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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ABCA13_chr7_48166458_48652497	48435859	AAATCCTC others(30): Show AAATCCTCCCTTGTCATGATGTGTAATCATTTTAATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0004 a0002c0022t0004	a0002c0022t0004g0163 a0002c0022t0004g0163	1	176	0.0057	-37	c.125 others(58): Show c.12565+7990_12565+8026delATCCTCCCTTGTCATGATGTGTAA TCATTTTAATATA		ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	42/61					INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA1_chr9_104776006_104933155	104862654	CGGGCCGG others(30): Show CGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGGCCGG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0087 a0004c0087	a0004c0087t0009 a0004c0087t0009	a0004c0087t0009g0118 a0004c0087t0009g0118	1	295	0.0034	-37	c.422 others(52): Show c.422-891_422-855delCCGGCCCGGCCCGGCCCGGCCCGGCCCGGC CCGGCCC		ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49						chr9	TogoVar
ABCC1_chr16_15944616_16148053	16075987	CCTGAGAA others(30): Show CCTGAGAAGGGCCAGGGCATCGAGAGCATTGAGTAATT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp2 others(27): Show HG00280.hp1 HG00408.hp2 HG00639.hp2 HG01243.hp2 HG01261.hp1 HG02055.hp1 HG02258.hp2 HG02523.hp2 HG02723.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp2 HG03239.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18968.hp1 NA18971.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0001c0017 a0001c0032 a0004c0024 a0011c0036	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0008 a0001c0002t0018 a0001c0003t0001 a0001c0004t0002 a0001c0004t0028 a0001c0006t0002 a0001c0013t0002 a0001c0017t0002 a0001c0032t0007 a0004c0024t0021 a0011c0036t0001	a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0001t0001g0174 others(27): Show a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0001t0001g0174 a0001c0001t0004g0170 a0001c0001t0004g0240 a0001c0001t0006g0166 a0001c0001t0006g0171 a0001c0002t0001g0012 a0001c0002t0001g0080 a0001c0002t0001g0137 a0001c0002t0001g0163 a0001c0002t0001g0175 a0001c0002t0001g0221 a0001c0002t0001g0232 a0001c0002t0002g0192 a0001c0002t0007g0121 a0001c0002t0008g0162 a0001c0002t0018g0039 a0001c0003t0001g0205 a0001c0004t0002g0146 a0001c0004t0002g0201 a0001c0004t0002g0226 a0001c0004t0028g0188 a0001c0006t0002g0040 a0001c0006t0002g0053 a0001c0013t0002g0190 a0001c0017t0002g0007 a0001c0032t0007g0229 a0004c0024t0021g0003 a0011c0036t0001g0122	30	248	0.1210	-37	c.191 others(54): Show c.1913-336_1913-300delGAGAAGGGCCAGGGCATCGAGAGCATTG AGTAATTCT		ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	14/30					INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCG1_chr21_42214140_42302244	42293097	CACACGGT others(30): Show CACACGGTACACACCACACACTACACACACCACACACT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	352	0.0028	-37	c.165 others(56): Show c.1654-1440_1654-1404delGGTACACACCACACACTACACACACC ACACACTACAC		ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	13/14					INFO_REALIGN_3_PRIME	chr21	TogoVar
ABHD16A_chr6_31681955_31708324	31686015	AATACAAA others(30): Show AATACAAAAATCAACTGGGTATGGTGGCGCATACCTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0097 a0004c0008t0002g0097	1	416	0.0024	-37	c.11 others(48): Show c.1160_*1196delACAGGTATGCGCCACCATACCCAGTTGATTTTTG TAT		ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding					939		chr6	TogoVar
ABR_chr17_998519_1184981	1042313	GCTACATC others(30): Show GCTACATCCACAAACGGATGAATAAACAGACGTGGCAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp2 HG03453.hp1 others(1): Show HG02145.hp2 HG03209.hp2 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0007 a0001c0002t0042 others(1): Show a0001c0001t0008 a0001c0002t0007 a0001c0002t0042 a0001c0002t0059	a0001c0001t0008g0006 a0001c0002t0007g0295 a0001c0002t0042g0015 others(1): Show a0001c0001t0008g0006 a0001c0002t0007g0295 a0001c0002t0042g0015 a0001c0002t0059g0235	4	336	0.0119	-37	c.179 others(56): Show c.1791+7700_1791+7736delGTGCCACGTCTGTTTATTCATCCGTT TGTGGATGTAG		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22						chr17	TogoVar
ABR_chr17_998519_1184981	1143132	TGGGGGAC others(30): Show TGGGGGACAGCTCATTCCTGGGGGACAGCTCGCTCCTG	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0234 a0001c0001t0006g0234	1	336	0.0030	-37	c.62- others(54): Show c.62-17802_62-17766delCAGGAGCGAGCTGTCCCCCAGGAATGAG CTGTCCCCC		ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22						chr17	TogoVar
ABTB3_chr12_107313434_107664642	107608919	AAATAAAA others(30): Show AAATAAAATAAAATAAAATAAAATAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	186	0.0054	-37	c.164 others(56): Show c.1644-1269_1644-1233delATAAAATAAAATAAAATAAAATAAAT AAAATAAAATA		ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	4/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288261	GTCTCTGC others(30): Show GTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0006 a0007c0018t0006	a0007c0018t0006g0076 a0007c0018t0006g0076	1	280	0.0036	-37	c.52 others(48): Show c.5266_*5302delACGGGACGGAGCAGAGACTCGGGGGACGGAGCAG AGA		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					4129		chr1	TogoVar
ACMSD_chr2_134833616_134907034	134834845	GAGGGAGG others(30): Show GAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0341 a0001c0001t0001g0341	1	379	0.0026	-37	c.-38 others(48): Show c.-3837_-3801delAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGA		ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding					3770		chr2	TogoVar
ACMSD_chr2_134833616_134907034	134834861	GAAGGAAG others(30): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG02647.hp2 others(2): Show HG02109.hp1 HG02572.hp1 HG02647.hp2 HG03486.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0001c0001t0001 a0001c0004t0001 a0002c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0175 a0001c0004t0001g0170 others(2): Show a0001c0001t0001g0011 a0001c0001t0001g0175 a0001c0004t0001g0170 a0001c0004t0001g0172 a0002c0002t0001g0197	5	380	0.0132	-37	c.-38 others(48): Show c.-3821_-3785delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA AGA		ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding					3754		chr2	TogoVar
ACOT11_chr1_54543228_54615329	54599166	AAAAAAAA others(30): Show AAAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02257.hp2 HG02630.hp2 others(6): Show HG00639.hp2 HG02257.hp2 HG02630.hp2 HG02922.hp2 HG02970.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0073 a0002c0002t0003g0156 others(6): Show a0002c0002t0003g0001 a0002c0002t0003g0073 a0002c0002t0003g0156 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0173 a0002c0002t0003g0174	9	365	0.0247	-37	c.765 others(51): Show c.765-128_765-92delAAAAAAAAAAAAAAATATATATATATATATA TATATA		ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	7/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
ACOT7_chr1_6259272_6398767	6305285	TCCGGGCA others(30): Show TCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01106.hp1 others(9): Show HG00738.hp2 HG01070.hp2 HG01106.hp1 HG01256.hp2 HG01346.hp2 HG01516.hp2 NA18946.hp1 NA18962.hp2 NA18991.hp2 NA18998.hp1 NA19060.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0003g0167 others(9): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0176 a0001c0001t0003g0179 a0001c0001t0003g0180	12	237	0.0506	-37	c.713 others(56): Show c.713-10342_713-10306delCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGG		ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	6/8						chr1	TogoVar
ACOT7_chr1_6259272_6398767	6320500	GCCCCTTT others(30): Show GCCCCTTTGGTCCCGTAGCTCCATTACTTTTAATGGGT	G G	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	238	0.0042	-37	c.626 others(54): Show c.626-1959_626-1923delACCCATTAAAAGTAATGGAGCTACGGGA CCAAAGGGG		ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	5/8						chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179217878	CGGCACAC others(30): Show CGGCACACTCACTAGGTAGGGGATGGCCTGAGGGCAGA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0002 a0001c0065t0002	a0001c0065t0002g0118 a0001c0065t0002g0118	1	201	0.0050	-37	c.689 others(56): Show c.689-10200_689-10164delTCTGCCCTCAGGCCATCCCCTACCTA GTGAGTGTGCC		ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21						chr5	TogoVar
ADAMTSL3_chr15_83649123_84044842	83822461	TCTCCTCA others(30): Show TCTCCTCACTTCTCAGACGGGGCGGCCGGGCAGAGACG	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0226 a0002c0002t0001g0226	1	272	0.0037	-37	c.600 others(54): Show c.600+2423_600+2459delTTCTCAGACGGGGCGGCCGGGCAGAGAC GCTCCTCAC		ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	6/29					INFO_REALIGN_3_PRIME	chr15	TogoVar
ADARB1_chr21_45069580_45231560	45194422	GTACTCTG others(30): Show GTACTCTGCCTGTTCACCCCCTCTCACCTCCTAACCTC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG01167.hp2 others(57): Show HG00408.hp2 HG00673.hp1 HG01167.hp2 HG01192.hp2 HG01261.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp1 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03130.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG04204.hp1 NA18612.hp2 NA18943.hp2 NA18944.hp1 NA18951.hp1 NA18953.hp1 NA18957.hp1 NA18970.hp2 NA18973.hp2 NA18980.hp2 NA18983.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19055.hp2 NA19063.hp1 NA19074.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0002c0016	a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(30): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0001t0016 a0001c0001t0019 a0001c0001t0103 a0001c0001t0105 a0001c0001t0118 a0001c0002t0004 a0001c0002t0018 a0001c0002t0020 a0001c0002t0021 a0001c0002t0025 a0001c0002t0037 a0001c0002t0039 a0001c0002t0048 a0001c0002t0054 a0001c0002t0060 a0001c0002t0069 a0001c0002t0071 a0001c0002t0094 a0001c0002t0098 a0001c0002t0101 a0001c0002t0106 a0001c0002t0107 a0001c0002t0108 a0001c0002t0117 a0001c0002t0119 a0001c0002t0125 a0001c0004t0026 a0001c0004t0029 a0001c0008t0028 a0002c0016t0072	a0001c0001t0002g0235 a0001c0001t0006g0282 a0001c0001t0009g0001 others(55): Show a0001c0001t0002g0235 a0001c0001t0006g0282 a0001c0001t0009g0001 a0001c0001t0009g0141 a0001c0001t0009g0143 a0001c0001t0016g0291 a0001c0001t0019g0146 a0001c0001t0019g0150 a0001c0001t0019g0171 a0001c0001t0103g0144 a0001c0001t0105g0157 a0001c0001t0118g0147 a0001c0002t0004g0137 a0001c0002t0004g0139 a0001c0002t0004g0140 a0001c0002t0004g0142 a0001c0002t0004g0145 a0001c0002t0004g0152 a0001c0002t0004g0153 a0001c0002t0004g0158 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0163 a0001c0002t0004g0164 a0001c0002t0004g0174 a0001c0002t0018g0042 a0001c0002t0018g0043 a0001c0002t0018g0044 a0001c0002t0020g0162 a0001c0002t0021g0154 a0001c0002t0021g0155 a0001c0002t0021g0156 a0001c0002t0025g0167 a0001c0002t0025g0168 a0001c0002t0037g0149 a0001c0002t0037g0170 a0001c0002t0039g0172 a0001c0002t0039g0173 a0001c0002t0048g0045 a0001c0002t0054g0121 a0001c0002t0060g0033 a0001c0002t0069g0234 a0001c0002t0071g0041 a0001c0002t0094g0032 a0001c0002t0098g0046 a0001c0002t0101g0166 a0001c0002t0106g0151 a0001c0002t0107g0138 a0001c0002t0108g0161 a0001c0002t0117g0148 a0001c0002t0119g0169 a0001c0002t0125g0191 a0001c0004t0026g0103 a0001c0004t0029g0099 a0001c0004t0029g0338 a0001c0008t0028g0100 a0001c0008t0028g0101 a0002c0016t0072g0047	60	348	0.1724	-37	c.156 others(56): Show c.1565+9351_1565+9387delCTCTCACCTCCTAACCTCTACTCTGC CTGTTCACCCC		ADARB1	ENSG00000197381.18	transcript	ENST00000348831.9	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr21	TogoVar
ADARB2_chr10_1172313_1742525	1214224	AGGTTTGC others(30): Show AGGTTTGCACCTGTGCCTGGACCTGCCAGCGTTGCATG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0033 a0001c0007t0033	a0001c0007t0033g0041 a0001c0007t0033g0041	1	106	0.0094	-37	c.168 others(56): Show c.1682+2690_1682+2726delCATGCAACGCTGGCAGGTCCAGGCAC AGGTGCAAACC		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	7/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1409188	ACCCGCCC others(30): Show ACCCGCCCTGCCTGACAGCGGGCTCCCACCTTCGTCGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00639.hp1 others(26): Show HG00408.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG01081.hp1 HG01433.hp2 HG01934.hp1 HG02040.hp1 HG02080.hp2 HG02615.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG04184.hp2 NA18967.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18995.hp2 NA18998.hp2 NA19043.hp2 NA19070.hp2 NA19086.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0003c0006 a0005c0010	a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 others(24): Show a0001c0001t0003 a0001c0001t0013 a0001c0001t0015 a0001c0001t0035 a0001c0001t0036 a0001c0001t0052 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0003t0001 a0001c0003t0032 a0001c0003t0039 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0027 a0002c0002t0042 a0002c0002t0046 a0002c0002t0065 a0002c0004t0005 a0003c0006t0003 a0003c0006t0067 a0005c0010t0006	a0001c0001t0003g0097 a0001c0001t0013g0007 a0001c0001t0015g0005 others(26): Show a0001c0001t0003g0097 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0035g0079 a0001c0001t0036g0072 a0001c0001t0052g0062 a0001c0001t0054g0083 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0001t0058g0099 a0001c0001t0059g0092 a0001c0003t0001g0052 a0001c0003t0032g0071 a0001c0003t0039g0044 a0002c0002t0002g0075 a0002c0002t0004g0084 a0002c0002t0004g0095 a0002c0002t0006g0018 a0002c0002t0006g0019 a0002c0002t0007g0004 a0002c0002t0008g0047 a0002c0002t0027g0021 a0002c0002t0042g0061 a0002c0002t0046g0056 a0002c0002t0065g0086 a0002c0004t0005g0029 a0003c0006t0003g0090 a0003c0006t0067g0080 a0005c0010t0006g0014	29	106	0.2736	-37	c.101 others(56): Show c.101-30065_101-30029delGCGACGAAGGTGGGAGCCCGCTGTCA GGCAGGGCGGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1653609	GCCTTCTG others(30): Show GCCTTCTGTGCCTGCAGAGCCGCAGTGTCCACCCAACA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0068 a0002c0002t0048g0068	1	106	0.0094	-37	c.100 others(56): Show c.100+83405_100+83441delTGTTGGGTGGACACTGCGGCTCTGCA GGCACAGAAGG		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9						chr10	TogoVar
ADGRB3_chr6_68630282_69394506	68772885	AAAAAAAA others(30): Show AAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03098.hp2 HG01884.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0105 a0001c0002t0001g0041 a0001c0001t0005g0105 a0001c0002t0001g0041	2	112	0.0179	-37	c.757 others(58): Show c.757+133455_757+133491delAAAAAAAAATATATATATATATAT ATATATATATATA		ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31					INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69121571	ACCTCACT others(30): Show ACCTCACTTCCCAGATGGGGCAGCGGGACAGAGGCGCT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0010	1	118	0.0085	-37	c.248 others(58): Show c.2480+45568_2480+45604delGCTCCTCACTTCCCAGATGGGGCA GCGGGACAGAGGC		ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31					INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRE2_chr19_14727392_14783560	14749815	TTATTCAT others(30): Show TTATTCATAGTTACATAATTATTTATAGCTATGTTATG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01243.hp2 HG01346.hp2 others(10): Show HG00140.hp2 HG01243.hp2 HG01346.hp2 HG01433.hp1 HG01981.hp1 HG02109.hp1 HG02976.hp2 HG03471.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG06807.hp1 NA19030.hp1	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0018 a0021	a0001c0009 a0002c0005 a0009c0040 others(2): Show a0001c0009 a0002c0005 a0009c0040 a0018c0027 a0021c0031	a0001c0009t0017 a0001c0009t0021 a0002c0005t0010 others(5): Show a0001c0009t0017 a0001c0009t0021 a0002c0005t0010 a0002c0005t0017 a0002c0005t0021 a0009c0040t0010 a0018c0027t0033 a0021c0031t0053	a0001c0009t0017g0127 a0001c0009t0017g0136 a0001c0009t0021g0008 others(10): Show a0001c0009t0017g0127 a0001c0009t0017g0136 a0001c0009t0021g0008 a0002c0005t0010g0089 a0002c0005t0010g0091 a0002c0005t0010g0093 a0002c0005t0010g0094 a0002c0005t0010g0097 a0002c0005t0017g0189 a0002c0005t0021g0004 a0009c0040t0010g0085 a0018c0027t0033g0060 a0021c0031t0053g0137	13	216	0.0602	-37	c.202 others(56): Show c.2024+1584_2024+1620delCATAACATAGCTATAAATAATTATGT AACTATGAATA		ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	16/20						chr19	TogoVar
ADGRL3_chr4_61195326_62083335	61847889	AAATATAT others(30): Show AAATATATTATATATAATATAAAATATATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0030 a0001c0003t0003g0030	1	56	0.0179	-37	c.148 others(58): Show c.1480+34007_1480+34043delTTATATATAATATAAAATATATTA TATATATAATATA		ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
ADPRH_chr3_119574492_119594945	119594403	AAAAAAAA others(30): Show AAAAAAAAGAAAAGAAAGAAAGAGAGAAAGAAAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	452	0.0022	-37	c.65 others(48): Show c.6526_*6562delAAAAAAAGAAAAGAAAGAAAGAGAGAAAGAAAGA AAG		ADPRH	ENSG00000144843.12	transcript	ENST00000357003.8	protein_coding					4459		chr3	TogoVar
ADRA1B_chr5_159911482_159978012	159974248	TATTGCAA others(30): Show TATTGCAAATGCCTTCCTCATGACATTCTTACAACTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	382	0.0026	-37	c.17 others(48): Show c.1757_*1793delATTGCAAATGCCTTCCTCATGACATTCTTACAAC TTG		ADRA1B	ENSG00000170214.5	transcript	ENST00000306675.5	protein_coding					1237		chr5	TogoVar
AFF1_chr4_86930011_87146039	86995289	CCCCTCTC others(30): Show CCCCTCTCCCTCCCTCCCCCTCTCCCCACGGTCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18998.hp2 NA19070.hp2 NA18964.hp2 NA18998.hp2 NA19070.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0004 a0004c0012t0004 a0001c0001t0004 a0004c0012t0004	a0001c0001t0004g0124 a0004c0012t0004g0122 a0004c0012t0004g0123 a0001c0001t0004g0124 a0004c0012t0004g0122 a0004c0012t0004g0123	3	292	0.0103	-37	c.38+ others(54): Show c.38+46720_38+46756delCCTCTCCCTCCCTCCCCCTCTCCCCACG GTCTCCCTC		AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr4	TogoVar
AGAP4_chr10_45820594_45852500	45847508	TGGCCCTG others(30): Show TGGCCCTGGCCCCGGCCCCGGCTAGGGCTGCGGGCCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01167.hp2 HG01192.hp2 others(11): Show HG01069.hp1 HG01167.hp2 HG01192.hp2 HG01884.hp1 HG01891.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02896.hp2 HG02970.hp2 HG02976.hp2 HG03453.hp2 HG03471.hp2 NA21309.hp2	a0004 a0020 a0004 a0020	a0004c0005 a0020c0032 a0004c0005 a0020c0032	a0004c0005t0001 a0020c0032t0001 a0004c0005t0001 a0020c0032t0001	a0004c0005t0001g0014 a0004c0005t0001g0015 a0004c0005t0001g0030 others(8): Show a0004c0005t0001g0014 a0004c0005t0001g0015 a0004c0005t0001g0030 a0004c0005t0001g0056 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0060 a0004c0005t0001g0061 a0004c0005t0001g0062 a0004c0005t0001g0192 a0020c0032t0001g0059	14	364	0.0385	-37	c.-19 others(46): Show c.-198_-162delTTGGCCCGCAGCCCTAGCCGGGGCCGGGGCCAGGGC C		AGAP4	ENSG00000188234.15	transcript	ENST00000616763.6	protein_coding					9		chr10	TogoVar
AGMO_chr7_15195317_15567015	15531415	TTCTATAT others(30): Show TTCTATATATATTCTATATATATATTCTATATATATTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	234	0.0043	-37	c.409 others(56): Show c.409+13320_409+13356delGAATATATATAGAATATATATATAGA ATATATATAGA		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12						chr7	TogoVar
AGO2_chr8_140515156_140640633	140595844	TATTATAT others(30): Show TATTATATTTATATTATATACAATTGTATATTATATAA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0334 a0001c0003t0012g0334	1	336	0.0030	-37	c.23- others(54): Show c.23-10570_23-10534delTTATATAATATACAATTGTATATAATAT AAATATAAT		AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18						chr8	TogoVar
AGTPBP1_chr9_85541539_85746954	85712401	ACTTAAAC others(30): Show ACTTAAACACAAATAATACTTTGTCAAGTATTGAGTTT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	300	0.0033	-37	c.32+ others(49): Show c.32+64_32+100delAAACTCAATACTTGACAAAGTATTATTTGTGTT TAAG		AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	2/25						chr9	TogoVar
AHCY_chr20_34275268_34308355	34306654	CCACCACG others(30): Show CCACCACGCCCAGCCAGGTTCTTTTAATGGATGAACAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	298	0.0034	-37	c.-34 others(48): Show c.-3421_-3385delCTGTTCATCCATTAAAAGAACCTGGCTGGGCGTG GTG		AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding					3300		chr20	TogoVar
AHRR_chr5_316714_443285	397279	GTTAGCCC others(30): Show GTTAGCCCCTGACCATGTTAGCCCCTGACCATCCCTGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	266	0.0038	-37	c.352 others(56): Show c.352-16063_352-16027delTAGCCCCTGACCATGTTAGCCCCTGA CCATCCCTGTT		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AIG1_chr6_143055889_143346058	143171465	TTTAATAT others(30): Show TTTAATATATATAATATATATTAAATATATAATATATA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp1 HG02970.hp2 others(3): Show HG01884.hp2 HG02965.hp1 HG02970.hp2 HG03516.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 others(3): Show a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0004g0096	6	202	0.0297	-37	c.399 others(54): Show c.399+6285_399+6321delAATATATATAATATATATTAAATATATA ATATATATT		AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
AIM2_chr1_159057484_159081766	159068603	GCTTTGCG others(30): Show GCTTTGCGACATCATTTCTGATGGCTGCAGATGCAGCA	G G	frameshift_variant frameshift_variant	HIGH	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0157 a0003c0006t0002g0157	1	392	0.0026	-37	c.324 others(44): Show c.324_360delTGCTGCATCTGCAGCCATCAGAAATGATGTCGCAAAG	p.Ala others(5): Show p.Ala109fs	AIM2	ENSG00000163568.16	transcript	ENST00000368130.9	protein_coding	3/6	514/1394	324/1032	108/343			chr1	TogoVar
AK5_chr1_77277019_77564966	77475398	AATATATA others(30): Show AATATATATGTATATATATACTATATATTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01993.hp2 HG02071.hp1 others(28): Show HG00438.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02258.hp2 HG02559.hp1 HG02723.hp2 HG02965.hp1 HG03540.hp2 NA18940.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18973.hp2 NA18992.hp1 NA19000.hp1 NA19002.hp2 NA19011.hp2 NA19043.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19074.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0028 a0001c0003t0004 a0002c0002t0002 a0002c0002t0008 a0002c0006t0008	a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 others(28): Show a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0075 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0280 a0001c0001t0003g0154 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0174 a0001c0001t0003g0178 a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0284 a0001c0001t0004g0093 a0001c0001t0028g0185 a0001c0003t0004g0257 a0002c0002t0002g0050 a0002c0002t0002g0052 a0002c0002t0002g0226 a0002c0002t0002g0276 a0002c0002t0008g0278 a0002c0006t0008g0086	31	178	0.1742	-37	c.106 others(56): Show c.1060-7918_1060-7882delATATATATGTATATATATACTATATA TTATATATATG		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13						chr1	TogoVar
AK6_chr5_69345984_69374520	69368562	TTGTGGGG others(30): Show TTGTGGGGTGGTTAATCTGCACCTCTCAGAAACAGACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG01884.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0196 a0001c0001t0002g0197	2	420	0.0048	-37	c.28+ others(50): Show c.28+864_28+900delTGTCTGTTTCTGAGAGGTGCAGATTAACCACC CCACA		AK6	ENSG00000085231.14	transcript	ENST00000380822.9	protein_coding	1/4						chr5	TogoVar
AKAP8_chr19_15348385_15384787	15363034	TCTCTGCC others(30): Show TCTCTGCCTGGCCGCCCTGTCTGAGAAGTGAGGAGACC	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	284	0.0035	-37	c.116 others(54): Show c.1161-820_1161-784delGGTCTCCTCACTTCTCAGACAGGGCGGC CAGGCAGAG		AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	9/13						chr19	TogoVar
AKAP9_chr7_91935862_92115673	92027362	CGTCTGGG others(30): Show CGTCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0228 a0002c0002t0002g0228	1	304	0.0033	-37	c.414 others(56): Show c.4149-2526_4149-2490delGATGTGAGGAGCGCCTCTGCCCGGCC GCCCTGTCTGG		AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	14/49					INFO_REALIGN_3_PRIME	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92027597	AGTGAGGA others(30): Show AGTGAGGAGCGCCTCTGCCTGGCCGCCCCGTCTGGGAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00642.hp1 others(97): Show HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18979.hp2 NA18991.hp2 NA18992.hp1 NA19001.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19082.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0011 a0013	a0002c0002 a0002c0003 a0002c0009 others(10): Show a0002c0002 a0002c0003 a0002c0009 a0002c0012 a0002c0013 a0002c0030 a0002c0031 a0002c0032 a0002c0034 a0003c0015 a0006c0007 a0011c0014 a0013c0033	a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 others(11): Show a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0009t0002 a0002c0012t0002 a0002c0013t0002 a0002c0030t0002 a0002c0031t0002 a0002c0032t0002 a0002c0034t0002 a0003c0015t0001 a0006c0007t0002 a0011c0014t0002 a0013c0033t0002	a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 others(97): Show a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0003g0260 a0002c0002t0003g0263 a0002c0002t0003g0268 a0002c0003t0002g0212 a0002c0003t0002g0240 a0002c0003t0002g0288 a0002c0003t0002g0289 a0002c0003t0002g0290 a0002c0003t0002g0291 a0002c0003t0002g0292 a0002c0003t0002g0293 a0002c0003t0002g0294 a0002c0003t0002g0295 a0002c0003t0002g0296 a0002c0003t0002g0301 a0002c0009t0002g0207 a0002c0009t0002g0209 a0002c0009t0002g0210 a0002c0012t0002g0217 a0002c0012t0002g0218 a0002c0013t0002g0211 a0002c0030t0002g0283 a0002c0031t0002g0229 a0002c0032t0002g0278 a0002c0034t0002g0277 a0003c0015t0001g0001 a0006c0007t0002g0287 a0006c0007t0002g0302 a0006c0007t0002g0303 a0006c0007t0002g0304 a0011c0014t0002g0208 a0013c0033t0002g0239	100	304	0.3289	-37	c.414 others(56): Show c.4149-2198_4149-2162delCCCGTCTGGGATGTGAGGAGCGCCTC TGCCTGGCCGC		AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	14/49					INFO_REALIGN_3_PRIME	chr7	TogoVar
AKT1_chr14_104764349_104800748	104776067	CCAGCAGG others(30): Show CCAGCAGGACTCCGCCCCCCCCAAGCAGGACTCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01943.hp2 HG02451.hp1 others(10): Show HG01255.hp1 HG01943.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02723.hp1 HG02976.hp2 HG03130.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 NA18906.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0045 a0001c0001t0004g0114 a0001c0001t0004g0177 others(9): Show a0001c0001t0004g0045 a0001c0001t0004g0114 a0001c0001t0004g0177 a0001c0001t0004g0197 a0001c0001t0004g0205 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0239 a0001c0001t0004g0275 a0001c0001t0004g0279 a0001c0001t0004g0297 a0001c0001t0012g0273	13	384	0.0339	-37	c.288 others(52): Show c.288-305_288-269delAGGCGGAGTCCTGCTTGGGGGGGGCGGAGT CCTGCTG		AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	5/14						chr14	TogoVar
ALDH16A1_chr19_49448225_49476050	49461514	CTCCTGGG others(30): Show CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCCAGAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02257.hp2 others(8): Show HG01884.hp1 HG01884.hp2 HG02257.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG03041.hp2 HG03195.hp2 HG03471.hp2 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0015 a0001c0001 a0001c0014 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0014t0001 a0001c0014t0007 a0001c0015t0001 a0001c0015t0003	a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0003g0075 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0003g0075 a0001c0001t0005g0013 a0001c0001t0006g0077 a0001c0014t0001g0076 a0001c0014t0007g0074 a0001c0015t0001g0078 a0001c0015t0003g0079	11	306	0.0359	-37	c.578 others(50): Show c.578-76_578-40delGGTCCAGATTCCTGGGTCTGAGGGAGGAGGGG CTGGG		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49463389	AGATTCCT others(30): Show AGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	324	0.0031	-37	c.109 others(54): Show c.1099-462_1099-426delTTCCTGGGTCTGAGGGAGGAGGGGCTGG GGGCCTGGA		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49463717	CAGACTCC others(30): Show CAGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	340	0.0029	-37	c.109 others(54): Show c.1099-136_1099-100delAGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGGGCCT		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16						chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49463718	AGACTCCT others(30): Show AGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0059 a0002c0007t0003g0059	1	339	0.0029	-37	c.109 others(53): Show c.1099-103_1099-67delGCCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGG		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH16A1_chr19_49448225_49476050	49463751	GCCTGGAC others(30): Show GCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02155.hp1 HG02074.hp2 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	2	340	0.0059	-37	c.109 others(52): Show c.1099-98_1099-62delGACTCCTGGGTCTGAGGGAGGAGGGGCTGG GGTCCTG		ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH1L2_chr12_105014790_105089458	105035930	TTATATGT others(30): Show TTATATGTGTATATATATTATATATATACGTATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02486.hp1 others(5): Show HG02055.hp2 HG02257.hp1 HG02486.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp2 HG06807.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0001 a0001c0002t0007g0067 a0001c0002t0007g0068 others(2): Show a0001c0002t0007g0001 a0001c0002t0007g0067 a0001c0002t0007g0068 a0001c0002t0007g0069 a0001c0002t0007g0070	8	384	0.0208	-37	c.214 others(56): Show c.2146-1569_2146-1533delTAAATATACGTATATATATAATATAT ATACACATATA		ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22						chr12	TogoVar
ALKBH8_chr11_107497727_107570735	107570314	TCTGGACG others(30): Show TCTGGACGTCCAGCCGCTTGTGTGTCTGCCTGCTAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18978.hp1 NA18967.hp2 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0054 a0001c0002t0001g0055	2	398	0.0050	-37	c.-47 others(48): Show c.-4757_-4721delCCCTAGCAGGCAGACACACAAGCGGCTGGACGTC CAG		ALKBH8	ENSG00000137760.15	transcript	ENST00000428149.7	protein_coding					4580		chr11	TogoVar
ALPP_chr2_232373751_232387889	232385064	GGAAGAAG others(30): Show GGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 NA19065.hp1 HG00323.hp2 NA19065.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0003 a0003c0003t0002g0006 a0003c0003t0002g0003 a0003c0003t0002g0006	2	356	0.0056	-37	c.32 others(48): Show c.3270_*3306delGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAA GAA		ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding					2176		chr2	TogoVar
AMFR_chr16_56356452_56430545	56428392	CTAAATCT others(30): Show CTAAATCTAGCAGAGAGAAAAATAACCAACTCTTCAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	354	0.0028	-37	c.-31 others(48): Show c.-3102_-3066delCTTGAAGAGTTGGTTATTTTTCTCTCTGCTAGAT TTA		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding					2848		chr16	TogoVar

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