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
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(309): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGA AGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00642.hp1 others(9): Show HG00558.hp1 HG00558.hp2 HG00642.hp1 HG02056.hp2 HG02083.hp2 HG02615.hp1 HG02735.hp2 HG04115.hp2 NA18946.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 a0001c0001 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0001t0022 a0001c0001t0063 others(7): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0063 a0001c0010t0067 a0002c0002t0003 a0002c0002t0005 a0002c0002t0010 a0002c0002t0024 a0002c0002t0030 a0002c0002t0060	a0001c0001t0001g0102 a0001c0001t0001g0124 a0001c0001t0001g0149 others(9): Show a0001c0001t0001g0102 a0001c0001t0001g0124 a0001c0001t0001g0149 a0001c0001t0022g0031 a0001c0001t0063g0143 a0001c0010t0067g0108 a0002c0002t0003g0128 a0002c0002t0005g0140 a0002c0002t0010g0066 a0002c0002t0024g0093 a0002c0002t0030g0007 a0002c0002t0060g0053	12	188	0.0638	316	c.229 others(335): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTTC CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCT CCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTC CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC CTTCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(309): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGG GAGGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGA AGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0047 a0002c0002t0004g0047	1	188	0.0053	316	c.229 others(335): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC CTTCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGA others(309): Show GGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGG AAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGGAAGGAAAGGAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGGAAGGGA GGGAGGGAGGGGAAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGGAAG GAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGGA AGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18522.hp1 HG03139.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0030 a0002c0002t0007g0074 a0002c0002t0007g0030 a0002c0002t0007g0074	2	188	0.0106	316	c.229 others(335): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTTCCTTCCTTCCCCTC CCTCCCTCCCTTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTTCCTTCCCCTCCCTCCCTCCTTTCCTTCCCCTCCCTCCCT CCCTTCCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC CTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLRA2_chrX_14524536_14736812	14631915	C C	CATATGTA others(309): Show CATATGTATATGTATATATATAGACATACATATGTATATGTATATATATA GACATACATATGTATATGTCTATATAGACATACATATACATATGTCTATA TAGACATACATATGTATGTCTATATAGACATATATATCTATATATACACA TATACGTATATATAGACATATACGTATATGTGTATATATAGACATATACG TATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATATA CGTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATA TATATGTATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03195.hp2 NA20129.hp1 HG02970.hp1 HG03195.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0018 a0001c0001t0009 a0001c0001t0018	a0001c0001t0009g0032 a0001c0001t0018g0033 a0001c0001t0018g0080 a0001c0001t0009g0032 a0001c0001t0018g0033 a0001c0001t0018g0080	3	232	0.0129	316	c.930 others(335): Show c.930+22728_930+22729insATAGACATACATATGTATATGTATAT ATATAGACATACATATGTATATGTCTATATAGACATACATATACATATGT CTATATAGACATACATATGTATGTCTATATAGACATATATATCTATATAT ACACATATACGTATATATAGACATATACGTATATGTGTATATATAGACAT ATACGTATATGTGTATATATAGACATATACGTATATGTGTATATATAGAC ATATACGTATATGTGTATATATAGACATATACGTATATGTGTATATATAG ACATATATATGTATATGTGTATATATGTATATGTATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14631915	C C	CATATGTA others(309): Show CATATGTATATGTATATATATAGACATACATATGTATATGTATATATATA GACATACATATGTATATGTCTATATAGACATACATATACGTATGTCTATA TAGACATACATATGTATGTCTATATAGACATATATATCTATATATACACA TATACGTATATATAGACATATACGTATATGTGTATATATAGACATATACG TATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATATA CGTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATA TATATGTATATGTGTAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01891.hp2 HG02258.hp1 others(7): Show HG01074.hp1 HG01891.hp2 HG02258.hp1 HG02293.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02897.hp1 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0028 a0001c0002t0045 a0001c0002t0046 others(5): Show a0001c0002t0028 a0001c0002t0045 a0001c0002t0046 a0001c0003t0007 a0001c0003t0025 a0001c0003t0026 a0001c0003t0027 a0001c0003t0030	a0001c0002t0028g0062 a0001c0002t0045g0177 a0001c0002t0046g0179 others(7): Show a0001c0002t0028g0062 a0001c0002t0045g0177 a0001c0002t0046g0179 a0001c0003t0007g0067 a0001c0003t0025g0175 a0001c0003t0025g0181 a0001c0003t0026g0176 a0001c0003t0027g0178 a0001c0003t0027g0182 a0001c0003t0030g0198	10	232	0.0431	316	c.930 others(335): Show c.930+22728_930+22729insATAGACATACATATGTATATGTATAT ATATAGACATACATATGTATATGTCTATATAGACATACATATACGTATGT CTATATAGACATACATATGTATGTCTATATAGACATATATATCTATATAT ACACATATACGTATATATAGACATATACGTATATGTGTATATATAGACAT ATACGTATATGTGTATATATAGACATATACGTATATGTGTATATATAGAC ATATACGTATATGTGTATATATAGACATATACGTATATGTGTATATATAG ACATATATATGTATATGTGTATATATGTATATGTATATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA2_chrX_14524536_14736812	14631915	C C	CATATGTA others(309): Show CATATGTATATGTCTATATATAGACATACATATGTATATGTCTATATATA GACATACATATGTATATGTCTATATAGACATACATATACGTATGTCTATA TAGACATACATATGTATGTCTATATAGACATATATATCTATATATACACA TATACGTATATATAGACATATACGTATATGTGTATATATAGACATATACG TATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATATA CGTATATGTGTATATATAGACATATACGTATATGTGTATATATAGACATA TATATGTATATGTGTAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02976.hp1 others(1): Show HG01109.hp1 HG02109.hp2 HG02976.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0039 a0001c0002t0047 a0001c0002t0023 a0001c0002t0039 a0001c0002t0047	a0001c0002t0023g0065 a0001c0002t0023g0186 a0001c0002t0039g0184 others(1): Show a0001c0002t0023g0065 a0001c0002t0023g0186 a0001c0002t0039g0184 a0001c0002t0047g0183	4	232	0.0172	316	c.930 others(335): Show c.930+22722_930+22723insCTATATATAGACATACATATGTATAT GTCTATATATAGACATACATATGTATATGTCTATATAGACATACATATAC GTATGTCTATATAGACATACATATGTATGTCTATATAGACATATATATCT ATATATACACATATACGTATATATAGACATATACGTATATGTGTATATAT AGACATATACGTATATGTGTATATATAGACATATACGTATATGTGTATAT ATAGACATATACGTATATGTGTATATATAGACATATACGTATATGTGTAT ATATAGACATATATATGTATATGTGTATATATGTATATGT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR160_chr3_170032995_170090392	170081258	T T	TAAGACCA others(309): Show TAAGACCAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	356	0.0028	316	c.-69 others(333): Show c.-69+1372_-69+1373insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACACAGTGAAACCCCGTCTCTACTAAAAAATACAA AAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACGCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAGACCAATGG	GPR160	ENSG00000173890.17	transcript	ENST00000355897.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRIA1_chr5_153485670_153818869	153722257	T T	TTCTGTGG others(309): Show TTCTGTGGCTTATCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACGGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0025 a0001c0006t0007g0025	1	194	0.0052	316	c.182 others(337): Show c.1823+16207_1823+16208insTTTTTTTTTTTTTTTTTGAGACAG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACGGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTCTGTGGCTTATCTTTT	GRIA1	ENSG00000155511.19	transcript	ENST00000285900.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
GRIK3_chr1_36790527_37039515	36957454	T T	TGTGAGCC others(309): Show TGTGAGCCTGTGTGCCCTGTGACTCTGTGCCCTGTGAGCCTGTGTGCCCC ATGACTCTGTGCCCCTTGAGTCTGTGTGCCCGTGAGTCTCTGCCCCATGA GCCTGTGTGCTCTGAATCTGTGCCCCGTGAGCCTGTGTGCTCCGTGAGTC TGTGCCCCGTGAGCCTGTGTGCCCCGTGAGCCTGTGTGTCCCGTGAGCCA TGTGCCTCATGACTCTGTGCCCCGTGAGCCTGTGTGCCCTGTGAGTCTAT GCCCCATGAGCATGTGTGCCCCATGACTCTGCGCCCCATGACTCTGCGCC CCATGACTCTGTGCCCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0110 a0002c0001t0007g0110	1	114	0.0088	316	c.116 others(335): Show c.116-66359_116-66358insGGGGCACAGAGTCATGGGGCGCAGAG TCATGGGGCGCAGAGTCATGGGGCACACATGCTCATGGGGCATAGACTCA CAGGGCACACAGGCTCACGGGGCACAGAGTCATGAGGCACATGGCTCACG GGACACACAGGCTCACGGGGCACACAGGCTCACGGGGCACAGACTCACGG AGCACACAGGCTCACGGGGCACAGATTCAGAGCACACAGGCTCATGGGGC AGAGACTCACGGGCACACAGACTCAAGGGGCACAGAGTCATGGGGCACAC AGGCTCACAGGGCACAGAGTCACAGGGCACACAGGCTCAC	GRIK3	ENSG00000163873.10	transcript	ENST00000373091.8	protein_coding	1/15			chr1	TogoVar
GRM5_chr11_88499642_89070982	88506963	T T	TAAGGCTG others(309): Show TAAGGCTGGGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01074.hp1 HG02280.hp1 others(3): Show HG00741.hp1 HG01074.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0001t0029 a0001c0006t0017 a0001c0001t0006 a0001c0001t0029 a0001c0006t0017	a0001c0001t0006g0010 a0001c0001t0006g0125 a0001c0001t0006g0165 others(3): Show a0001c0001t0006g0010 a0001c0001t0006g0125 a0001c0001t0006g0165 a0001c0001t0006g0177 a0001c0001t0029g0171 a0001c0006t0017g0158	6	184	0.0326	316	c.16 others(327): Show c.1628_*1629insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGACCCAGCCTT	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	10/10	1628		chr11	TogoVar
GRM7_chr3_6856115_7746533	7088683	T T	TCACTGAT others(309): Show TCACTGATTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA ACTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTGCAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCCCCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01981.hp2 HG02145.hp1 others(2): Show HG01433.hp1 HG01981.hp2 HG02145.hp1 HG02559.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0009 others(2): Show a0001c0001 a0001c0005 a0001c0009 a0001c0010 a0002c0006	a0001c0001t0002 a0001c0005t0008 a0001c0009t0001 others(2): Show a0001c0001t0002 a0001c0005t0008 a0001c0009t0001 a0001c0010t0002 a0002c0006t0007	a0001c0001t0002g0064 a0001c0005t0008g0028 a0001c0009t0001g0049 others(2): Show a0001c0001t0002g0064 a0001c0005t0008g0028 a0001c0009t0001g0049 a0001c0010t0002g0077 a0002c0006t0007g0027	5	80	0.0625	316	c.520 others(335): Show c.520-57757_520-57756insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAACTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCCCCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCACTGATTTCTT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7572895	C C	CGGGCGTG others(309): Show CGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGC AGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGA AACCCCGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGG CACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACTCCAG CCTGGGCAAAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp1 HG02895.hp2 others(2): Show HG01258.hp1 HG01981.hp1 HG02895.hp2 HG03710.hp2 NA18974.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0017 a0002c0006 a0001c0001 a0001c0017 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0017t0001 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0002g0064 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0002g0064 a0001c0017t0001g0041 a0002c0006t0001g0007	5	80	0.0625	316	c.151 others(335): Show c.1516-5527_1516-5526insGGGCGTGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCA GAGATCGCGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTCTGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	7/9			chr3	TogoVar
GSE1_chr16_85608322_85681200	85653191	C C	CCCTCTCT others(309): Show CCCTCTCTCCCCCCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCC CCCCTCCCACTCCTCCCCCCTCCTCCCCCCTCCCCCCCTCCTCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCCCTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0211 a0001c0002t0006g0211	1	290	0.0035	316	c.427 others(333): Show c.427-1083_427-1082insTCTCCCCCCCTCCCCCTCCTCCCTCCTC CTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCCTCC CCCCCTCCTCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCCC others(309): Show TCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCTCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCTC TCCTCCCCCCTCCTCCTCTCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0025 a0025	a0025c0038 a0025c0038	a0025c0038t0013 a0025c0038t0013	a0025c0038t0013g0089 a0025c0038t0013g0089	1	290	0.0035	316	c.427 others(333): Show c.427-1062_427-1061insTCCCCCCTCCTCCTCCCCCCTCCTCCCC CCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCCCCCTCCTCCTCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCTCCCCTCTCCTCCCCCCTCCTCCTCTCCCCTCCTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GTDC1_chr2_143933068_144337512	144259808	C C	CCCCAGAC others(309): Show CCCCAGACTGGAATTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGGCGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	124	0.0081	316	c.-15 others(337): Show c.-150-24072_-150-24071insCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGCCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAGAAAATTCCAGTCTGGG	GTDC1	ENSG00000121964.15	transcript	ENST00000682281.1	protein_coding	1/11			chr2	TogoVar
GTF2H5_chr6_158163350_158204344	158169680	T T	TGTATATT others(309): Show TGTATATTATATAATATATTGTATATTATATAATATATTGTATATTGTAT ATTATATATAATATATTGTATATTATATATAATATATTGTATATTATATA TAATATATTGTATATTATATATTATATAATATATTGTATATTATATATTA TATAATATATTGTATATTATATAATATATTGTATATTATATATTATATAA TATATTGTATATTATATATTATATAATATATTGTATATTATATATTATAT AATATATTGTATATTATATATTATATAATATATAATATACAATATATTAT ATAATATATAATATACA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0153 a0001c0001t0046g0153	1	384	0.0026	316	c.-34 others(331): Show c.-34-790_-34-789insGTATATTATATAATATATTGTATATTATAT AATATATTGTATATTGTATATTATATATAATATATTGTATATTATATATA ATATATTGTATATTATATATAATATATTGTATATTATATATTATATAATA TATTGTATATTATATATTATATAATATATTGTATATTATATAATATATTG TATATTATATATTATATAATATATTGTATATTATATATTATATAATATAT TGTATATTATATATTATATAATATATTGTATATTATATATTATATAATAT ATAATATACAATATATTATATAATATATAATATACA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2			chr6	TogoVar
GUCY1A2_chr11_106669019_107023476	106787587	A A	AGGAAGGG others(309): Show AGGAAGGGAAGGGGAGGGTGAGGGAGGGGGGAGGAGGGAAGGGGGAGGGA GGAGGGTGGAGGGAAGGGGGAGGGGGGAGGGAGGAGGGAAGGGGGAGGGG GGAGGGGGAAGGGAAGGGAGGGAAGGGAAGGGTGGGGGGGGGAGGGGGAG CGGAAGGGAAGGGTCAGAGAGGAGGGGGAGGGGGAGGGAGAGAGGGAGGA GAGAGGGAGGGGAAAGGGAGGGGAAGGGAAGGGTGAGAAGGGAAGGGGAG GGGAGGGGTGGGGAAAAGGGAGGGGAAGGGCAGGGGAAGGGGAGGGGAAG GGCAGGGGAAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02630.hp1 HG04199.hp2 others(3): Show HG01169.hp1 HG02630.hp1 HG04199.hp2 NA18952.hp2 NA18993.hp2 NA19090.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0013 others(1): Show a0001c0006 a0001c0007 a0001c0013 a0001c0015	a0001c0006t0005 a0001c0006t0006 a0001c0006t0025 others(3): Show a0001c0006t0005 a0001c0006t0006 a0001c0006t0025 a0001c0007t0042 a0001c0013t0004 a0001c0015t0068	a0001c0006t0005g0210 a0001c0006t0006g0216 a0001c0006t0025g0200 others(3): Show a0001c0006t0005g0210 a0001c0006t0006g0216 a0001c0006t0025g0200 a0001c0007t0042g0128 a0001c0013t0004g0248 a0001c0015t0068g0256	6	256	0.0234	316	c.169 others(337): Show c.1693-11006_1693-11005insCCTCCCCTTCCCCTGCCCTTCCCC TCCCCTTCCCCTGCCCTTCCCCTCCCTTTTCCCCACCCCTCCCCTCCCCT TCCCTTCTCACCCTTCCCTTCCCCTCCCTTTCCCCTCCCTCTCTCCTCCC TCTCTCCCTCCCCCTCCCCCTCCTCTCTGACCCTTCCCTTCCGCTCCCCC TCCCCCCCCCACCCTTCCCTTCCCTCCCTTCCCTTCCCCCTCCCCCCTCC CCCTTCCCTCCTCCCTCCCCCCTCCCCCTTCCCTCCACCCTCCTCCCTCC CCCTTCCCTCCTCCCCCCTCCCTCACCCTCCCCTTCCCTTCC	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7			chr11	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(309): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGGC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02165.hp2 HG03710.hp2 others(1): Show HG02040.hp1 HG02165.hp2 HG03710.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0370 others(1): Show a0001c0001t0001g0353 a0001c0001t0001g0355 a0001c0001t0001g0370 a0001c0001t0002g0192	4	410	0.0098	316	c.-43 others(327): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCGCTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(309): Show TGGATCATAATCTTCGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	428	0.0023	316	c.187 others(333): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAACGAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(309): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG GGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGG GATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01943.hp2 HG02129.hp2 others(13): Show HG00597.hp1 HG01943.hp2 HG02129.hp2 HG02818.hp2 HG03017.hp2 HG03710.hp2 HG04199.hp2 NA18612.hp1 NA18906.hp1 NA18966.hp2 NA18975.hp1 NA18981.hp1 NA18984.hp2 NA19058.hp1 NA19068.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0013 a0001c0001 a0001c0004 a0001c0013	a0001c0001t0001 a0001c0004t0001 a0001c0013t0001 a0001c0001t0001 a0001c0004t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0143 a0001c0001t0001g0144 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0326 a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0013t0001g0142	16	428	0.0374	316	c.187 others(333): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HAUS1_chr18_46099385_46133333	46112820	A A	ATATATAT others(309): Show ATATATATAATATATATAATGTGTATATATATTCCATATTATATATATAA TATATATAATGTGTATATATATTCCATATTATATATATAATATATATAAT GTGTATATATATTCCATATTATATATAATATATATAATGTGTATATATAT TCCATATTATATATATAATATATATAATGTGTATATATATTCCATATTAT ATATATAATATATATAATGTGTATATATATTCCATATTATATATATAATA TATATAATGTGTATATATATTCCATATTATATATATAATATATATAATGT GTATATATATTCCATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	372	0.0027	316	c.206 others(333): Show c.206-5321_206-5320insTATATATAATATATATAATGTGTATATA TATTCCATATTATATATATAATATATATAATGTGTATATATATTCCATAT TATATATAATATATATAATGTGTATATATATTCCATATTATATATATAAT ATATATAATGTGTATATATATTCCATATTATATATATAATATATATAATG TGTATATATATTCCATATTATATATATAATATATATAATGTGTATATATA TTCCATATTATATATATAATATATATAATGTGTATATATATTCCATATTA TATATAATATATATAATGTGTATATATATTCCATATTA	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(309): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0046 a0001c0001t0012g0046	1	354	0.0028	316	c.234 others(331): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC AGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCGCTGTTCTTTCTT	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27			chr2	TogoVar
HIKESHI_chr11_86297240_86350943	86307958	T T	TATAAAAT others(309): Show TATAAAATATATATTATGTGTAATATATATTATATAAAATATATATTATG TGTAATATACATTATATAAAATATATATTATGTGTAATATACATTATATA AAATATATATTATGTGTAATATACATTATATAAATATATATTATGTGTAA TATACAATATATAAAATATATATTATGTGTAATATACAATATATAAAATA TATATTATGTGTAATATATAATATATAAAATATATATTATGTGTAATATA ATATATAAAATATATATTATGTGTAATATATATTATATAAAATATATATT ATGTGTAATATATATTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18906.hp1 HG02809.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0354 a0001c0001t0001g0355	2	398	0.0050	316	c.268 others(333): Show c.268+1476_268+1477insATAAAATATATATTATGTGTAATATATA TTATATAAAATATATATTATGTGTAATATACATTATATAAAATATATATT ATGTGTAATATACATTATATAAAATATATATTATGTGTAATATACATTAT ATAAATATATATTATGTGTAATATACAATATATAAAATATATATTATGTG TAATATACAATATATAAAATATATATTATGTGTAATATATAATATATAAA ATATATATTATGTGTAATATAATATATAAAATATATATTATGTGTAATAT ATATTATATAAAATATATATTATGTGTAATATATATTA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4			chr11	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(309): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG00639.hp1 others(23): Show HG00423.hp1 HG00597.hp1 HG00639.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02165.hp2 NA18947.hp1 NA18948.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18969.hp1 NA18973.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19062.hp2 NA19066.hp2 NA19074.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0024g0033 a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0024g0033	26	348	0.0747	316	c.53 others(327): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
HRH1_chr3_11149493_11268557	11162491	T T	TGTCGGCC others(309): Show TGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGG TAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGAGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAGAACTACC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0140 a0001c0002t0007g0140	1	352	0.0028	316	c.-36 others(333): Show c.-36+7940_-36+7941insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGAGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTACCGTC	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11162491	T T	TGTCGGCC others(309): Show TGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGG CTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAAC ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGG TAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAGAACTACC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02280.hp2 others(1): Show HG02109.hp1 HG02145.hp1 HG02280.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0002g0152 a0001c0001t0005g0037 a0001c0001t0010g0034 others(1): Show a0001c0001t0002g0152 a0001c0001t0005g0037 a0001c0001t0010g0034 a0001c0001t0010g0035	4	352	0.0114	316	c.-36 others(333): Show c.-36+7940_-36+7941insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAGAACTACCGTC	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HS3ST2_chr16_22809162_22921338	22818761	A A	ATTCCTTC others(309): Show ATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTTC CGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCTTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCATTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0179 a0001c0004t0002g0179	1	350	0.0029	316	c.485 others(333): Show c.485+3678_485+3679insTTCCTTCCCTCCTTCCTTCCTTCCCTCC TTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCATT CCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCC TCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTT CCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B12_chr11_43675738_43861615	43855889	T T	TCTCAGTT others(309): Show TCTCAGTTTATTTTTTATTTTATTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACCACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0208 a0002c0002t0005g0208	1	280	0.0036	316	c.65 others(325): Show c.650_*651insTTTTTTATTTTATTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACCACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCTCAGTTTA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	11/11	651	INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43855889	T T	TCTCAGTT others(309): Show TCTCAGTTTATTTTTTATTTTATTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATG AGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0107 a0002c0002t0006g0107	1	280	0.0036	316	c.65 others(325): Show c.650_*651insTTTTTTATTTTATTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACCGCGCCCGGCCCTCAGTTTA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	11/11	651	INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43855889	T T	TCTCAGTT others(309): Show TCTCAGTTTATTTTTTATTTTATTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(91): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18982.hp2 NA19000.hp1 NA19001.hp1 NA19010.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp2 NA19068.hp1 NA19084.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 others(1): Show a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0004c0005t0002	a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0024 others(90): Show a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0039 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0101 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0202 a0002c0002t0002g0229 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0263 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0007g0146 a0002c0002t0010g0158 a0004c0005t0002g0010 a0004c0005t0002g0011	94	280	0.3357	316	c.65 others(325): Show c.650_*651insTTTTTTATTTTATTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCTCAGTTTA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	11/11	651	INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43855889	T T	TCTCAGTT others(309): Show TCTCAGTTTATTTTTTATTTTTTATTTTGTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02970.hp1 HG02451.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0206 a0002c0002t0004g0275 a0002c0002t0004g0206 a0002c0002t0004g0275	2	280	0.0071	316	c.65 others(325): Show c.650_*651insTTTTTTATTTTTTATTTTGTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCTCAGTTTA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	11/11	651	INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43855889	T T	TCTCAGTT others(309): Show TCTCAGTTTATTTTTTATTTTTTATTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCAGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0002 a0002c0002t0008g0002	1	280	0.0036	316	c.65 others(325): Show c.650_*651insTTTTTTATTTTTTATTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCAGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCTCAGTTTA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	11/11	651	INFO_REALIGN_3_PRIME	chr11	TogoVar
HSD17B12_chr11_43675738_43861615	43855889	T T	TCTCAGTT others(309): Show TCTCAGTTTATTTTTTATTTTTTATTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0201 a0002c0002t0009g0201	1	280	0.0036	316	c.65 others(325): Show c.650_*651insTTTTTTATTTTTTATTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCTCAGTTTA	HSD17B12	ENSG00000149084.13	transcript	ENST00000278353.10	protein_coding	11/11	651	INFO_REALIGN_3_PRIME	chr11	TogoVar
IFT25_chr1_53916561_53950699	53935534	G G	GCCACTGA others(309): Show GCCACTGAATTGTATATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02922.hp1 HG03130.hp2 others(2): Show HG01109.hp1 HG02922.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0153 a0001c0001t0002g0154 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155	5	282	0.0177	316	c.98+ others(331): Show c.98+4450_98+4451insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAACAAAAAAAA AAAAAAAAAAAAAAAAAAGAATATACAATTCAGTGG	IFT25	ENSG00000081870.12	transcript	ENST00000194214.10	protein_coding	2/5			chr1	TogoVar
IL3RA_chrX_1331785_1387689	1360857	G G	GTCTCTCT others(309): Show GTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCTGTCTCT CTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCT CTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCC CTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCC CTCTCTGTCTCTCTCTCCCTTCCCCTCTGTTTCTCTCTCCCTTCCCCTCT CTGTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCT CTCTCTCCCTTCCCCTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0113 a0001c0001t0003g0113	1	115	0.0087	316	c.759 others(333): Show c.759+1993_759+1994insCTCTCTCCCTTCCCCTCTCTGTCTCTCT CTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCTCT CCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTGTCTCTCTCTCCCT TCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCT CTCTGTCTCTCTCTCCCTTCCCCTCTGTTTCTCTCTCCCTTCCCCTCTCT GTCTCTCTCTCCCTTCCCCTCTCTGTCTCTCTCTCCCTTCCCCTCTCTCT CTCTCCCTTCCCCTCTCTCTCTCTCCCTTCCCCTCTCT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
INS_chr11_2154779_2166209	2161579	G G	GACCCCTG others(309): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCC CTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC GGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01175.hp2 HG02735.hp1 others(2): Show HG00673.hp2 HG01175.hp2 HG02735.hp1 HG03239.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	5	376	0.0133	316	c.-43 others(325): Show c.-430_-429insGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC CCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGA CAGGGGTCTGAGGACAGGGGTGTGGGCACAGGGGTCCTGGGGACAGGGGT CCTGGGGACAGGGGTCCTGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		371		chr11	TogoVar
IPCEF1_chr6_154149496_154361803	154264243	T T	TAAAGAAA others(309): Show TAAAGAAACACCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	264	0.0038	316	c.36+ others(331): Show c.36+1668_36+1669insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAAGGTGTTTCTTT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	3/11			chr6	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(309): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACTACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCTCCTCCTCTCCCCCCC TCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCCTC CTCCTCCCCATTCTGCT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	252	0.0040	316	c.10- others(333): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACTACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCCTCCTCCTCCCCATTCTGCTCTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQGAP2_chr5_76398285_76713132	76563975	T T	TTTCAGTC others(309): Show TTTCAGTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTTTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCACTGCAA GCTCCGCCTCCCGGGTTTACGCCATTCTCCCGCCTCAGCCTCCCGTGTAG CTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0016 a0002c0001t0016	a0002c0001t0016g0060 a0002c0001t0016g0060	1	222	0.0045	316	c.303 others(333): Show c.303+1425_303+1426insCAGTCTGTTTTTCTTTTTTTTTTTTTTT TTTTTTGAGGCGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCGACTCACTGCAAGCTCCGCCTCCCGGGTTTACGCCATTCTCCC GCCTCAGCCTCCCGTGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCG GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	3/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA6_chr2_172422586_172511459	172451994	T T	TCCTCCCT others(309): Show TCCTCCCTTCATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA19240.hp1 HG02897.hp2 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0304 a0002c0004t0007g0336 a0002c0004t0007g0304 a0002c0004t0007g0336	2	352	0.0057	316	c.183 others(335): Show c.183-13530_183-13529insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCTCCCTTCATTTTT	ITGA6	ENSG00000091409.16	transcript	ENST00000442250.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
IZUMO3_chr9_24537952_24550897	24546511	T T	TCTTTTCT others(309): Show TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	426	0.0024	316	c.-86 others(325): Show c.-863_-862insGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		615		chr9	TogoVar
JAK2_chr9_4980272_5134948	5103302	C C	CAAAGATC others(309): Show CAAAGATCAAAAGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03540.hp1 HG01981.hp2 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0022 a0001c0003t0005 a0001c0003t0022	a0001c0003t0005g0194 a0001c0003t0022g0193 a0001c0003t0005g0194 a0001c0003t0022g0193	2	364	0.0055	316	c.305 others(337): Show c.3059+12405_3059+12406insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGATCAAAAGAG	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNB2_chr8_72532225_72943349	72849150	T T	TGTAATTT others(309): Show TGTAATTTTTTTTTTTTGTTTTGTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	164	0.0061	316	c.580 others(335): Show c.580-86773_580-86772insTTTTGTTTTGTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGTAATTTTTTTT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72849150	T T	TGTAATTT others(309): Show TGTAATTTTTTTTTTTTTGTTTGTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0016 a0001c0003t0001g0016	1	164	0.0061	316	c.580 others(335): Show c.580-86773_580-86772insTTTTTGTTTGTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGTAATTTTTTTT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNB2_chr8_72532225_72943349	72849150	T T	TGTAATTT others(309): Show TGTAATTTTTTTTTTTTTTTTTGTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00741.hp1 others(19): Show HG00099.hp2 HG00140.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01884.hp1 HG02132.hp2 HG02451.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03834.hp2 HG04115.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0003t0001 a0001c0005t0004 a0001c0009t0003 a0001c0010t0009	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0025 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0098 a0001c0001t0004g0040 a0001c0001t0005g0129 a0001c0002t0002g0079 a0001c0003t0001g0009 a0001c0003t0001g0056 a0001c0005t0004g0052 a0001c0009t0003g0150 a0001c0010t0009g0112	22	164	0.1342	316	c.580 others(335): Show c.580-86773_580-86772insTTTTTTTTTGTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGTAATTTTTTTT	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCND2_chr7_120268175_120755337	120463395	T T	TTAAATTT others(309): Show TTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02080.hp1 HG02486.hp1 others(2): Show HG02056.hp1 HG02080.hp1 HG02486.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0054 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0002g0047	5	80	0.0625	316	c.111 others(339): Show c.1115+187657_1115+187658insTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAAATTTTT	KCND2	ENSG00000184408.10	transcript	ENST00000331113.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
KCNH7_chr2_162366407_162843767	162788025	A A	ACCCTAAT others(309): Show ACCCTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	100	0.0100	316	c.307 others(335): Show c.307+48511_307+48512insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTAGGG	KCNH7	ENSG00000184611.14	transcript	ENST00000332142.10	protein_coding	2/15			chr2	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(309): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATAATTCTATATATATAATATATATTATATAT AATTCTATATATATAATATATATTATATATAATTCTATATATATAATATA TATTATATATATAATTCTATATATATAATATATATTATATATATAATTCT ATATATATAATATATATTATATATATATAATTCTATATATATAATATATA TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0029 a0001c0003t0003g0029	1	80	0.0125	316	c.62- others(335): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATATAATATATATTATATATATAGAATTATA TATATAATATATATTATATATATAGAATTATATATATAATATATATTATA TATATAGAATTATATATAATATATATTATATATATAGAATTATATATAAT ATATATTATATATATAGAATTATATATAATATATATTATATATATAGAAT TATATATATAATATATATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21346215	T T	TTATATAT others(309): Show TTATATATAATTCTATATATATAATATATATTATATATATAATTCTATAT ATATAATATATATTATATATATAATTCTATATATATAATATATATTATAT ATATAATTCTATATATATAATATATATTATATATATAATTATATATATAA TATATATTATATATATATAATTCTATATATAATATATATTATATATATAA TTCTATATATAATATATATTATATATATAATTCTATATATATAATATATA TTATATATATAATTCTATATATATAATATATATTATATATATAATTCTAT ATATATAATATATATTA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18971.hp2 HG02056.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0079 a0001c0002t0001g0052 a0001c0001t0003g0079 a0001c0002t0001g0052	2	80	0.0250	316	c.62- others(335): Show c.62-463507_62-463506insTAATATATATTATATATATAGAATTA TATATATAATATATATTATATATATAGAATTATATATATAATATATATTA TATATATAGAATTATATATATAATATATATTATATATAGAATTATATATA TAATATATATTATATATAGAATTATATATATATAATATATATTATATATA TAATTATATATATAATATATATTATATATATAGAATTATATATATAATAT ATATTATATATATAGAATTATATATATAATATATATTATATATATAGAAT TATATATATAATATATATTATATATATAGAATTATATATA	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KCNIP4_chr4_20723606_21953772	21346254	T T	TAATTCTA others(309): Show TAATTCTATATATATAATATATATTATATATATAATTCTATATATATAAT ATATATTATATATATAATTATATATATAATATATATTATATATATATAAT TCTATATATAATATATATTATATATATATAATTCTATATATAATATATAT TATATATATAATTCTATATATAATATATATTATATATATAATTCTATATA TATAATATATATTATATATATAATTCTATATATATAATATATATTATATA TATAATTCTATATATATAATATATATTATATATATAATTCTATATATATA ATATATATTATATATAG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	80	0.0125	316	c.62- others(335): Show c.62-463546_62-463545insCTATATATAATATATATTATATATAT AGAATTATATATATAATATATATTATATATATAGAATTATATATATAATA TATATTATATATATAGAATTATATATATAATATATATTATATATATAGAA TTATATATATAATATATATTATATATAGAATTATATATATAATATATATT ATATATAGAATTATATATATATAATATATATTATATATAGAATTATATAT ATATAATATATATTATATATATAATTATATATATAATATATATTATATAT ATAGAATTATATATATAATATATATTATATATATAGAATT	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar

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