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
ADGRL3_chr4_61195326_62083335	61432570	CTTCCTTT others(27): Show CTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03017.hp1 HG02809.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0001 a0001c0001t0038	a0001c0001t0001g0049 a0001c0001t0038g0007 a0001c0001t0001g0049 a0001c0001t0038g0007	2	40	0.0500	-34	c.-17 others(55): Show c.-174+49383_-174+49416delTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTT	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRV1_chr5_90553797_91169437	90659675	CTTTTTCT others(27): Show CTTTTTCTGTTACACACATGTATATATAAGGCTGG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0054 a0054	a0054c0048 a0054c0048	a0054c0048t0003 a0054c0048t0003	a0054c0048t0003g0065 a0054c0048t0003g0065	1	156	0.0064	-34	c.475 others(53): Show c.4752+1398_4752+1431delTTTTTCTGTTACACACATGTATATAT AAGGCTGG	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	21/89			chr5	TogoVar
ADH1B_chr4_99299971_99326401	99305561	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03579.hp1 HG03139.hp1 HG03195.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0019 a0001c0010t0019 a0001c0001t0019 a0001c0010t0019	a0001c0001t0019g0022 a0001c0010t0019g0040 a0001c0001t0019g0022 a0001c0010t0019g0040	3	57	0.0526	-34	c.22 others(45): Show c.2245_*2278delTATATATATATATATATATATATATATATATATA	ADH1B	ENSG00000196616.15	transcript	ENST00000305046.13	protein_coding	9/9	2245		chr4	TogoVar
ADH1C_chr4_99331497_99357746	99338412	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	358	0.0028	-34	c.110 others(53): Show c.1103+1131_1103+1164delGTATATATATATATATATATATATAT ATATATAT	ADH1C	ENSG00000248144.6	transcript	ENST00000515683.6	protein_coding	8/8			chr4	TogoVar
ADH1C_chr4_99331497_99357746	99352511	TTCTAATT others(27): Show TTCTAATTTAGATATGAATTTTAAATTATTCATCA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG00735.hp2 others(20): Show HG00609.hp2 HG00642.hp2 HG00735.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp2 HG01978.hp2 HG01993.hp1 HG02257.hp1 HG03579.hp1 HG03654.hp2 HG04228.hp2 NA18944.hp1 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp2 NA18999.hp2 NA19005.hp1 NA19082.hp2 NA19086.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0007 a0002c0004t0002g0008 a0002c0004t0002g0039 others(4): Show a0002c0004t0002g0007 a0002c0004t0002g0008 a0002c0004t0002g0039 a0002c0004t0002g0040 a0002c0004t0002g0041 a0002c0004t0002g0042 a0002c0004t0002g0043	23	358	0.0642	-34	c.18+ others(47): Show c.18+113_18+146delTGATGAATAATTTAAAATTCATATCTAAATTA GA	ADH1C	ENSG00000248144.6	transcript	ENST00000515683.6	protein_coding	1/8			chr4	TogoVar
ADH4_chr4_99118658_99149297	99130322	AGGTTATA others(27): Show AGGTTATAAAATCTTTCTACAGCTTCCAGTCAGGT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	336	0.0030	-34	c.843 others(51): Show c.843+1148_843+1181delACCTGACTGGAAGCTGTAGAAAGATTTT ATAACC	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding	6/8			chr4	TogoVar
ADIPOR1_chr1_202935832_202963312	202958227	CTACATCC others(27): Show CTACATCCCGCGGCGCTGGAGGCGGCCTGCGGCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0173 a0001c0001t0015g0173	1	440	0.0023	-34	c.-17 others(43): Show c.-171_-138delCGGCCGCAGGCCGCCTCCAGCGCCGCGGGATGTA	ADIPOR1	ENSG00000159346.13	transcript	ENST00000340990.10	protein_coding	1/8	7158		chr1	TogoVar
ADK_chr10_74146221_74714290	74300254	CCTTGTTT others(27): Show CCTTGTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	169	0.0059	-34	c.195 others(53): Show c.195-14412_195-14379delCTTGTTTCCTTCCTTCCTTCCTTCCT TCCTTCCT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10			chr10	TogoVar
ADORA2B_chr17_15940130_15980746	15976094	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	322	0.0031	-34	c.75 others(43): Show c.753_*786delAAAAATATATATATATATATATATATATATATAT	ADORA2B	ENSG00000170425.4	transcript	ENST00000304222.3	protein_coding		349		chr17	TogoVar
ADPRHL1_chr13_113394611_113458488	113449146	TTCAGAGA others(27): Show TTCAGAGAGGCTCACCCGGAAGGAGGCAGCCCCAG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp2 HG02559.hp2 others(3): Show HG00280.hp1 HG01496.hp2 HG02559.hp2 HG02615.hp2 HG03486.hp1 HG03654.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0006 a0002c0007 others(2): Show a0001c0001 a0002c0006 a0002c0007 a0002c0018 a0004c0009	a0001c0001t0001 a0002c0006t0013 a0002c0007t0094 others(2): Show a0001c0001t0001 a0002c0006t0013 a0002c0007t0094 a0002c0018t0026 a0004c0009t0104	a0001c0001t0001g0212 a0001c0001t0001g0214 a0002c0006t0013g0213 others(3): Show a0001c0001t0001g0212 a0001c0001t0001g0214 a0002c0006t0013g0213 a0002c0007t0094g0008 a0002c0018t0026g0009 a0004c0009t0104g0211	6	259	0.0232	-34	c.214 others(51): Show c.214+4044_214+4077delCTGGGGCTGCCTCCTTCCGGGTGAGCCT CTCTGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	1/7			chr13	TogoVar
ADSS1_chr14_104719229_104752310	104720409	CCTCGTGT others(27): Show CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0139 a0001c0001t0001g0147	2	398	0.0050	-34	c.-38 others(45): Show c.-3861_-3828delCTCGTGTGGATGCTGCTGTGGACGTCTGCGTAGT	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3819		chr14	TogoVar
ADSS1_chr14_104719229_104752310	104720822	CCTCGTGT others(27): Show CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	400	0.0025	-34	c.-34 others(45): Show c.-3448_-3415delCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3406		chr14	TogoVar
AFAP1_chr4_7753714_7944861	7840271	TGTGTGTG others(27): Show TGTGTGTGTGTGTGTGTTCCTGGTTTGTTTTTGGG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0211 a0001c0004t0006g0211	1	316	0.0032	-34	c.547 others(51): Show c.547-1602_547-1569delCCCAAAAACAAACCAGGAACACACACAC ACACAC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	5/17			chr4	TogoVar
AFAP1_chr4_7753714_7944861	7861931	GAGCCTCG others(27): Show GAGCCTCGTAATGTCATCTGTGAAACAGAGATAAC	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	316	0.0032	-34	c.226 others(51): Show c.226-6391_226-6358delGTTATCTCTGTTTCACAGATGACATTAC GAGGCT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	3/17			chr4	TogoVar
AFF1_chr4_86930011_87146039	87022560	ATATATAT others(27): Show ATATATATATATATATATATATATCTATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00741.hp1 HG01069.hp1 others(14): Show HG00323.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01192.hp2 HG01496.hp2 HG01981.hp1 HG02257.hp2 HG02738.hp2 HG03669.hp2 HG03834.hp1 HG03942.hp2 NA20300.hp1 NA20905.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0010 a0011c0022 a0001c0001 a0001c0010 a0011c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024 a0001c0001t0057 a0001c0010t0006 a0001c0010t0053 a0011c0022t0006	a0001c0001t0001g0079 a0001c0001t0002g0074 a0001c0001t0006g0075 others(14): Show a0001c0001t0001g0079 a0001c0001t0002g0074 a0001c0001t0006g0075 a0001c0001t0006g0076 a0001c0001t0006g0077 a0001c0001t0006g0078 a0001c0001t0006g0080 a0001c0001t0006g0088 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0007g0083 a0001c0001t0024g0082 a0001c0001t0024g0087 a0001c0001t0057g0084 a0001c0010t0006g0085 a0001c0010t0053g0086 a0011c0022t0006g0089	17	289	0.0588	-34	c.39- others(51): Show c.39-23602_39-23569delATATATATATATATATATATCTATCTAT ATCTAT	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF1_chr4_86930011_87146039	87022570	ATATATAT others(27): Show ATATATATATATATCTATCTATATCTATCTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG04115.hp1 NA18747.hp1 others(2): Show HG02273.hp1 HG04115.hp1 NA18747.hp1 NA18960.hp1 NA19070.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0012 a0001c0001 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0004c0012t0004	a0001c0001t0001g0221 a0001c0001t0002g0226 a0001c0001t0002g0263 others(2): Show a0001c0001t0001g0221 a0001c0001t0002g0226 a0001c0001t0002g0263 a0001c0001t0004g0215 a0004c0012t0004g0122	5	289	0.0173	-34	c.39- others(51): Show c.39-23586_39-23553delATATCTATCTATATCTATCTGTGTGTAT ATATAT	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AFG3L2_chr18_12323944_12382227	12331808	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp2 others(158): Show HG00099.hp1 HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0003t0003 a0003c0006t0002	a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0067 others(146): Show a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0095 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0019 a0001c0002t0003g0110 a0001c0002t0003g0188 a0001c0002t0003g0195 a0001c0002t0003g0196 a0001c0002t0003g0197 a0001c0002t0003g0208 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0003g0274 a0001c0002t0003g0275 a0001c0002t0003g0276 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0284 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0287 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0003g0306 a0001c0002t0003g0307 a0001c0002t0003g0308 a0001c0002t0003g0309 a0001c0002t0003g0310 a0001c0002t0003g0311 a0001c0002t0003g0312 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0315 a0001c0002t0003g0316 a0001c0002t0003g0325 a0001c0002t0003g0326 a0001c0002t0003g0328 a0001c0002t0003g0329 a0001c0002t0003g0330 a0001c0002t0003g0331 a0001c0002t0003g0332 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0003g0340 a0001c0002t0003g0341 a0001c0002t0003g0343 a0001c0002t0003g0344 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0084 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0003t0003g0296 a0003c0006t0002g0106	161	170	0.9471	-34	c.217 others(53): Show c.2176-2059_2176-2026delATATATATATATATATATATATATAT ATATATAT	AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	16/16			chr18	TogoVar
AGAP1_chr2_235489043_236136793	235597725	GTGTGTGG others(27): Show GTGTGTGGAGCGTGCACGCGCTCCCGTGTTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02630.hp2 HG02809.hp2 HG01358.hp1 HG02630.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0002t0032 a0001c0011t0036 a0001c0002t0001 a0001c0002t0032 a0001c0011t0036	a0001c0002t0001g0030 a0001c0002t0032g0051 a0001c0011t0036g0009 a0001c0002t0001g0030 a0001c0002t0032g0051 a0001c0011t0036g0009	3	90	0.0333	-34	c.163 others(55): Show c.163+103046_163+103079delTTGTGTGGAGCGTGCACGCGCTCC CGTGTTTCCT	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235677906	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp2 HG02723.hp1 others(1): Show HG02145.hp1 HG02622.hp2 HG02723.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0002 a0001c0002t0043 a0001c0008t0001 others(1): Show a0001c0001t0002 a0001c0002t0043 a0001c0008t0001 a0001c0008t0028	a0001c0001t0002g0070 a0001c0002t0043g0064 a0001c0008t0001g0061 others(1): Show a0001c0001t0002g0070 a0001c0002t0043g0064 a0001c0008t0001g0061 a0001c0008t0028g0029	4	5	0.8000	-34	c.164 others(53): Show c.164-31255_164-31222delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGBL1_chr15_86074871_86921156	86113223	TTTTCTTT others(27): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG02965.hp2 others(4): Show HG01884.hp2 HG02717.hp1 HG02965.hp2 HG03579.hp1 NA19030.hp1 NA20129.hp1 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0056 a0003c0011 others(1): Show a0001c0001 a0001c0056 a0003c0011 a0004c0031	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0056t0031 a0003c0011t0003 a0003c0011t0022 a0004c0031t0015	a0001c0001t0001g0111 a0001c0001t0005g0110 a0001c0001t0009g0103 others(4): Show a0001c0001t0001g0111 a0001c0001t0005g0110 a0001c0001t0009g0103 a0001c0056t0031g0055 a0003c0011t0003g0109 a0003c0011t0022g0052 a0004c0031t0015g0108	7	132	0.0530	-34	c.52- others(51): Show c.52-28773_52-28740delTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTCTTT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86827335	ATATGTGT others(27): Show ATATGTGTATATATATATATATATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01243.hp2 HG01346.hp2 others(8): Show HG00423.hp1 HG01243.hp2 HG01346.hp2 HG02145.hp2 HG02698.hp1 HG02735.hp1 HG03209.hp1 NA18522.hp1 NA18747.hp1 NA18943.hp2 NA20129.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0006 a0001c0007 others(7): Show a0001c0002 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0013 a0001c0056 a0002c0005 a0002c0018 a0006c0058	a0001c0002t0016 a0001c0006t0036 a0001c0007t0038 others(7): Show a0001c0002t0016 a0001c0006t0036 a0001c0007t0038 a0001c0010t0015 a0001c0012t0042 a0001c0013t0005 a0001c0056t0031 a0002c0005t0050 a0002c0018t0001 a0006c0058t0010	a0001c0002t0016g0001 a0001c0002t0016g0004 a0001c0006t0036g0082 others(8): Show a0001c0002t0016g0001 a0001c0002t0016g0004 a0001c0006t0036g0082 a0001c0007t0038g0129 a0001c0010t0015g0009 a0001c0012t0042g0063 a0001c0013t0005g0118 a0001c0056t0031g0055 a0002c0005t0050g0037 a0002c0018t0001g0074 a0006c0058t0010g0053	11	125	0.0880	-34	c.315 others(55): Show c.3159-79748_3159-79715delGTGTATATATATATATATATATAT GTGTGTGTAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL4_chr1_48527854_50028954	48980718	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01943.hp2 others(15): Show HG01243.hp1 HG01243.hp2 HG01943.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02698.hp2 HG02896.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03710.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0004t0003 a0001c0004t0010 a0002c0003t0001 a0002c0003t0005 a0002c0003t0008 a0003c0009t0004	a0001c0001t0001g0050 a0001c0001t0002g0022 a0001c0001t0002g0044 others(15): Show a0001c0001t0001g0050 a0001c0001t0002g0022 a0001c0001t0002g0044 a0001c0001t0003g0092 a0001c0001t0003g0100 a0001c0001t0004g0072 a0001c0001t0005g0091 a0001c0001t0007g0021 a0001c0001t0011g0010 a0001c0001t0013g0090 a0001c0001t0016g0001 a0001c0004t0003g0051 a0001c0004t0003g0052 a0001c0004t0010g0048 a0002c0003t0001g0009 a0002c0003t0005g0017 a0002c0003t0008g0088 a0003c0009t0004g0020	18	30	0.6000	-34	c.594 others(53): Show c.594+64832_594+64865delATATATATATATATATATATATATAT ATATATAT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49237512	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	3	0.3333	-34	c.377 others(51): Show c.377+8224_377+8257delTATATATATATATATATATATATATATA TATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	4/13			chr1	TogoVar
AGFG1_chr2_227467156_227566217	227467882	TCTCGCTC others(27): Show TCTCGCTCTGTCACTCAGCCTGCAGTGCGGTAGCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0051 a0001c0004t0006g0051	1	326	0.0031	-34	c.-45 others(45): Show c.-4539_-4506delCTCGCTCTGTCACTCAGCCTGCAGTGCGGTAGCA	AGFG1	ENSG00000173744.18	transcript	ENST00000310078.13	protein_coding		4273		chr2	TogoVar
AGMO_chr7_15195317_15567015	15198223	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG03139.hp1 NA19043.hp1 HG02109.hp2 HG03139.hp1 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0003 a0006c0012t0003 a0001c0001t0003 a0006c0012t0003	a0001c0001t0003g0181 a0001c0001t0003g0216 a0006c0012t0003g0223 a0001c0001t0003g0181 a0001c0001t0003g0216 a0006c0012t0003g0223	3	234	0.0128	-34	c.30 others(45): Show c.3028_*3061delGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding		2093		chr7	TogoVar
AGMO_chr7_15195317_15567015	15198240	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG03209.hp1 others(4): Show HG02922.hp1 HG03195.hp1 HG03209.hp1 HG03710.hp2 HG04184.hp2 NA18522.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0011 others(1): Show a0001c0001 a0001c0007 a0001c0011 a0002c0004	a0001c0001t0001 a0001c0007t0001 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0001c0011t0001 a0002c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0001g0068 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0171 a0001c0007t0001g0015 a0001c0011t0001g0210 a0002c0004t0001g0010	7	229	0.0306	-34	c.30 others(45): Show c.3011_*3044delACTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTC	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding		2076		chr7	TogoVar
AGMO_chr7_15195317_15567015	15248179	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01169.hp2 others(12): Show HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01884.hp2 HG02257.hp2 HG02572.hp1 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG03209.hp1 HG03540.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0011 a0014 a0016	a0001c0001 a0001c0005 a0002c0002 others(5): Show a0001c0001 a0001c0005 a0002c0002 a0002c0004 a0007c0024 a0011c0023 a0014c0020 a0016c0022	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0002c0002t0004 a0002c0002t0007 a0002c0004t0007 a0007c0024t0004 a0011c0023t0007 a0014c0020t0002 a0016c0022t0004	a0001c0001t0001g0019 a0001c0001t0001g0182 a0001c0005t0001g0006 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0182 a0001c0005t0001g0006 a0001c0005t0001g0007 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0004g0208 a0002c0002t0004g0209 a0002c0002t0007g0217 a0002c0004t0007g0008 a0007c0024t0004g0224 a0011c0023t0007g0227 a0014c0020t0002g0202 a0016c0022t0004g0020	15	94	0.1596	-34	c.126 others(55): Show c.1264-46854_1264-46821delATATATATATATATATATATATAT ATATATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15354464	GTGTGTAT others(27): Show GTGTGTATACACACGTGTGTATATACACACGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0090 a0001c0003t0001g0090	1	224	0.0045	-34	c.126 others(55): Show c.1263+11016_1263+11049delTACACGTGTGTATATACACACGTG TGTATACACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGO2_chr8_140515156_140640633	140607451	AGAAAAAT others(27): Show AGAAAAATTATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01515.hp1 others(2): Show HG01069.hp2 HG01071.hp1 HG01515.hp1 HG01993.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0040 a0001c0001t0124 a0001c0001t0001 a0001c0001t0040 a0001c0001t0124	a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0040g0138 others(2): Show a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0040g0138 a0001c0001t0040g0139 a0001c0001t0124g0110	5	289	0.0173	-34	c.23- others(51): Show c.23-22174_23-22141delATATATATATATATATATATATATATAA TTTTTC	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140607458	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG03654.hp1 others(3): Show HG01070.hp2 HG01071.hp2 HG03654.hp1 NA18954.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0001t0134 a0001c0002t0084 a0001c0001t0019 a0001c0001t0134 a0001c0002t0084	a0001c0001t0019g0059 a0001c0001t0019g0094 a0001c0001t0019g0095 others(3): Show a0001c0001t0019g0059 a0001c0001t0019g0094 a0001c0001t0019g0095 a0001c0001t0019g0096 a0001c0001t0134g0029 a0001c0002t0084g0061	6	201	0.0299	-34	c.23- others(51): Show c.23-22181_23-22148delTATATATATATATATATATATATATATA TATATA	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140607483	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02572.hp2 others(4): Show HG02055.hp2 HG02258.hp1 HG02572.hp2 HG02622.hp1 HG03486.hp2 HG03579.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007	a0001c0001t0014 a0001c0001t0034 a0001c0001t0098 others(4): Show a0001c0001t0014 a0001c0001t0034 a0001c0001t0098 a0001c0003t0017 a0001c0003t0030 a0001c0005t0007 a0001c0007t0091	a0001c0001t0014g0177 a0001c0001t0034g0107 a0001c0001t0098g0030 others(4): Show a0001c0001t0014g0177 a0001c0001t0034g0107 a0001c0001t0098g0030 a0001c0003t0017g0274 a0001c0003t0030g0326 a0001c0005t0007g0324 a0001c0007t0091g0322	7	336	0.0208	-34	c.23- others(51): Show c.23-22206_23-22173delGTATATATATATATATATATATATATAT ATATAT	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGRN_chr1_1015120_1061116	1030153	GTGTGTGT others(27): Show GTGTGTGTGCAGTGCATGGTGCTGTGAGATCAGCA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp2 NA18906.hp1 others(1): Show HG02965.hp1 HG03098.hp2 NA18906.hp1 NA20129.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0005 a0007c0008t0005	a0007c0008t0005g0172 a0007c0008t0005g0173 a0007c0008t0005g0185 others(1): Show a0007c0008t0005g0172 a0007c0008t0005g0173 a0007c0008t0005g0185 a0007c0008t0005g0186	4	208	0.0192	-34	c.464 others(51): Show c.464-5115_464-5082delCAGTGCATGGTGCTGTGAGATCAGCATG TGTGTG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AHRR_chr5_316714_443285	415365	CCCTGGTC others(27): Show CCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	247	0.0040	-34	c.441 others(51): Show c.441+1962_441+1995delGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	TGGGAGGC others(27): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGC	T T	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	195	0.0051	-34	c.441 others(51): Show c.441+1996_441+2029delATCTGCCTGGTCGGGCGGGAGGCCTAGG GGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415429	ATCTGCCT others(27): Show ATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02486.hp2 HG03139.hp2 others(5): Show HG00673.hp2 HG02486.hp2 HG03139.hp2 HG03492.hp2 NA18950.hp1 NA18982.hp2 NA19064.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0063 a0002c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0002g0097 others(5): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0003g0064 a0001c0001t0003g0210 a0001c0001t0063g0173 a0002c0002t0001g0257	8	230	0.0348	-34	c.441 others(51): Show c.441+2011_441+2044delCGGGAGGCCTAGGGGCCGAGTCTGCCTG GTCGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415444	CGGGAGGC others(27): Show CGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0226 a0001c0001t0032g0226	1	212	0.0047	-34	c.441 others(51): Show c.441+2034_441+2067delGCCTGGTCGGGTGGGAGGCCTAGGGGCC GAGTCT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415545	GTGGGAGG others(27): Show GTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18946.hp2 NA18966.hp2 others(4): Show HG00621.hp1 NA18946.hp2 NA18966.hp2 NA18967.hp1 NA19000.hp1 NA19007.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0064 a0001c0001t0002 a0001c0001t0064	a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0123 others(4): Show a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0132 a0001c0001t0064g0128	7	237	0.0295	-34	c.441 others(51): Show c.441+2143_441+2176delCTGCTGGGAGGCCTAGGGGCCGAATCTG CCTGGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415576	CTGCTGGG others(27): Show CTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	221	0.0045	-34	c.441 others(51): Show c.441+2144_441+2177delTGCTGGGAGGCCTAGGGGCCGAATCTGC CTGGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
AHRR_chr5_316714_443285	415580	TGGGAGGC others(27): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0226 a0001c0001t0032g0226	1	195	0.0051	-34	c.441 others(51): Show c.441+2211_441+2244delGGGGCGGGAGGCCTAGGGGCCGAATCTG CCTGGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AIFM2_chr10_70107271_70137825	70133098	AAGAGAGA others(27): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00673.hp1 others(109): Show HG00423.hp1 HG00597.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01516.hp2 HG01517.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18999.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0001c0012 a0001c0014 a0001c0020 a0002c0004 a0002c0007 a0002c0011 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0018 a0001c0002t0025 a0001c0002t0026 a0001c0002t0054 a0001c0002t0056 a0001c0005t0001 a0001c0005t0002 a0001c0005t0011 a0001c0005t0027 a0001c0006t0006 a0001c0006t0013 a0001c0006t0029 a0001c0009t0019 a0001c0012t0010 a0001c0014t0002 a0001c0020t0046 a0002c0004t0002 a0002c0007t0008 a0002c0007t0053 a0002c0011t0002 a0003c0003t0017 a0003c0003t0051 a0003c0003t0052	a0001c0001t0001g0041 a0001c0001t0001g0078 a0001c0001t0001g0081 others(94): Show a0001c0001t0001g0041 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0042 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0321 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0332 a0001c0001t0002g0335 a0001c0001t0002g0342 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0354 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0360 a0001c0001t0011g0043 a0001c0001t0016g0040 a0001c0001t0016g0295 a0001c0001t0023g0285 a0001c0001t0024g0302 a0001c0001t0044g0301 a0001c0001t0048g0339 a0001c0001t0049g0307 a0001c0001t0050g0322 a0001c0002t0003g0221 a0001c0002t0007g0076 a0001c0002t0007g0294 a0001c0002t0008g0304 a0001c0002t0008g0306 a0001c0002t0008g0308 a0001c0002t0008g0320 a0001c0002t0008g0331 a0001c0002t0008g0333 a0001c0002t0008g0340 a0001c0002t0008g0348 a0001c0002t0008g0353 a0001c0002t0008g0355 a0001c0002t0018g0313 a0001c0002t0018g0316 a0001c0002t0025g0282 a0001c0002t0026g0283 a0001c0002t0054g0368 a0001c0002t0056g0374 a0001c0005t0001g0079 a0001c0005t0001g0296 a0001c0005t0001g0299 a0001c0005t0001g0300 a0001c0005t0002g0317 a0001c0005t0011g0367 a0001c0005t0011g0371 a0001c0005t0027g0341 a0001c0005t0027g0346 a0001c0006t0006g0080 a0001c0006t0006g0293 a0001c0006t0013g0309 a0001c0006t0013g0310 a0001c0006t0029g0369 a0001c0006t0029g0370 a0001c0009t0019g0044 a0001c0009t0019g0373 a0001c0012t0010g0297 a0001c0014t0002g0329 a0001c0020t0046g0284 a0002c0004t0002g0337 a0002c0004t0002g0343 a0002c0004t0002g0359 a0002c0007t0008g0338 a0002c0007t0053g0372 a0002c0011t0002g0323 a0003c0003t0017g0330 a0003c0003t0017g0336 a0003c0003t0017g0347 a0003c0003t0051g0311 a0003c0003t0052g0334	112	166	0.6747	-34	c.-41 others(43): Show c.-412_-379delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding		274		chr10	TogoVar
AIPL1_chr17_6418738_6440121	6421832	TAGAAAAG others(27): Show TAGAAAAGAAAAGAAAAGAAAAAAAAGAAAAGAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA20805.hp2 NA19030.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0053 a0001c0004t0003 a0001c0001t0053 a0001c0004t0003	a0001c0001t0053g0258 a0001c0004t0003g0205 a0001c0001t0053g0258 a0001c0004t0003g0205	2	432	0.0046	-34	c.35 others(45): Show c.3594_*3627delTTTCTTTTCTTTTTTTTCTTTTCTTTTCTTTTCT	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding		1905		chr17	TogoVar
AKR1C1_chr10_4958415_4988283	4961721	TGTTGTTG others(27): Show TGTTGTTGTTGTTGTTGTTGTTGTTCTTGTTGTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0167 a0001c0001t0167	a0001c0001t0167g0093 a0001c0001t0167g0093	1	397	0.0025	-34	c.-17 others(45): Show c.-1723_-1690delGTTGTTGTTGTTGTTGTTGTTGTTCTTGTTGTTG	AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding		1693		chr10	TogoVar
AKT1_chr14_104764349_104800748	104777251	CCCACACC others(27): Show CCCACACCTGGGGCACAGGCACACCTGGGGCACAG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01346.hp2 others(2): Show HG00642.hp1 HG01109.hp2 HG01346.hp2 HG01361.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0039 a0001c0001t0001g0243 a0001c0001t0002g0222 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0243 a0001c0001t0002g0222 a0001c0002t0001g0073	5	375	0.0133	-34	c.176 others(49): Show c.176-515_176-482delCTGTGCCCCAGGTGTGCCTGTGCCCCAGGT GTGG	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	4/14			chr14	TogoVar
AKT3_chr1_243494724_243855243	243693243	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0284 a0001c0001t0049g0284	1	135	0.0074	-34	c.172 others(51): Show c.172+2314_172+2347delATATATATATATATATATATATATATAT ATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02080.hp1 HG02155.hp2 others(2): Show HG02056.hp2 HG02080.hp1 HG02155.hp2 NA19000.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0008 a0001c0001t0013	a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0169 others(2): Show a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0169 a0001c0001t0008g0192 a0001c0001t0013g0011	5	23	0.2174	-34	c.47- others(49): Show c.47-3783_47-3750delTATATATATATATATATATATATATATATA TATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
ALDH1L2_chr12_105014790_105089458	105036510	TATTTTAT others(27): Show TATTTTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG03540.hp1 HG01952.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0023 a0001c0001t0016g0079 a0001c0001t0016g0023 a0001c0001t0016g0079	2	373	0.0054	-34	c.214 others(53): Show c.2145+1559_2145+1592delTATATATATATATATATATATATATA TATAAAAT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105036514	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0097 a0001c0002t0009g0097	1	242	0.0041	-34	c.214 others(53): Show c.2145+1555_2145+1588delTATATATATATATATATATATATATA TATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	18/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046167	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp2 HG02970.hp1 HG01891.hp2 HG02895.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0025 a0001c0001t0004 a0001c0002t0025	a0001c0001t0004g0051 a0001c0001t0004g0116 a0001c0002t0025g0333 a0001c0001t0004g0051 a0001c0001t0004g0116 a0001c0002t0025g0333	3	382	0.0079	-34	c.186 others(51): Show c.1863+509_1863+542delTATATATAGAGAGAGAGAGAGAGAGAGA GAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046171	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01255.hp1 HG01256.hp2 others(2): Show HG00642.hp2 HG01255.hp1 HG01256.hp2 HG02738.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0010 a0001c0002t0009 a0001c0002t0010	a0001c0002t0009g0058 a0001c0002t0010g0076 a0001c0002t0010g0087 others(2): Show a0001c0002t0009g0058 a0001c0002t0010g0076 a0001c0002t0010g0087 a0001c0002t0010g0179 a0001c0002t0010g0344	5	351	0.0142	-34	c.186 others(51): Show c.1863+505_1863+538delTATATATATATAGAGAGAGAGAGAGAGA GAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105046173	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG03491.hp1 HG03492.hp2 HG00280.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0074 a0001c0002t0010g0075 a0001c0002t0010g0288 a0001c0002t0010g0074 a0001c0002t0010g0075 a0001c0002t0010g0288	3	352	0.0085	-34	c.186 others(51): Show c.1863+503_1863+536delTATATATATATATAGAGAGAGAGAGAGA GAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar

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