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
ABCA8_chr17_68862289_68960392	68958534	A A	AATATATA others(278): Show AATATATAATATAATTATATATAATATATAATATAATTATATATAATATA TAATATATAATATAATTATATATAATATATAATATAATTATATATAATAT ATAATATATAATATAATTATATATAATATATAATATAATTATATATAATA TATAATATAATTATATATAATATATAATATATAATATAATTATATATAAT ATATAATATAATTATATGTAATATATAATATATAATATAATTATATATTA TATATAATATAATTATATATTATATATAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0123 a0009c0010t0001g0123	1	274	0.0037	285	c.-34 others(296): Show c.-3483_-3482insAATTATATTATATATAATATATAATTATATTATA TATAATATATAATTATATTATATATTATATATTACATATAATTATATTAT ATATTATATATAATTATATTATATATTATATATTATATATAATTATATTA TATATTATATATAATTATATTATATATTATATATAATTATATTATATATT ATATATTATATATAATTATATTATATATTATATATAATTATATTATATAT TATATATTATATATAATTATATTATATATTATATATAATTATATTATATA T	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3143		chr17	TogoVar
ABHD12_chr20_25295214_25395835	25392144	T T	TAAAAACA others(278): Show TAAAAACATTATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0291 a0001c0001t0004g0291	1	316	0.0032	285	c.-14 others(296): Show c.-1442_-1441insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCATAATGTTTT T	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding		1310		chr20	TogoVar
ACACA_chr17_37079992_37411836	37099500	A A	AGGAGGGC others(278): Show AGGAGGGCTGATAGCAGGAGGGCTGATGGGAGGAGGGTTGATGGGAGGAG GGCTGATGGTGGGAGGGCTGATAGCAGGAGGGCTGATGGGAGGAGGGCTG ATGGGAGGAGGGCTGATAGCAGGAGGGCTGATGGGAGGAGGGCTGATGGG AGGAGGGTTGATGGGAGGAGGGCTGATGGTGGGAGGGCTGATAGCAGGAG GGCTGATGGGAGGAGGGCTGATGGGAGGAGGGCTGATAGCAGGAGGGCTG ATGGGAGGAGGGTTGATGGGAGGAGGGCTGATGGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02523.hp1 HG00408.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0226 a0001c0001t0015g0271 a0001c0001t0015g0226 a0001c0001t0015g0271	2	299	0.0067	285	c.656 others(304): Show c.6566-1517_6566-1516insCACCATCAGCCCTCCTCCCATCAACC CTCCTCCCATCAGCCCTCCTGCTATCAGCCCTCCTCCCATCAGCCCTCCT CCCATCAGCCCTCCTGCTATCAGCCCTCCCACCATCAGCCCTCCTCCCAT CAACCCTCCTCCCATCAGCCCTCCTCCCATCAGCCCTCCTGCTATCAGCC CTCCTCCCATCAGCCCTCCTCCCATCAGCCCTCCTGCTATCAGCCCTCCC ACCATCAGCCCTCCTCCCATCAACCCTCCTCCCATCAGCCCTCCTGCTAT CAGCCCTCC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	52/55			chr17	TogoVar
ADAMTS17_chr15_99966437_100346975	100058226	A A	ACCCCTAT others(278): Show ACCCCTATCCCGGCTCTAACACCCCCTATCCCGGCTCTAACCCTCCTATC CCAGCTCTTAACACCCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCT TAACACCCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCCTCCT ATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACACCCCTATCCCGGCTC TAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACACCCC TATCCCGGCTCTAACCCTCCTATCCCGGCTCTAACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01496.hp1 HG02071.hp1 others(12): Show HG00099.hp1 HG01496.hp1 HG02071.hp1 HG02109.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02698.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 NA18983.hp1 NA19056.hp1 NA19088.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0012	a0001c0007 a0001c0014 a0001c0040 others(8): Show a0001c0007 a0001c0014 a0001c0040 a0002c0001 a0002c0011 a0003c0006 a0004c0003 a0004c0029 a0005c0020 a0006c0016 a0012c0064	a0001c0007t0002 a0001c0007t0018 a0001c0014t0034 others(12): Show a0001c0007t0002 a0001c0007t0018 a0001c0014t0034 a0001c0040t0008 a0002c0001t0005 a0002c0001t0012 a0002c0001t0013 a0002c0001t0056 a0002c0011t0023 a0003c0006t0048 a0004c0003t0001 a0004c0029t0003 a0005c0020t0017 a0006c0016t0059 a0012c0064t0068	a0001c0007t0002g0057 a0001c0007t0018g0046 a0001c0014t0034g0017 others(12): Show a0001c0007t0002g0057 a0001c0007t0018g0046 a0001c0014t0034g0017 a0001c0040t0008g0192 a0002c0001t0005g0191 a0002c0001t0012g0079 a0002c0001t0013g0019 a0002c0001t0056g0075 a0002c0011t0023g0207 a0003c0006t0048g0134 a0004c0003t0001g0101 a0004c0029t0003g0020 a0005c0020t0017g0198 a0006c0016t0059g0096 a0012c0064t0068g0055	15	228	0.0658	285	c.213 others(304): Show c.2138-4173_2138-4172insGGTTAGAGCCGGGATAGGAGGGTTAG AGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCGGGAT AGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGAGGGTTA GAGCCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGAT AGGGGTGTTAAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGGGTGT TAAGAGCTGGGATAGGAGGGTTAGAGCCGGGATAGGGGGTGTTAGAGCCG GGATAGGGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500856	A A	AGGGAGGA others(278): Show AGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAG GGAGGAGGGGAGGGGGAGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGAGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGAGGAGGGAAG GGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGG GGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGA GAGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0005 a0012c0018t0005	a0012c0018t0005g0162 a0012c0018t0005g0162	1	352	0.0028	285	c.51 others(296): Show c.5158_*5159insCCTCCCCTCCTCCCCCTCCCCTCCTCCCCCTCCC TCTCCCTCCTCCCTCCTCCCCCGTCCCCTCCTCCCCGCCCTCCCCTCCTC CCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCC CCCTTCCCTCCTCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCTCTCCCC CCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCTCCCCCTCCCCTCCT CCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCTCCCCTCCTCC C	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4165		chr19	TogoVar
ADARB2_chr10_1172313_1742525	1616752	A A	ACACTGCC others(278): Show ACACTGCCATGCTGAGCTCTGCATCCTGGGAACTGGCCTCAGAGGGCTGC ATTCTGTTGCTAGATGTTTGTGTGCCCCTCCAGACACACTCCACACCGCC CTGCTGTGCTCTGCATCCTGGGAACTGGCCTCAGACGGTTGCATTCTGTC GCTAGATGTTTGTGTGCCCGTCCAGACACACTCCACACCGCCCTGCTGTG CTCTGCCTCCTGGGAACTGACCTCAGAGGGTTACATTCTGTCGCTAGATG TTTGTGTGCCCGTCCTGCCCGTCCAGACACACTCTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp2 HG02615.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0065 a0001c0001t0030g0034 a0001c0001t0001g0065 a0001c0001t0030g0034	2	106	0.0189	285	c.100 others(306): Show c.100+120298_100+120299insCAGAGTGTGTCTGGACGGGCAGGA CGGGCACACAAACATCTAGCGACAGAATGTAACCCTCTGAGGTCAGTTCC CAGGAGGCAGAGCACAGCAGGGCGGTGTGGAGTGTGTCTGGACGGGCACA CAAACATCTAGCGACAGAATGCAACCGTCTGAGGCCAGTTCCCAGGATGC AGAGCACAGCAGGGCGGTGTGGAGTGTGTCTGGAGGGGCACACAAACATC TAGCAACAGAATGCAGCCCTCTGAGGCCAGTTCCCAGGATGCAGAGCTCA GCATGGCAGTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRB3_chr6_68630282_69394506	69100856	A A	AGGAAGGA others(278): Show AGGAAGGAAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGAGGGAGGGAGG GAAGGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGA GGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGG GAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGCAGGG AGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAG GGAGGGAAGGAAGGAAGGAAGGAAGAAGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0090 a0001c0003t0001g0090	1	120	0.0083	285	c.248 others(306): Show c.2480+24831_2480+24832insAAGCGAGGGAGGGAAGGAAGGAAG GAGGGAGGGAGGGAAGGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGA GGGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAG GAGGGAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGA AGGAAGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAA GGAAGAAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGAAGGAAGGGAGGG AAGGAAGGAAG	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	69100856	A A	AGGAAGGA others(278): Show AGGAAGGAAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGAGGGAGGGAGG GAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGA AGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAGG GAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGCAGGGAGTG AGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAGGGAG GGAAGGAAGGAAGGAAGGAAGGAAGAAGGAAGGGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	120	0.0083	285	c.248 others(306): Show c.2480+24831_2480+24832insAAGCGAGGGAGGGAAGGAAGGAAG GAGGGAGGGAGGGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGA AGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGG GAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGA AGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAA GAAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGAAGGAAGGGAGGG AAGGAAGGAAG	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRL3_chr4_61195326_62083335	61847874	A A	AAAATATA others(278): Show AAAATATATTATATATATAATATAAAATATATTATATATAAAATATAAAA TATATTATATATATAATATAAAATATATTATATATATAATATAAAATATA TTATATATATAATATAAAATATATTATATATATAATATAAAATATATTAT ATATATAATATAAAATATATTATATATATAATATAAAATATATTATATAT ATAATATAAAATATATTATATATATAATATAAAATATATTATATATATAA TATAAAATATATTATATATATAATATAAAATATATT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0045 a0001c0003t0037g0045	1	58	0.0172	285	c.148 others(306): Show c.1480+33985_1480+33986insAAATATATTATATATATAATATAA AATATATTATATATAAAATATAAAATATATTATATATATAATATAAAATA TATTATATATATAATATAAAATATATTATATATATAATATAAAATATATT ATATATATAATATAAAATATATTATATATATAATATAAAATATATTATAT ATATAATATAAAATATATTATATATATAATATAAAATATATTATATATAT AATATAAAATATATTATATATATAATATAAAATATATTATATATATAATA TAAAATATATT	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26			chr4	TogoVar
ADGRL3_chr4_61195326_62083335	61847919	A A	ATATATAT others(278): Show ATATATATAATATAAAATATATTATATATATAATATAAAATATATTATAT ATATAATATAAAATATATTATATATATAATATAAAATATATTATATATAA TATAAAATATATTATATATAATATAAAATATATTATATATAATATAAAAT ATATTATATATAATATAAAATATATTATATATATAATATAAAATATATTA TATATATAATATAAAATATATTATATATATAATATAAAATATATTATATA TAATATAAAATATATTATATATAATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0025 a0001c0004t0025	a0001c0004t0025g0010 a0001c0004t0025g0010	1	58	0.0172	285	c.148 others(306): Show c.1480+34128_1480+34129insATATAAAATATATTATATATAATA TAAAATATATTATATATAATATAAAATATATTATATATAATATAAAATAT ATTATATATATAATATAAAATATATTATATATATAATATAAAATATATTA TATATATAATATAAAATATATTATATATAATATAAAATATATTATATATA ATATAAAATATATTATATATAATATAAAATATATTATATATATAATATAA AATATATTATATATATAATATAAAATATATTATATATATAATATAAAATA TATTATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
AGMO_chr7_15195317_15567015	15530017	G G	GATATTCT others(278): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACG TATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATATTCTATA TACGTATTTCCATATATTCTATATACGTATTTCCAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0215 a0001c0001t0003g0215	1	236	0.0042	285	c.409 others(304): Show c.409+14754_409+14755insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTAT ATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530109	T T	TACGTATT others(278): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTC TATATACGTATTTCCATATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATATACGTATTTCCATATAGATATTCTATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	236	0.0042	285	c.409 others(304): Show c.409+14662_409+14663insGTATAGAATATCTATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATG GAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530136	T T	TACGTATT others(278): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTC TATATACGTATTTCCATATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATACACGTATTTCCATATAGATATTCTATAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	236	0.0042	285	c.409 others(304): Show c.409+14635_409+14636insGTATAGAATATCTATATGGAAATACG TGTATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATG GAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530136	T T	TACGTATT others(278): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTC TATATACGTATTTCCATATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATATACGTATTTCCATATAGATATTCTATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01070.hp1 HG01070.hp2 others(12): Show HG00140.hp1 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01891.hp2 HG02056.hp1 HG02155.hp2 HG02559.hp2 HG02622.hp2 HG02895.hp1 HG02970.hp2 HG02976.hp2 NA19064.hp1 NA19066.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0003c0006t0002	a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 others(12): Show a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0069 a0001c0001t0002g0088 a0001c0001t0002g0178 a0001c0001t0002g0195 a0001c0001t0003g0150 a0001c0001t0005g0127 a0003c0006t0002g0033	15	236	0.0636	285	c.409 others(304): Show c.409+14635_409+14636insGTATAGAATATCTATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATG GAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530136	T T	TACGTATT others(278): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGGTATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTC TATATACGTATTTCCATATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATATACGTATTTCCATATAGATATTCTATAC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	236	0.0042	285	c.409 others(304): Show c.409+14635_409+14636insGTATAGAATATCTATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACG TATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATACCTATATGGAAATACGTATATAGAATATCTATATG GAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15530163	T T	TACGTATT others(278): Show TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATATTC TATATACGTATTTCCATATATTCTATATACGTATTTCCATATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGAT ATTCTATACACGTATTTCCATATAGATATTCTATAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02129.hp1 HG02273.hp2 others(1): Show HG00423.hp2 HG02129.hp1 HG02273.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0105 others(1): Show a0001c0001t0002g0096 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0108	4	236	0.0170	285	c.409 others(304): Show c.409+14608_409+14609insGTATAGAATATCTATATGGAAATACG TGTATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATG GAAATACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAA TACGTATATAGAATATATGGAAATACGTATATAGAATATCTATATGGAAA TACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATG GAAATACGT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHRR_chr5_316714_443285	402282	T T	TGGAAGGC others(278): Show TGGAAGGCAGTCGTTGATGAGGGTGTGGAGAGAAGGGGACCCTCGTGCAC TGTTGGCGGGAAGGCAGTCGTTGATGAGGGTGTGGAGAGAAGGGGACCCT CGTGCACTGTTGGCGGGAAGGCAGTCGTTGTTGAGGGTGTGGAGAGAAGG GGACCCTCGTGCACTGTTGGCGGGAAGGCAGTCGTTGTTGAGGGTGTGGA GAGAAGGGGACCCTCGTGCACTGTTGGCGGGAAGGCAGTCGTTGTTGAGG GTGTGGAGAGAAGGGGACCCTCGTGCACTGTTGGCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02723.hp2 HG02896.hp2 others(2): Show HG02257.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 NA20300.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0014 a0004c0003t0027 a0004c0003t0014 a0004c0003t0027	a0004c0003t0014g0220 a0004c0003t0014g0236 a0004c0003t0014g0240 others(2): Show a0004c0003t0014g0220 a0004c0003t0014g0236 a0004c0003t0014g0240 a0004c0003t0014g0244 a0004c0003t0027g0092	5	268	0.0187	285	c.352 others(304): Show c.352-10819_352-10818insTTGAGGGTGTGGAGAGAAGGGGACCC TCGTGCACTGTTGGCGGGAAGGCAGTCGTTGATGAGGGTGTGGAGAGAAG GGGACCCTCGTGCACTGTTGGCGGGAAGGCAGTCGTTGATGAGGGTGTGG AGAGAAGGGGACCCTCGTGCACTGTTGGCGGGAAGGCAGTCGTTGTTGAG GGTGTGGAGAGAAGGGGACCCTCGTGCACTGTTGGCGGGAAGGCAGTCGT TGTTGAGGGTGTGGAGAGAAGGGGACCCTCGTGCACTGTTGGCGGGAAGG CAGTCGTTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK5_chr1_77277019_77564966	77367815	T T	TATATAAT others(278): Show TATATAATATATGTTATATATTATATATAATATATGTTATATATTATATA TAATATATGTTATATATTATATATAATATATGTTATATATTATATATAAT ATATGTTATATATTATATATAATATATGTTATATATTATATATAATATAT GTTATATATTATATATAATATATGTTATATATTATATATAATATATGTTA TATATTATATATAATATATGTTATATATATTATATATTATATGTTATATA TATTATATATTATATGTTATATATATTATATATAAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	284	0.0035	285	c.891 others(304): Show c.891+27252_891+27253insATATATGTTATATATTATATATAATA TATGTTATATATTATATATAATATATGTTATATATTATATATAATATATG TTATATATTATATATAATATATGTTATATATTATATATAATATATGTTAT ATATTATATATAATATATGTTATATATTATATATAATATATGTTATATAT TATATATAATATATGTTATATATTATATATAATATATGTTATATATATTA TATATTATATGTTATATATATTATATATTATATGTTATATATATTATATA TAACATATA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANO9_chr11_412938_447011	431500	C C	CGTGGGTA others(278): Show CGTGGGTATCTGGGGGGGCATCTGCGGCGGGTGTGGGGGCGTCCGCGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGTCTCCCGTGGGTATCTGGGGGC GTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCTTCCGTGGGG GTGTGGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGG CTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0001 a0028c0019t0001	a0028c0019t0001g0079 a0028c0019t0001g0079	1	286	0.0035	285	c.539 others(300): Show c.539+193_539+194insAGACGCCCCCACACCCCCGCGGAAGCCCCC AGATACCCACGGGAGCCCCCACACCCCCCGCGGACGCCCCCAGATACCCA CGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACGCCCC CCACACCCCCACGGAAGCCCCCAGATACCCGCGGGAGCCCCCACACCCCC GCAGACGCCCCCAGATACCCACGGGAGACCCCACACCCCCGCGGAAGCCC CCAGATACCCGCGGACGCCCCCACACCCGCCGCAGATGCCCCCCCAGATA CCCAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144687156	C C	CCCCCGTG others(278): Show CCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACG CACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCA CTTCTCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGT GACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGCACTGGC GGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCTCA CCCCCGTGACCACACACTGGCGGCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	246	0.0041	285	c.-15 others(296): Show c.-1553_-1552insTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGG GGTGAGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGA AGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAG TGCGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG G	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1311		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687327	C C	CTTCCCAC others(278): Show CTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTG ACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCAC CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACA CTAGCAGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCCGTGACCACACACTGGCGGCGACCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	246	0.0041	285	c.-17 others(296): Show c.-1724_-1723insATGGTCGCCGCCAGTGTGTGGTCACGGGGGTGGG AAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCT AGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGG GGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTG GTCACGGGGGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGA A	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1482		chr8	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(278): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19005.hp1 HG04184.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0117 a0001c0001t0001g0063 a0001c0001t0001g0117	2	280	0.0071	285	c.-14 others(300): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(278): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	280	0.0036	285	c.-14 others(300): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGAGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(278): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	280	0.0036	285	c.-14 others(300): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCAGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(278): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	280	0.0036	285	c.-14 others(300): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(278): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03540.hp2 HG02258.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0180 a0001c0001t0001g0181	2	280	0.0071	285	c.-14 others(300): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(278): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(146): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02572.hp1 HG02683.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(107): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0002g0094 a0001c0001t0003g0146	149	280	0.5321	285	c.-14 others(300): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(278): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	280	0.0036	285	c.-14 others(300): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(278): Show AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18969.hp2 NA19055.hp1 others(1): Show NA18954.hp2 NA18969.hp2 NA19055.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0108 a0001c0001t0001g0009 a0001c0001t0001g0108	4	280	0.0143	285	c.-14 others(300): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(278): Show AGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCT GGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTG GCCAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	280	0.0036	285	c.-14 others(300): Show c.-14-801_-14-800insTAGGGGCGGCCGGGCAGAGGTGCCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACCCCTCCACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARL13A_chrX_100964708_100995831	100972874	A A	AGTAGGGG others(278): Show AGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGTGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGCTG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	280	0.0036	285	c.-14 others(300): Show c.-14-801_-14-800insTAGGGGCGGCTGGGCAGAGGCGCCCCTCAC CTCCCAGACGGGGCGGCTGGCCGGGTGGAGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCT CCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCT CCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASAP1_chr8_130047104_130448674	130049620	G G	GGGGGCAG others(278): Show GGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAG GGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACAC ATGGGGGCAGAGGGGGAACACATGGGGGCAGAGGAGAACACATGGGGGGC AGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAAT ACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGG CAGAGGGGAATACATGGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0234 a0002c0002t0001g0234	1	308	0.0033	285	c.51 others(296): Show c.5110_*5111insATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTC TGCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCAT GTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCT CTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCC ATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTC CCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCC C	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2483		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130050198	T T	TGGGGGCA others(278): Show TGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGG CAGAGGAGAATACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGA ACACATGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGGGG GGCAGAGGAGAACACATGGGGGGCAGAGGGGAACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	308	0.0033	285	c.45 others(296): Show c.4532_*4533insGTGTTCCCCTCTGCCCCCCATGTGTTCTCCTCTG CCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGT GTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTATTCTCCTC TGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCA TGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTC CTCTGCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCTGCCCC C	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		1905		chr8	TogoVar
ASPG_chr14_104080700_104120582	104085483	A A	ACCCCGCC others(278): Show ACCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCCGCCCCCACCCCGC CAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCCGGGACCCACCCCG CCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCGG GCAGACTCCACTCCCGCCCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCG CCCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAACCCGCCCCGCCCC CCGCCAGGCCCCGCCCCGCCCCCGCCAGGCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0028	1	368	0.0027	285	c.-28 others(294): Show c.-288_-287insCCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCC GCCCCCACCCCGCCAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCC GGGACCCACCCCGCCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCT CCCACCCTCCCGGGCAGACTCCACTCCCGCCCCCCTCCCCGTGGGTGCCC CCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAA CCCGCCCCGCCCCCCGCCAGGCCCCGCCCCGCCCCCGCCAGGCCCCGCC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		216		chr14	TogoVar
ASPG_chr14_104080700_104120582	104085483	A A	ACCCCGCC others(278): Show ACCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCCGCCCCCACCCCGC CAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCCGGGACCCACCCCG CCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCGG GCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCGC CCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAACCCGCCCCGCCCCC CCGCCAGGCCCCGCCCCGCCCCCGCCAGGCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0100 a0003c0004t0003g0100	1	368	0.0027	285	c.-28 others(294): Show c.-288_-287insCCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCC GCCCCCACCCCGCCAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCC GGGACCCACCCCGCCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCT CCCACCCTCCCGGGCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCCC CGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAAC CCGCCCCGCCCCCCCGCCAGGCCCCGCCCCGCCCCCGCCAGGCCCCGCC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		216		chr14	TogoVar
ASPG_chr14_104080700_104120582	104085483	A A	ACCCCGCC others(278): Show ACCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCCGCCCCGCACCCCG CCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCTCTCTCTCCGACCCTGG ACAGTCCCCGGGACCCACCCCGCCCCCAGGTCCTGCCCCCGCCCGCCTCC GCGGGGCCTCCCACCCTCCCGGGCAGACTCCACTCCCGCCCCCTCCCCGT GGGTGCCCCCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCCCACCC CGCCATAACCCGCCCCGCCCCCCGCCAGGCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	368	0.0027	285	c.-28 others(294): Show c.-288_-287insCCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCC GCCCCGCACCCCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCTCTC TCTCCGACCCTGGACAGTCCCCGGGACCCACCCCGCCCCCAGGTCCTGCC CCCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCGGGCAGACTCCACTCCC GCCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCGCCCCCACCCCGCCAGG CCCCGCCCCACCCCGCCATAACCCGCCCCGCCCCCCGCCAGGCCCCGCC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		216		chr14	TogoVar
ASPG_chr14_104080700_104120582	104085483	A A	ACCCCGCC others(278): Show ACCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCCGCCCCGCACCCCG CCAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCCCGGGACCCACCCC GCCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCCTCCCACCCTCCCG GGCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCCCCGCCAGGCCCCG CCCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAACCCGCCCCGCCCC CCGCCAGGCCCCGCCCCGCCCCCGCCAGGCCCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0005 a0003c0004t0003g0026 a0001c0001t0001g0005 a0003c0004t0003g0026	3	368	0.0082	285	c.-28 others(294): Show c.-288_-287insCCCCGCCAGGCCCCGCCCCGCACCCCGCCAGGCCCC GCCCCGCACCCCGCCAGGCCCCGCCTCTCTCTCCGACCCTGGACAGTCCC CGGGACCCACCCCGCCCCCAGGTCCTGCCCCCGCCCGCCTCCGCGGGGCC TCCCACCCTCCCGGGCAGACTCCACTCCCGCCCCCTCCCCGTGGGTGCCC CCGCCAGGCCCCGCCCCCACCCCGCCAGGCCCCGCCCCACCCCGCCATAA CCCGCCCCGCCCCCCGCCAGGCCCCGCCCCGCCCCCGCCAGGCCCCGCC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding		216		chr14	TogoVar
ATG5_chr6_106179476_106330760	106251644	A A	AGAGGGAG others(278): Show AGAGGGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGA GAGGGAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGAGA GGGAGGGGGAGAGGGAGGGAGGGGGAGAGGGAGGGGGAGAGAGGGAGGGA GGGTAAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGA GGGAGAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGGGAGAGAGGGAGGGT GGGGGAGGGAGGGAGGGGGAGGGAGGGAGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	358	0.0028	285	c.479 others(302): Show c.479-3401_479-3400insCCCCTCCCTCCCTCCCTCCCCCTCCCTC CCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCCTCCC TCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTCCCTC TCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCCCTCCCTCCCTCTC CCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCTCCCCCTCCCCCTC CCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCCTCCCTCCCTCC CTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
ATG5_chr6_106179476_106330760	106251648	G G	GGAGGGAG others(278): Show GGAGGGAGGGAGGGAGGGAGGGAGGCGGAGAGAGGGAGAAGGGAGAGAGG GAGGGAGGGGGAGGGGGAGAGAGGGAGGGAGGGGGAGAGGGAGAGAGGGA GGGGGAGAGGGAGGGAGGGGGAGAGGGAGGGGGAGAGAGGGAGGGAGGGT AAGAGAGGGAGAGAGGGAGGGGGAGAGAGGGAGGGAGGGAGAGAGAGGGA GAGAGGGAGGGGGGAGAAAGGAGGGGGAGGGGGAGAGAGGGAGGGTGGGG GAGGGAGGGAGGGGGAGGGAGGGAGGGAGGGGGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp2 others(43): Show HG00140.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG01074.hp1 HG01106.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG02040.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02615.hp2 HG03669.hp2 NA18612.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp2 NA18968.hp2 NA18972.hp2 NA18992.hp1 NA19000.hp1 NA19003.hp2 NA19009.hp2 NA19054.hp1 NA19062.hp1 NA19064.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0004t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0020 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0006g0002 a0001c0004t0002g0015 a0001c0004t0002g0016 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0058	46	358	0.1285	285	c.479 others(302): Show c.479-3405_479-3404insTCTCCCCCTCCCTCCCTCCCTCCCCCTC CCTCCCTCCCCCACCCTCCCTCTCTCCCCCTCCCCCTCCTTTCTCCCCCC TCCCTCTCTCCCTCTCTCTCCCTCCCTCCCTCTCTCCCCCTCCCTCTCTC CCTCTCTTACCCTCCCTCCCTCTCTCCCCCTCCCTCTCCCCCTCCCTCCC TCTCCCCCTCCCTCTCTCCCTCTCCCCCTCCCTCCCTCTCTCCCCCTCCC CCTCCCTCCCTCTCTCCCTTCTCCCTCTCTCCGCCTCCCTCCCTCCCTCC CTCCCTC	ATG5	ENSG00000057663.16	transcript	ENST00000369076.8	protein_coding	5/7			chr6	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(278): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGC GGGATGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGG GCAGGAAGCCTGCAGACAAACCCACCCTCGACAGAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0007 a0001c0006t0002g0007	1	266	0.0038	285	c.297 others(302): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTTCCTGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT CCCATCCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCT GCCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCC CCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCT CCTCTGTGTATCGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCC TCTGTGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374778	A A	AAGGGAGG others(278): Show AAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGA GGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0022 a0004c0013t0002g0022	1	184	0.0054	285	c.784 others(300): Show c.784-672_784-671insGAGGAGGGAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAA GGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGTGGAAGGGAG GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAG GGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(278): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATTATATATATTTATATATATATATATTATATATATAT TTATATATATATATTATATATATATTTATATATATATATATTATATATAT ATTTATATATATATATTATATATATATTTATATATATATATTATATATAT ATTTATATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0059 a0003c0003t0001g0059	1	216	0.0046	285	c.-2- others(302): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATAAATATATATATAATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATAAATATATATATAATATATATATATATAAATATATATAATATAT ATATATATAAATATATATATAATATATATATATAAATATATATATAATAT ATATATATATAAATATATATATTATATATATATATAAATATATATATAAT ATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(278): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATTATATATATTTATATATATATATATTATATATATATTT ATATATATATATATTATATATATATTTATATATATATATATTATATATAT ATTTATATATATATATTATATATATATTTATATATATATATTATATATAT ATTTATATATATATATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	216	0.0046	285	c.-2- others(302): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATAAATATATATATAATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATAATAT ATATATATAAATATATATATAATATATATATATAAATATATATATAATAT ATATATATAAAAATATATATATTATATATATATATAAATATATATATAAT ATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCTCCTC others(278): Show CTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	330	0.0030	285	c.431 others(302): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
C20orf96_chr20_265863_295750	279065	A A	AGGGCGGG others(278): Show AGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAAGGAGGGC GGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGG GAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAC GGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGA GGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG02135.hp2 others(10): Show HG00558.hp2 HG00597.hp2 HG02135.hp2 HG02155.hp1 HG02293.hp1 HG02486.hp1 NA18945.hp2 NA18956.hp2 NA18962.hp1 NA18966.hp2 NA18969.hp2 NA18982.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0059 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0250 a0001c0001t0001g0361 a0001c0001t0001g0366 a0001c0001t0001g0368	13	410	0.0317	285	c.465 others(300): Show c.465+106_465+107insGCCCTCCCTCCCTCCATCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCG CCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCC GCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTC CGTCCCGCCCTCCTTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGT CCCTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCC CGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C8orf90_chr8_141509671_141523729	141515285	T T	TCCACACT others(278): Show TCCACACTTCCACCCACCCACCCACCCAACCATCCATCCATCCATCCACC CACACTTCCACCCACCCACTCATTCACTCCCCCACCCATCCACCCACCCA CACATTCATCCATACATCCATCCACCCACACACCTCTCTACCCACCCATC CATCCACCCATCCACCCACCCATTCACCCAACCACCCATCCATGCATCCA CCCAGGCACCCACCCATCCACCCACCCATTCACCCACCCAACCCACCTAC CCATCCATCCATCCATCCACCCATCCACCCACCCAC	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	450	0.0022	285	c.79+ others(298): Show c.79+513_79+514insCACTTCCACCCACCCACCCACCCAACCATCCA TCCATCCATCCACCCACACTTCCACCCACCCACTCATTCACTCCCCCACC CATCCACCCACCCACACATTCATCCATACATCCATCCACCCACACACCTC TCTACCCACCCATCCATCCACCCATCCACCCACCCATTCACCCAACCACC CATCCATGCATCCACCCAGGCACCCACCCATCCACCCACCCATTCACCCA CCCAACCCACCTACCCATCCATCCATCCATCCACCCATCCACCCACCCAC CCA	C8orf90	ENSG00000226490.2	transcript	ENST00000643770.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
CADM2_chr3_84953989_86079429	85614203	T T	TGATGATT others(278): Show TGATGATTCAATTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACA TGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGT GCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGC TATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATT CCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTG AGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02451.hp1 HG02559.hp2 others(1): Show HG01175.hp1 HG02451.hp1 HG02559.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0040 a0001c0001t0002 a0001c0001t0014 a0001c0001t0040	a0001c0001t0002g0023 a0001c0001t0014g0021 a0001c0001t0014g0118 others(1): Show a0001c0001t0002g0023 a0001c0001t0014g0021 a0001c0001t0014g0118 a0001c0001t0040g0024	4	146	0.0274	285	c.62- others(304): Show c.62-112303_62-112302insTTTTTTTTATTATACTCTAAGTTTTA GGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCA TGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTC CCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTG TGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCT ATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGATGATT CAATTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(278): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGAGGGGAGTGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGA GGGGGGCAGGGAAGGGGAAGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	340	0.0029	285	c.104 others(304): Show c.1045+2187_1045+2188insTCCCCCTCCCCCTCCCCTTCCCCTTC CCTGCCCCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCA CTCCCCTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCC CCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCT CCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCC CCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCT CCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGGAAG others(278): Show GGGGGAAGGGGAGGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGG GGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGGAAGGGGAGGGGAG TGGGGGGAAGGGGAGGGGAGTGGGGGGGAAGGGGAGGGGAGTGGGGGGAA GGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGA GTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGGAAGGGGAGGGGAGTGGG GGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	340	0.0029	285	c.104 others(304): Show c.1045+2187_1045+2188insTCCCCCCTCCCCTTCCCCTTCCCTGC CCCCCTCCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCC CCTCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCAC TCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCCTCCC CTTCCCCCCACTCCCCTCCCCTTCCCCCCCACTCCCCTCCCCTTCCCCCC ACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCCTC CCCTTCCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAPN11_chr6_44153820_44189401	44182285	C C	CCACACAC others(278): Show CCACACACACACACACATACACACTCACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACATACACACTCACATACAGACACAACCACACCACACACACACACACACA GACACAACCACACCACACACACACACACATACACACTCACATACAGACAC AACCACACCACACACACACACACACAGACACAACCACACCACACACACAC ACACATACACACTCACATACAGATACAACCACACCA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0397 a0002c0002t0001g0397	1	460	0.0022	285	c.193 others(302): Show c.1939-640_1939-639insTACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACACAGACACAACCACACCACACACACACACACATACACACTCACATACA GACACAACCACACCACACACACACACACACAGACACAACCACACCACACA CACACACACATACACACTCACATACAGATACAACCACACCACACACACAC ACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar

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