017		chrX	TogoVar
ASH2L_chr8_38100529_38145080	38113725	CTAAGTTA others(46): Show CTAAGTTATCAGGAGCAAGAATAGAAATCCATAAAGCAGATTTATGAGGT AATA	C C	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	328	0.0030	-53	c.586 others(68): Show c.586-464_586-412delAGTTATCAGGAGCAAGAATAGAAATCCATA AAGCAGATTTATGAGGTAATATA	ASH2L	ENSG00000129691.16	transcript	ENST00000343823.11	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASTN2_chr9_116418112_117420057	117016632	ATATATAT others(46): Show ATATATATATATATATATATATATAACCTATATATATGTTACATATATAT AGGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	100	0.0100	-53	c.142 others(72): Show c.1424-8426_1424-8374delACCTATATATATGTAACATATATATA GGTTATATATATATATATATATATATA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22			chr9	TogoVar

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