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
ADAMTS6_chr5_65143738_65486920	65471932	T T	TAATACCA others(32): Show TAATACCAACCCATTGCTTCAATTGATTTTCTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	202	0.0050	39	c.98- others(52): Show c.98-791_98-790insGAAAAAAAAGAAAATCAATTGAAGCAATGGGT TGGTATT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	2/24			chr5	TogoVar
ADAMTSL1_chr9_18469153_18915950	18688687	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0014 a0014	a0014c0046 a0014c0046	a0014c0046t0002 a0014c0046t0002	a0014c0046t0002g0202 a0014c0046t0002g0202	1	186	0.0054	39	c.157 others(58): Show c.1574+3887_1574+3888insTATATATATATATATATATATATATA TATATATATATAT	ADAMTSL1	ENSG00000178031.18	transcript	ENST00000380548.9	protein_coding	13/28			chr9	TogoVar
ADAMTSL3_chr15_83649123_84044842	84043241	T T	TTGTTATC others(32): Show TTGTTATCTTTTGTTCTTTTTTGTTTTATTTTATTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0150 a0005c0006t0001g0150	1	272	0.0037	39	c.54 others(50): Show c.5435_*5436insTGTTATCTTTTGTTCTTTTTTGTTTTATTTTATT TTTTA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding		3400		chr15	TogoVar
ADAP1_chr7_892900_959680	924023	A A	AGGTTACA others(32): Show AGGTTACACTGCAGGTCCACGCTGCACCCCCCGCCCTCCG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	12	0.0833	39	c.305 others(56): Show c.305+2491_305+2529dupCGGAGGGCGGGGGGTGCAGCGTGGACCT GCAGTGTAACC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	3/10			chr7	TogoVar
ADAP1_chr7_892900_959680	924172	G G	GCCCTCCG others(32): Show GCCCTCCGGGTTACACTGCAGGTCCACGCTGCACCCCCCA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	12	0.0833	39	c.305 others(56): Show c.305+2380_305+2381insTGGGGGGTGCAGCGTGGACCTGCAGTGT AACCCGGAGGG	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	3/10			chr7	TogoVar
ADAP1_chr7_892900_959680	924571	C C	CGCCCTCC others(32): Show CGCCCTCCAGATTACACAGCAGGTCCACACTGCACCCCCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	3	0.3333	39	c.305 others(56): Show c.305+1981_305+1982insAGGGGGTGCAGTGTGGACCTGCTGTGTA ATCTGGAGGGC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	3/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1514178	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0033 a0002c0002t0005g0033	1	10	0.1000	39	c.101 others(60): Show c.101-135019_101-135018insATATATATATATATATATATATAT ATATATATATATATA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1540781	T T	TGTAGTTC others(32): Show TGTAGTTCAGACCCTGGATCCGTCCAGACCCCACTCAGAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0037 a0004c0005t0037	a0004c0005t0037g0064 a0004c0005t0037g0064	1	61	0.0164	39	c.101 others(60): Show c.101-161622_101-161621insGTCTGAGTGGGGTCTGGACGGATC CAGGGTCTGAACTAC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1541967	G G	GCCGTCCA others(32): Show GCCGTCCAGACCCCACTCAGACTCAGTTCAGACCCTGGAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0090 a0003c0006t0003g0090	1	106	0.0094	39	c.101 others(60): Show c.101-162808_101-162807insATCCAGGGTCTGAACTGAGTCTGA GTGGGGTCTGGACGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1542666	G G	GCCGTCCA others(32): Show GCCGTCCAGACCCCACTCAGACTCAGTTCAGACCCTGGAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0090 a0003c0006t0003g0090	1	106	0.0094	39	c.101 others(60): Show c.101-163507_101-163506insATCCAGGGTCTGAACTGAGTCTGA GTGGGGTCTGGACGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADAT1_chr16_75591868_75628281	75624133	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0065 a0001c0008t0065	a0001c0008t0065g0218 a0001c0008t0065g0218	1	68	0.0147	39	c.-17 others(50): Show c.-1753_-1752insAAATATATATATATATATATATATATATATATAT ATATA	ADAT1	ENSG00000065457.11	transcript	ENST00000564657.2	protein_coding		853		chr16	TogoVar
ADCY2_chr5_7391138_7835081	7673269	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0136 a0002c0003t0008g0136	1	7	0.1429	39	c.721 others(58): Show c.721-17422_721-17421insTATATATATATATATATATATATATA TATATATATATAT	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	4/24			chr5	TogoVar
ADCY2_chr5_7391138_7835081	7804040	A A	AGAGAGAG others(32): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0038 a0001c0007t0001g0038	1	55	0.0182	39	c.277 others(56): Show c.2776-545_2776-544insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAG	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	21/24			chr5	TogoVar
ADCY3_chr2_24814169_24925237	24817467	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0020 a0001c0028t0020	a0001c0028t0020g0250 a0001c0028t0020g0250	1	270	0.0037	39	c.24 others(50): Show c.2464_*2465insGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding		1701		chr2	TogoVar
ADCY8_chr8_130775301_131045909	130787569	T T	TTGTAGTG others(32): Show TTGTAGTGATGTGTGTATGTCTACATGTGTACAGTACATG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp1 HG01175.hp1 others(11): Show HG00733.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01981.hp1 HG02015.hp1 HG02735.hp2 HG03492.hp2 NA18954.hp2 NA18983.hp1 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0003c0020	a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 others(2): Show a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0001c0010t0002 a0003c0020t0002	a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0002g0059 others(11): Show a0001c0001t0002g0026 a0001c0001t0002g0052 a0001c0001t0002g0059 a0001c0001t0002g0080 a0001c0001t0002g0145 a0001c0002t0002g0053 a0001c0002t0002g0158 a0001c0002t0002g0191 a0001c0004t0002g0124 a0001c0004t0002g0202 a0001c0004t0002g0209 a0001c0010t0002g0205 a0001c0010t0002g0206 a0003c0020t0002g0237	14	244	0.0574	39	c.306 others(58): Show c.3061-2133_3061-2095dupCATGTACTGTACACATGTAGACATAC ACACATCACTACA	ADCY8	ENSG00000155897.10	transcript	ENST00000286355.10	protein_coding	15/17			chr8	TogoVar
ADD3_chr10_110002984_110140565	110065539	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19011.hp2 NA18966.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0221 a0001c0001t0001g0153 a0001c0001t0001g0221	2	64	0.0313	39	c.-29 others(58): Show c.-29-35068_-29-35067insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ADD3	ENSG00000148700.15	transcript	ENST00000356080.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRB3_chr6_68630282_69394506	68897758	G G	GGATAGGG others(32): Show GGATAGGGGAGGGCAGGAAGAGGAAGGAAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03098.hp1 HG03579.hp1 others(3): Show HG01167.hp2 HG03098.hp1 HG03579.hp1 HG06807.hp2 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0002g0034 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0059 a0001c0001t0002g0034 a0001c0003t0001g0032 a0001c0003t0001g0056 a0001c0003t0001g0062	6	118	0.0508	39	c.758 others(58): Show c.758-32801_758-32800insGATAGGGGAGGGCAGGAAGAGGAAGG AAGGGAGGGAGGA	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31			chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69031550	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01516.hp2 others(11): Show HG00639.hp1 HG01074.hp1 HG01516.hp2 HG01978.hp1 HG02451.hp1 HG02602.hp2 HG02717.hp2 HG03098.hp2 HG03239.hp2 HG03471.hp2 HG03654.hp1 NA18906.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005 a0003c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0002 a0002c0005t0001 a0003c0009t0001	a0001c0001t0001g0004 a0001c0001t0001g0058 a0001c0001t0001g0091 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0058 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0002t0001g0041 a0001c0002t0002g0119 a0001c0002t0004g0051 a0001c0003t0001g0010 a0001c0003t0001g0015 a0001c0003t0001g0089 a0001c0003t0002g0053 a0002c0005t0001g0003 a0002c0005t0001g0021 a0003c0009t0001g0111	14	71	0.1972	39	c.210 others(60): Show c.2107+13053_2107+13054insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	13/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRD1_chr12_130948907_131146469	131017315	C C	CACACACC others(32): Show CACACACCCAGTGCACACAGTCCACACACACCCAGTCCAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02965.hp1 HG02965.hp2 others(3): Show HG02257.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1	a0003 a0003	a0003c0018 a0003c0027 a0003c0028 others(2): Show a0003c0018 a0003c0027 a0003c0028 a0003c0030 a0003c0044	a0003c0018t0020 a0003c0027t0001 a0003c0028t0001 others(2): Show a0003c0018t0020 a0003c0027t0001 a0003c0028t0001 a0003c0030t0032 a0003c0044t0007	a0003c0018t0020g0123 a0003c0018t0020g0124 a0003c0027t0001g0180 others(3): Show a0003c0018t0020g0123 a0003c0018t0020g0124 a0003c0027t0001g0180 a0003c0028t0001g0022 a0003c0030t0032g0160 a0003c0044t0007g0126	6	194	0.0309	39	c.147 others(58): Show c.1473+3013_1473+3014insTACACACCCAGTGCACACAGTCCACA CACACCCAGTCCA	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131032743	A A	ACCCCGTC others(32): Show ACCCCGTCACAGAGGTGACGCTTATTAGAGAAATCGCCAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0043 a0001c0004t0043	a0001c0004t0043g0024 a0001c0004t0043g0024	1	238	0.0042	39	c.147 others(60): Show c.1473+18407_1473+18445dupCGTCACAGAGGTGACGCTTATTAG AGAAATCGCCACCCC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131098128	C C	CCTCCCAC others(32): Show CCTCCCACGGTGGCCGCTGTCTGGGCTGCCTCACCGCCTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01109.hp2 others(20): Show HG00735.hp1 HG01099.hp2 HG01109.hp2 HG01515.hp2 HG01884.hp2 HG02451.hp1 HG02896.hp2 HG03098.hp2 HG03453.hp1 HG03710.hp2 HG04199.hp1 NA18959.hp1 NA18961.hp2 NA18970.hp2 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA19009.hp2 NA19010.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0027 a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0003t0006 a0001c0003t0012 a0001c0003t0019 a0001c0003t0035 a0001c0003t0045 a0001c0004t0002 a0001c0005t0008	a0001c0001t0002g0162 a0001c0001t0002g0174 a0001c0001t0002g0176 others(20): Show a0001c0001t0002g0162 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0228 a0001c0001t0002g0235 a0001c0001t0005g0055 a0001c0001t0009g0141 a0001c0001t0009g0145 a0001c0001t0027g0118 a0001c0002t0001g0125 a0001c0002t0008g0016 a0001c0002t0010g0139 a0001c0002t0010g0201 a0001c0003t0006g0058 a0001c0003t0006g0092 a0001c0003t0006g0186 a0001c0003t0006g0215 a0001c0003t0012g0088 a0001c0003t0019g0218 a0001c0003t0035g0200 a0001c0003t0045g0042 a0001c0004t0002g0011 a0001c0005t0008g0226	23	228	0.1009	39	c.167 others(58): Show c.1672-6698_1672-6697insACGGTGGCCGCTGTCTGGGCTGCCTC ACCGCCTTCTCCC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRE3_chr19_14614117_14679844	14636081	C C	CTTTCCCT others(32): Show CTTTCCCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0295 a0001c0006t0001g0295	1	296	0.0034	39	c.148 others(58): Show c.1484+2023_1484+2024insAAAGAAAGAAAGAGAAAGAAAGAAAG AAAGAAAGGGAAA	ADGRE3	ENSG00000131355.15	transcript	ENST00000253673.6	protein_coding	11/15			chr19	TogoVar
ADGRE5_chr19_14376444_14413723	14389343	A A	AGGGGAAG others(32): Show AGGGGAAGGGGAGGGGAAGGGGGAAGGGGGAAGGGGGAAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	190	0.0053	39	c.190 others(54): Show c.190+540_190+541insAAGGGGGAAGGGGGAAGGGGGAAGGGGGAA GGGGAGGGG	ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADGRF5_chr6_46847522_46926938	46926112	T T	TGTATATT others(32): Show TGTATATTTTGGCAGAGGCTCTATTCTTATCTTGGTGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0016 a0003c0003t0016	a0003c0003t0016g0026 a0003c0003t0016g0026	1	380	0.0026	39	c.-44 others(50): Show c.-4425_-4424insCACCACCAAGATAAGAATAGAGCCTCTGCCAAAA TATAC	ADGRF5	ENSG00000069122.19	transcript	ENST00000283296.12	protein_coding		4175		chr6	TogoVar
ADGRG3_chr16_57663306_57694378	57691122	A A	AAGAAGGA others(32): Show AAGAAGGAGGGAGAAGGAGGAGGAGGAGGAAGAAGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0209 a0002c0004t0001g0209	1	446	0.0022	39	c.26 others(50): Show c.2661_*2662insAGAAGGAGGGAGAAGGAGGAGGAGGAGGAAGAAG GAGGG	ADGRG3	ENSG00000182885.17	transcript	ENST00000333493.9	protein_coding		1745		chr16	TogoVar
ADGRG7_chr3_100604601_100700479	100605991	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	326	0.0031	39	c.-38 others(50): Show c.-3866_-3865insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding		3609		chr3	TogoVar
ADH4_chr4_99118658_99149297	99147899	T T	TTCTCTAC others(32): Show TTCTCTACTTCTAGGCGGGGTGGGGGGGAGGGGGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	336	0.0030	39	c.-36 others(50): Show c.-3678_-3677insCTCCCCCCCCCTCCCCCCCACCCCGCCTAGAAGT AGAGA	ADH4	ENSG00000198099.10	transcript	ENST00000265512.12	protein_coding		3603		chr4	TogoVar
ADIPOQ_chr3_186837710_186863463	186863244	G G	GTCCTCCC others(32): Show GTCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	474	0.0021	39	c.85 others(50): Show c.8540_*8541insTCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTC	ADIPOQ	ENSG00000181092.10	transcript	ENST00000320741.7	protein_coding		4782		chr3	TogoVar
ADK_chr10_74146221_74714290	74172747	C C	CCAACATG others(32): Show CCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	198	0.0051	39	c.65+ others(56): Show c.65+21405_65+21443dupCAACATGGTGAAACCCCATCTCTACTAA AATACAAAAAA	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADK_chr10_74146221_74714290	74188343	A A	ATTTTAAT others(32): Show ATTTTAATGTATTTCTGCTCTTTTAATTTTCTTGCTGTAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02809.hp2 HG02055.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0182 a0001c0001t0001g0187	2	95	0.0211	39	c.66- others(56): Show c.66-12417_66-12416insAATGTATTTCTGCTCTTTTAATTTTCTT GCTGTACTTTT	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AFAP1_chr4_7753714_7944861	7827569	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0033 a0002c0005t0033	a0002c0005t0033g0010 a0002c0005t0033g0010	1	47	0.0213	39	c.727 others(56): Show c.727-8399_727-8398insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	6/17			chr4	TogoVar
AFF1_chr4_86930011_87146039	86969879	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03486.hp1 HG02451.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0005 a0001c0004t0023 a0001c0002t0005 a0001c0004t0023	a0001c0002t0005g0196 a0001c0004t0023g0250 a0001c0002t0005g0196 a0001c0004t0023g0250	2	42	0.0476	39	c.38+ others(56): Show c.38+21326_38+21327insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AFF2_chrX_148495617_149005663	148500637	T T	TGCCGCCG others(32): Show TGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	44	0.0227	39	c.-45 others(48): Show c.-452_-414dupCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC CGC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/21	413	INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148983953	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0127 a0001c0005t0020g0127	1	22	0.0455	39	c.362 others(58): Show c.3623+3178_3623+3179insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	19/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0107 a0002c0002t0002g0107	1	8	0.1250	39	c.848 others(54): Show c.848+373_848+374insATATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0092 a0002c0002t0002g0092	1	8	0.1250	39	c.848 others(54): Show c.848+373_848+374insATATATATATATATATATATTTTTTTTTTT TTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA20905.hp1 HG00408.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0068 a0002c0002t0002g0041 a0002c0002t0002g0068	2	9	0.2222	39	c.848 others(54): Show c.848+373_848+374insATATATATATATATATATATATTTTTTTTT TTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	8	0.1250	39	c.848 others(54): Show c.848+373_848+374insATATATATATATATATATATATATTTTTTT TTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02132.hp1 HG01258.hp2 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0100 a0002c0002t0002g0095 a0002c0002t0002g0100	2	9	0.2222	39	c.848 others(54): Show c.848+373_848+374insATATATATATATATATATATATATATTTTT TTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0018	1	8	0.1250	39	c.848 others(54): Show c.848+373_848+374insATATATATATATATATATATATATATATTT TTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL3_chr7_134981508_135140778	135026244	A A	ATTATTTT others(32): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATTTATT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 HG03471.hp1 others(1): Show HG02109.hp2 HG02258.hp2 HG03471.hp1 NA19043.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0006 a0002c0002 a0009c0010 a0001c0006 a0002c0002 a0009c0010	a0001c0006t0005 a0002c0002t0006 a0009c0010t0006 a0001c0006t0005 a0002c0002t0006 a0009c0010t0006	a0001c0006t0005g0277 a0002c0002t0006g0060 a0002c0002t0006g0062 others(1): Show a0001c0006t0005g0277 a0002c0002t0006g0060 a0002c0002t0006g0062 a0009c0010t0006g0061	4	145	0.0276	39	c.419 others(56): Show c.419-6564_419-6563insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTT	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135026244	A A	ATTATTTT others(32): Show ATTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	142	0.0070	39	c.419 others(56): Show c.419-6597_419-6559dupATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTT	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135026248	T T	TTTTATTT others(32): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG04184.hp1 HG04204.hp1 HG01099.hp2 HG04184.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0080 a0001c0001t0001g0104 a0001c0001t0001g0105	3	248	0.0121	39	c.419 others(56): Show c.419-6592_419-6554dupATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTT	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGO3_chr1_35926105_36077500	35993738	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0013 a0001c0006t0029g0013	1	140	0.0071	39	c.659 others(58): Show c.659-10577_659-10576insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO3_chr1_35926105_36077500	36076734	A A	ACCCCCCC others(32): Show ACCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0190 a0001c0001t0040g0190	1	256	0.0039	39	c.20 others(52): Show c.20989_*20990insCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCC CCCCCCC	AGO3	ENSG00000126070.20	transcript	ENST00000373191.9	protein_coding		4235		chr1	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	103	0.0097	39	c.-10 others(56): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATATATTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0014 a0005c0005t0014	a0005c0005t0014g0147 a0005c0005t0014g0147	1	103	0.0097	39	c.-10 others(56): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT ATTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0021 a0006c0006t0021	a0006c0006t0021g0245 a0006c0006t0021g0245	1	103	0.0097	39	c.-10 others(56): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATTT TTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	397067	G G	GTAGCTCC others(32): Show GTAGCTCCTGACCATCCATGTTAGCCCCTGACCATCCACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp2 HG01081.hp2 others(62): Show HG00280.hp2 HG00735.hp2 HG01081.hp2 HG01099.hp2 HG01169.hp1 HG01261.hp1 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19002.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0007 a0012 a0013 a0014	a0001c0001 a0001c0009 a0002c0002 others(7): Show a0001c0001 a0001c0009 a0002c0002 a0004c0003 a0005c0005 a0006c0006 a0007c0007 a0012c0014 a0013c0018 a0014c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0022 a0001c0001t0027 a0001c0001t0045 a0001c0001t0049 a0001c0001t0059 a0001c0001t0060 a0001c0009t0036 a0001c0009t0055 a0002c0002t0001 a0004c0003t0007 a0004c0003t0009 a0004c0003t0010 a0004c0003t0013 a0004c0003t0018 a0004c0003t0022 a0004c0003t0023 a0004c0003t0024 a0004c0003t0027 a0004c0003t0033 a0004c0003t0034 a0004c0003t0037 a0005c0005t0038 a0006c0006t0021 a0006c0006t0030 a0006c0006t0031 a0007c0007t0007 a0007c0007t0023 a0007c0007t0035 a0012c0014t0020 a0013c0018t0017 a0014c0012t0020	a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0152 others(62): Show a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0006g0262 a0001c0001t0007g0030 a0001c0001t0007g0219 a0001c0001t0009g0031 a0001c0001t0012g0149 a0001c0001t0012g0254 a0001c0001t0017g0035 a0001c0001t0017g0264 a0001c0001t0018g0106 a0001c0001t0022g0222 a0001c0001t0027g0153 a0001c0001t0045g0252 a0001c0001t0049g0155 a0001c0001t0059g0016 a0001c0001t0060g0261 a0001c0009t0036g0033 a0001c0009t0055g0104 a0002c0002t0001g0091 a0002c0002t0001g0122 a0002c0002t0001g0255 a0004c0003t0007g0220 a0004c0003t0007g0234 a0004c0003t0007g0237 a0004c0003t0007g0241 a0004c0003t0007g0244 a0004c0003t0007g0266 a0004c0003t0009g0223 a0004c0003t0009g0225 a0004c0003t0009g0227 a0004c0003t0009g0229 a0004c0003t0009g0243 a0004c0003t0010g0157 a0004c0003t0013g0221 a0004c0003t0013g0232 a0004c0003t0013g0233 a0004c0003t0013g0248 a0004c0003t0018g0102 a0004c0003t0022g0247 a0004c0003t0023g0230 a0004c0003t0024g0029 a0004c0003t0027g0099 a0004c0003t0033g0242 a0004c0003t0034g0235 a0004c0003t0037g0240 a0005c0005t0038g0024 a0006c0006t0021g0245 a0006c0006t0021g0246 a0006c0006t0030g0231 a0006c0006t0031g0239 a0007c0007t0007g0238 a0007c0007t0023g0224 a0007c0007t0035g0228 a0012c0014t0020g0034 a0013c0018t0017g0265 a0014c0012t0020g0236	65	264	0.2462	39	c.352 others(58): Show c.352-16273_352-16272insTCCTGACCATCCATGTTAGCCCCTGA CCATCCACATAGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	420817	C C	CCACGCAG others(32): Show CCACGCAGCCACCCACCCACGCAGCACGCACAGACCCACG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0055 a0001c0009t0055	a0001c0009t0055g0104 a0001c0009t0055g0104	1	123	0.0081	39	c.442 others(56): Show c.442-1864_442-1826dupCACCCACCCACGCAGCACGCACAGACCC ACGCACGCAGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar

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