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
AGBL4_chr1_48527854_50028954	49947954	A A	ATATATAT others(307): Show ATATATATAAATATATATATTTATAAATATATATTTATATATATAAATAT ATATATTTATAAATATATATTTATATATATAAATATATATTTATAAATAT ATATTTATATATATAAATATATATATTTATAAATATATATTTATATATAT AAATATATATATTTATAAATATATATTTATATATAAATATATATATTTAT AAATATATATTTATATATAAATATATATTTATAAATATATATTTATATAT ATAAATATATATATTTATAAATATATATTTATATATATAAATATATATAT TTATAAATATATATT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18962.hp2 HG03710.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0030 a0001c0001t0006g0024 a0001c0001t0001g0030 a0001c0001t0006g0024	2	104	0.0192	314	c.34+ others(331): Show c.34+75808_34+75809insAATATATATTTATAAATATATATATTTA TATATATAAATATATATTTATAAATATATATATTTATATATATAAATATA TATTTATAAATATATATTTATATATAAATATATATTTATAAATATATATA TTTATATATAAATATATATTTATAAATATATATATTTATATATATAAATA TATATTTATAAATATATATATTTATATATATAAATATATATTTATAAATA TATATTTATATATATAAATATATATTTATAAATATATATATTTATATATA TAAATATATATTTATAAATATATATATTTATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGMO_chr7_15195317_15567015	15530285	T T	TAGATATT others(307): Show TAGATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATA TATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCATATAGA TATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATA TAGATATTCTATACACGTATTTCCATATAGATATTCTATACACGTATTTC CATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTA TTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTCTATATA CGTATTTCCATATAG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	236	0.0042	314	c.409 others(333): Show c.409+14486_409+14487insCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAG AATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATACGTGT ATAGAATATCTATATGGAAATACGTGTATAGAATATCTATATGGAAATAC GTATATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAA ATACGTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATAC GTATATAGAATATATGGAAATACGTATATAGAATATCT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129426721	T T	TAAATAGT others(307): Show TAAATAGTATTCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02886.hp2 HG02897.hp1 others(3): Show HG02055.hp1 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 others(1): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0006t0024	a0001c0001t0012g0114 a0001c0001t0012g0131 a0001c0001t0013g0118 others(3): Show a0001c0001t0012g0114 a0001c0001t0012g0131 a0001c0001t0013g0118 a0001c0001t0013g0119 a0001c0001t0016g0132 a0001c0006t0024g0113	6	292	0.0206	314	c.182 others(331): Show c.1829+171_1829+172insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCAT CTCAAAAAAAAAAAAAAAAAAAAAAATAGTATTCCC	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHSA1_chr14_77453093_77474472	77460457	T T	TAAAGAAG others(307): Show TAAAGAAGGGTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0124 a0001c0002t0002g0124	1	308	0.0033	314	c.271 others(329): Show c.271+663_271+664insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAGAAGGGTGC	AHSA1	ENSG00000100591.8	transcript	ENST00000216479.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
ANK2_chr4_113044653_113388736	113097093	T T	TCACTTTT others(307): Show TCACTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGAGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG02129.hp1 others(10): Show HG00544.hp2 HG00609.hp2 HG02129.hp1 HG02735.hp2 HG03491.hp1 HG03688.hp2 HG04115.hp1 NA18966.hp2 NA18986.hp2 NA18992.hp1 NA18995.hp1 NA19060.hp1 NA19086.hp1	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0013 a0016 a0018	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0009c0011 a0013c0015 a0016c0036 a0018c0029	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0009c0011t0001 a0013c0015t0001 a0016c0036t0009 a0018c0029t0001	a0001c0001t0001g0052 a0001c0001t0001g0109 a0001c0001t0001g0116 others(10): Show a0001c0001t0001g0052 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0175 a0002c0002t0001g0112 a0002c0003t0001g0050 a0002c0003t0001g0060 a0002c0003t0001g0165 a0009c0011t0001g0105 a0013c0015t0001g0118 a0016c0036t0009g0146 a0018c0029t0001g0140	13	178	0.0730	314	c.84+ others(331): Show c.84+47296_84+47297insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGAGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCACTTTTCCTTTTTT	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK2_chr4_113044653_113388736	113097093	T T	TCACTTTT others(307): Show TCACTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG00738.hp1 others(50): Show HG00280.hp1 HG00639.hp2 HG00738.hp1 HG01106.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02735.hp1 HG02738.hp2 HG02970.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18960.hp1 NA18964.hp1 NA18977.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0012 a0014 a0017	a0001c0001 a0001c0004 a0001c0010 others(13): Show a0001c0001 a0001c0004 a0001c0010 a0001c0013 a0002c0002 a0002c0003 a0002c0022 a0002c0035 a0003c0024 a0004c0005 a0005c0009 a0006c0008 a0007c0012 a0012c0021 a0014c0025 a0017c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0004t0001 a0001c0010t0001 a0001c0013t0005 a0002c0002t0001 a0002c0003t0001 a0002c0022t0001 a0002c0035t0001 a0003c0024t0001 a0004c0005t0001 a0005c0009t0001 a0006c0008t0001 a0007c0012t0001 a0012c0021t0001 a0014c0025t0001 a0017c0028t0001	a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0023 others(50): Show a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0003g0124 a0001c0001t0006g0065 a0001c0004t0001g0003 a0001c0004t0001g0083 a0001c0010t0001g0024 a0001c0013t0005g0096 a0002c0002t0001g0002 a0002c0002t0001g0026 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0119 a0002c0002t0001g0167 a0002c0003t0001g0048 a0002c0003t0001g0057 a0002c0003t0001g0115 a0002c0003t0001g0172 a0002c0022t0001g0012 a0002c0035t0001g0169 a0003c0024t0001g0100 a0004c0005t0001g0068 a0005c0009t0001g0029 a0005c0009t0001g0128 a0006c0008t0001g0011 a0007c0012t0001g0148 a0012c0021t0001g0070 a0014c0025t0001g0094 a0017c0028t0001g0084	53	178	0.2978	314	c.84+ others(331): Show c.84+47296_84+47297insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAACCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCACTTTTCCTTTTTT	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK3_chr10_60021298_60394875	60365086	T T	TAAAAAAT others(307): Show TAAAAAATAGATGCTCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTG GGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	192	0.0052	314	c.114 others(333): Show c.114+24338_114+24339insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGAGCATCTATTTTTT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	1/43			chr10	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGTAT others(307): Show ATATGTATACTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATATTTTTATATAAAATATC AGTATTTTATGTATATTATATGTGCTATATGATATACACGTATCATATGC CATGATATACGTATATTATACATCATATATAAAAACATTTTTATATAAAA TATCAGTATTTTATGTATATTATATGTGCTATATGATATACACGTATCAT ATGCCATGATATACGTATATTATACATCATATATAAAAACATTTTTATAT AAAATATCAGTATTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0117 a0001c0001t0004g0117	1	350	0.0029	314	c.181 others(331): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATGTT TTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGTAT ATCATATAGCACATATAATATACATAAAATACTGATATTTTATATAAAAA TGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGATACGT GTATATCATATAGCACATATAATATACATAAAATACTGATATTTTATATA AAAATATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATG ATACGTGTATATCATATAGCACATATAGTATACATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANLN_chr7_36384862_36458791	36394633	T T	TAAGAAGA others(307): Show TAAGAAGAGTAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGTGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	408	0.0025	314	c.19- others(329): Show c.19-1622_19-1621insGCCGGGCGCAGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGTGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAGAAGAGTAG	ANLN	ENSG00000011426.11	transcript	ENST00000265748.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANO7_chr2_241183677_241230976	241218126	G G	GGCCGGGG others(307): Show GGCCGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGCAGCGGGGG CGCGCAGGGGCGGGCCGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGG GGCAGCAGGGGCGCGTAGGGGGCGGGGCGGGGGGGCAGCGGGGGCGCGCA GGGGCGGGGCGGGGGGCAGCGGGGGGCGCGCAGGGGCGGAGCGGGGGCGC GCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGGCGGGGG GGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGG GGCGGGGCGGGGGGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0025 a0025	a0025c0043 a0025c0043	a0025c0043t0001 a0025c0043t0001	a0025c0043t0001g0026 a0025c0043t0001g0026	1	396	0.0025	314	c.217 others(331): Show c.2179-113_2179-112insGCCGGGGGCAGCGGGGGCGCGCAGGGGC GGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGCCGGGGGCAGCGGGG GCGCGCAGGGGCGGGGCGGGGGGCAGCAGGGGCGCGTAGGGGGCGGGGCG GGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGGCGC GCAGGGGCGGAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGC GCGCAGGGGCGGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGG GGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGC	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24			chr2	TogoVar
AP3D1_chr19_2095988_2156566	2128784	C C	CCCCACAG others(307): Show CCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCT CCGACACTGCACCCCGTGGAGCTGGCCCGCCCCACAGCTCCGACACTGCA CCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAG CCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCC CCGCCGCTCCGACACTGCACCCCGTGGAGCTGGCCCGCCCCACAGCTCCG ACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCC CGTGGAGCCGGCCCG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0050 a0001c0003t0002g0050	1	406	0.0025	314	c.806 others(329): Show c.806+305_806+306insCGGGCCGGCTCCACGGGGTGCAGTGTCGGA GCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCG GGCCAGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCC ACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCT GTGGGGCGGGCCAGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGG CCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
APOC4_chr19_44937237_44950496	44938194	G G	GTTTTTTT others(307): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTTTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGACCGGCTAATTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02897.hp2 HG02809.hp2 HG02897.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0001 a0001c0001t0002 a0003c0003t0001	a0001c0001t0002g0003 a0003c0003t0001g0003 a0001c0001t0002g0003 a0003c0003t0001g0003	2	398	0.0050	314	c.-40 others(325): Show c.-4084_-4083insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTTTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGACCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTGT	APOC4	ENSG00000267467.4	transcript	ENST00000592954.2	protein_coding		4042		chr19	TogoVar
ARFGAP3_chr22_42791502_42862273	42818816	T T	TTCTTTCT others(307): Show TTCTTTCTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACGACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01515.hp2 NA18982.hp2 others(1): Show HG01081.hp2 HG01515.hp2 NA18982.hp2 NA19063.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0037 a0001c0003t0002g0087 a0001c0003t0002g0088 others(1): Show a0001c0003t0002g0037 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0339	4	362	0.0111	314	c.813 others(329): Show c.813-960_813-959insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAACAGAAAGA	ARFGAP3	ENSG00000242247.11	transcript	ENST00000263245.10	protein_coding	9/15			chr22	TogoVar
ARHGDIB_chr12_14937031_14966601	14951698	T T	TAAAACAT others(307): Show TAAAACATTGAGGAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGATAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAAA TAGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	464	0.0022	314	c.-12 others(329): Show c.-12-975_-12-974insTTTTTTTTTTTTTTTTTTGAGATGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCTATTTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTATCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTCTCCTCAATGTTTT	ARHGDIB	ENSG00000111348.9	transcript	ENST00000228945.9	protein_coding	1/5			chr12	TogoVar
ARL16_chr17_81676187_81688797	81683623	T T	TAAAGGGT others(307): Show TAAAGGGTGAGTCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03579.hp1 HG02965.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	444	0.0045	314	c.62- others(325): Show c.62-30_62-29insTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGGGACTCACCCTTT	ARL16	ENSG00000214087.9	transcript	ENST00000622299.5	protein_coding	1/4			chr17	TogoVar
ARMH3_chr10_101840599_102061173	101976000	C C	CAAAAAAT others(307): Show CAAAAAATTAGCGGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAC TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCCTCCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01070.hp1 HG01071.hp2 HG00408.hp1 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0176 a0001c0001t0003g0186 a0001c0001t0003g0099 a0001c0001t0003g0176 a0001c0001t0003g0186	3	262	0.0115	314	c.140 others(331): Show c.1407-701_1407-700insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGG AGGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAGTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCCCCGCTAATTTTTT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	19/25			chr10	TogoVar
ARSA_chr22_50617754_50633152	50630212	T T	TGAAAGCT others(307): Show TGAAAGCTTGAGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	460	0.0022	314	c.-24 others(325): Show c.-2434_-2433insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGACCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAACTCAAGCTTTC	ARSA	ENSG00000100299.18	transcript	ENST00000216124.10	protein_coding		2061		chr22	TogoVar
ART1_chr11_3640128_3669416	3653799	A A	ATCCTCAC others(307): Show ATCCTCACTGCCATTCTCCCATCAGACATCAGTCTTGTAAATTCCACCTC CTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTATTG TAAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAG ACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCC ATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTC TGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACC TCCTACCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	394	0.0025	314	c.-52 others(331): Show c.-52-5333_-52-5332insGTCTTGTAAATTCCACCTCCTACCTCTG TCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTATTGTAAATTCCA CCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGT CTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCA TCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCAC TGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTC TGTCTGTCCTCACTGCCATTCTCCCATCAGACATCA	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART3_chr4_76069709_76117786	76072656	T T	TAAAACCT others(307): Show TAAAACCTGTGATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAACGAGACTCCGT CTCAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	392	0.0026	314	c.-21 others(325): Show c.-2173_-2172insAAAACCTGTGATTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGAC AGAACGAGACTCCGTCTCAAAAAAAAAAAA	ART3	ENSG00000156219.18	transcript	ENST00000355810.9	protein_coding		2052		chr4	TogoVar
ART3_chr4_76069709_76117786	76072656	T T	TAAAACCT others(307): Show TAAAACCTGTGATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02615.hp1 others(5): Show HG02258.hp1 HG02572.hp2 HG02615.hp1 HG02723.hp1 HG03471.hp2 HG06807.hp2 NA19043.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0237 a0001c0001t0001g0270 a0003c0003t0001g0236	8	392	0.0204	314	c.-21 others(325): Show c.-2173_-2172insAAAACCTGTGATTTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGTGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAA	ART3	ENSG00000156219.18	transcript	ENST00000355810.9	protein_coding		2052		chr4	TogoVar
ATG10_chr5_81967023_82261133	81993359	C C	CTTTCCTT others(307): Show CTTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0189 a0003c0003t0001g0189	1	226	0.0044	314	c.108 others(331): Show c.108+5681_108+5682insTTTCCTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7			chr5	TogoVar
ATOH7_chr10_68225595_68237113	68235133	T T	TAGAATTA others(307): Show TAGAATTAGCAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	386	0.0026	314	c.-34 others(325): Show c.-3457_-3456insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCAAAATTGCTAATTCT	ATOH7	ENSG00000179774.9	transcript	ENST00000373673.5	protein_coding		3021		chr10	TogoVar
ATP10A_chr15_25673712_25868327	25698006	T T	TAAAGAAA others(307): Show TAAAGAAAGTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	300	0.0033	314	c.276 others(333): Show c.2761-2861_2761-2860insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCAACTTTCTTT	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	13/20			chr15	TogoVar
ATP10D_chr4_47480275_47598486	47494500	T T	TAAAGTTA others(307): Show TAAAGTTAGATTATCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGC GGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp1 NA20805.hp2 HG00280.hp1 HG01109.hp1 NA20805.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0010c0012 a0001c0003 a0010c0012	a0001c0003t0001 a0010c0012t0006 a0001c0003t0001 a0010c0012t0006	a0001c0003t0001g0017 a0010c0012t0006g0071 a0010c0012t0006g0072 a0001c0003t0001g0017 a0010c0012t0006g0071 a0010c0012t0006g0072	3	332	0.0090	314	c.-38 others(331): Show c.-38+8993_-38+8994insTCACGCCTGTAGTCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTA ACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGC GGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAGATTA	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP10D_chr4_47480275_47598486	47494500	T T	TAAAGTTA others(307): Show TAAAGTTAGATTATCACGCCTGTAGTCCCAGCACTTTGGGAGGCCGAGGC GGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCAGTCCGC AGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	332	0.0030	314	c.-38 others(331): Show c.-38+8993_-38+8994insTCACGCCTGTAGTCCCAGCACTTTGGGA GGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAGCATCCTGGCTA ACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGC GGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACT GCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAGATTA	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ATP11A_chr13_112685038_112892168	112866639	T T	TTCTGGGT others(307): Show TTCTGGGTGACTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0018 a0001c0001t0019g0018	1	254	0.0039	314	c.299 others(333): Show c.2991+4078_2991+4079insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCTGGGTGACTTCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112866639	T T	TTCTGGGT others(307): Show TTCTGGGTGACTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGAGGTGTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0013 a0001c0011t0001g0013	1	254	0.0039	314	c.299 others(333): Show c.2991+4078_2991+4079insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGAGGTGTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCTGGGTGACTTCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112866639	T T	TTCTGGGT others(307): Show TTCTGGGTGACTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGAGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0058 a0001c0017t0058	a0001c0017t0058g0053 a0001c0017t0058g0053	1	254	0.0039	314	c.299 others(333): Show c.2991+4078_2991+4079insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGAGGTTTCACCATTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCTGGGTGACTTCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112866639	T T	TTCTGGGT others(307): Show TTCTGGGTGACTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	254	0.0039	314	c.299 others(333): Show c.2991+4078_2991+4079insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCTGGGTGACTTCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112866639	T T	TTCTGGGT others(307): Show TTCTGGGTGACTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCACCCGGCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp1 NA19043.hp2 HG03130.hp2 HG03209.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0067 a0001c0001t0021 a0001c0001t0067	a0001c0001t0021g0092 a0001c0001t0021g0240 a0001c0001t0067g0093 a0001c0001t0021g0092 a0001c0001t0021g0240 a0001c0001t0067g0093	3	254	0.0118	314	c.299 others(333): Show c.2991+4078_2991+4079insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCACCCGGCCTCTGGGTGACTTCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112866639	T T	TTCTGGGT others(307): Show TTCTGGGTGACTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(89): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01517.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02647.hp1 HG02735.hp2 HG02738.hp1 HG02976.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18944.hp1 NA18950.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18995.hp2 NA19002.hp2 NA19005.hp2 NA19010.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0008 a0010 a0013 a0014	a0001c0001 a0001c0002 a0001c0005 others(21): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0011 a0001c0013 a0001c0014 a0001c0022 a0001c0026 a0001c0030 a0001c0031 a0001c0040 a0001c0043 a0002c0003 a0002c0010 a0003c0007 a0003c0008 a0003c0012 a0005c0018 a0006c0036 a0008c0023 a0010c0038 a0013c0033 a0014c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0019 a0001c0001t0022 a0001c0001t0054 a0001c0001t0055 a0001c0001t0060 a0001c0001t0066 a0001c0001t0072 a0001c0001t0073 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0005t0001 a0001c0006t0001 a0001c0006t0056 a0001c0006t0077 a0001c0011t0001 a0001c0011t0046 a0001c0013t0004 a0001c0014t0043 a0001c0022t0001 a0001c0026t0001 a0001c0030t0001 a0001c0031t0007 a0001c0040t0037 a0001c0043t0044 a0002c0003t0007 a0002c0003t0025 a0002c0010t0001 a0002c0010t0010 a0002c0010t0022 a0002c0010t0040 a0003c0007t0005 a0003c0008t0008 a0003c0012t0005 a0005c0018t0001 a0006c0036t0001 a0008c0023t0002 a0010c0038t0001 a0013c0033t0001 a0014c0035t0001	a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(89): Show a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0210 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0244 a0001c0001t0002g0050 a0001c0001t0002g0206 a0001c0001t0010g0002 a0001c0001t0010g0004 a0001c0001t0010g0095 a0001c0001t0010g0122 a0001c0001t0019g0142 a0001c0001t0022g0202 a0001c0001t0054g0008 a0001c0001t0055g0161 a0001c0001t0060g0138 a0001c0001t0066g0097 a0001c0001t0072g0006 a0001c0001t0073g0171 a0001c0002t0001g0102 a0001c0002t0002g0190 a0001c0002t0004g0041 a0001c0002t0007g0110 a0001c0002t0007g0237 a0001c0002t0007g0253 a0001c0005t0001g0124 a0001c0006t0001g0007 a0001c0006t0001g0070 a0001c0006t0001g0077 a0001c0006t0001g0100 a0001c0006t0001g0128 a0001c0006t0001g0134 a0001c0006t0001g0135 a0001c0006t0001g0145 a0001c0006t0001g0164 a0001c0006t0001g0182 a0001c0006t0001g0184 a0001c0006t0001g0194 a0001c0006t0056g0162 a0001c0006t0077g0159 a0001c0011t0001g0003 a0001c0011t0001g0139 a0001c0011t0046g0011 a0001c0013t0004g0035 a0001c0013t0004g0083 a0001c0013t0004g0084 a0001c0014t0043g0056 a0001c0022t0001g0196 a0001c0022t0001g0217 a0001c0026t0001g0067 a0001c0030t0001g0103 a0001c0031t0007g0160 a0001c0040t0037g0078 a0001c0043t0044g0148 a0002c0003t0007g0185 a0002c0003t0007g0186 a0002c0003t0025g0241 a0002c0010t0001g0200 a0002c0010t0001g0239 a0002c0010t0010g0222 a0002c0010t0022g0072 a0002c0010t0040g0221 a0003c0007t0005g0205 a0003c0008t0008g0245 a0003c0012t0005g0243 a0005c0018t0001g0009 a0005c0018t0001g0168 a0006c0036t0001g0187 a0008c0023t0002g0064 a0010c0038t0001g0076 a0013c0033t0001g0166 a0014c0035t0001g0029	92	254	0.3622	314	c.299 others(333): Show c.2991+4078_2991+4079insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCTGGGTGACTTCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112866639	T T	TTCTGGGT others(307): Show TTCTGGGTGACTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGATGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02895.hp1 HG03540.hp2 HG02559.hp2 HG02895.hp1 HG03540.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0039 a0001c0001 a0009c0039	a0001c0001t0023 a0009c0039t0069 a0001c0001t0023 a0009c0039t0069	a0001c0001t0023g0157 a0001c0001t0023g0158 a0009c0039t0069g0044 a0001c0001t0023g0157 a0001c0001t0023g0158 a0009c0039t0069g0044	3	254	0.0118	314	c.299 others(333): Show c.2991+4078_2991+4079insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGATGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCTGGGTGACTTCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112866639	T T	TTCTGGGT others(307): Show TTCTGGGTGACTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp2 HG02258.hp2 HG03486.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0002 a0004c0015t0002	a0004c0015t0002g0052 a0004c0015t0002g0087 a0004c0015t0002g0052 a0004c0015t0002g0087	2	254	0.0079	314	c.299 others(333): Show c.2991+4078_2991+4079insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCTGGGTGACTTCT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112866639	T T	TTCTGGGT others(307): Show TTCTGGGTGACTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01358.hp2 NA18944.hp2 others(2): Show HG00597.hp2 HG01358.hp2 NA18944.hp2 NA19007.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0026 a0001c0001t0052 a0001c0001t0064 others(2): Show a0001c0001t0026 a0001c0001t0052 a0001c0001t0064 a0001c0006t0001 a0001c0011t0065	a0001c0001t0026g0227 a0001c0001t0052g0176 a0001c0001t0064g0220 others(2): Show a0001c0001t0026g0227 a0001c0001t0052g0176 a0001c0001t0064g0220 a0001c0006t0001g0098 a0001c0011t0065g0130	5	254	0.0197	314	c.299 others(333): Show c.2991+4076_2991+4077insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTCTGGGTGACTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATRNL1_chr10_115088365_115953999	115636874	T T	TAAAAAGG others(307): Show TAAAAAGGAATGACGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0035 a0001c0006t0033g0035	1	128	0.0078	314	c.379 others(335): Show c.3795+87353_3795+87354insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGGAATGACGT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATXN7L1_chr7_105599772_105881599	105724807	T T	TCTCTTAT others(307): Show TCTCTTATTCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03669.hp2 NA18943.hp1 others(4): Show HG03490.hp2 HG03669.hp2 NA18943.hp1 NA18945.hp2 NA18950.hp2 NA18995.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0004t0010	a0001c0001t0001g0085 a0001c0001t0003g0011 a0001c0001t0009g0054 others(4): Show a0001c0001t0001g0085 a0001c0001t0003g0011 a0001c0001t0009g0054 a0001c0001t0010g0032 a0001c0001t0011g0101 a0001c0001t0013g0129 a0001c0004t0010g0154	7	252	0.0278	314	c.356 others(333): Show c.356-59520_356-59519insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGT GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAGAGAATAAGAG	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	3/11			chr7	TogoVar
B4GALNT4_chr11_364499_387117	374688	G G	GAGGGAGG others(307): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGAGGGA GGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAGGGAGGGAGGAGGA GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAGGAAGGG AGGGAGGGAGAGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGGAG GGAGGAGGAAGGGAGGGAGGAGGGAAGGGAGGGAGGGAGGAAGGGAGGGG AGGGGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0014 a0014	a0014c0039 a0014c0039	a0014c0039t0001 a0014c0039t0001	a0014c0039t0001g0167 a0014c0039t0001g0167	1	184	0.0054	314	c.784 others(329): Show c.784-766_784-765insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAGG GAGGGAGGAGGAGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAGGAAGGGAGGGAGGGAGAGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGGAGGGAGGAGGAAGGGAGGGAGGAGGGAAGGGAGGGAGGGA GGAAGGGAGGGGAGGGGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGG	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(307): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATTATATATATTTATATATATATATATTATATATATAT TTATATATATATATATTATATATATATTTATATATATATATTATATATAT ATTTATATATATATATATTATATATATATTTATATATATATATATTATAT ATATATTTATATATATATATATTATATATATATTTATATATATATATATT ATATATATATTTATA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0001 a0017c0027t0001	a0017c0027t0001g0106 a0017c0027t0001g0106	1	216	0.0046	314	c.-2- others(331): Show c.-2-22485_-2-22484insTATAAATATATATATAATATATATATAT ATAAATATATATATAATATATATATATATAAATATATATATAATATATAT ATATATAAATATATATATAATATATATATATATAAATATATATATAATAT ATATATATAAATATATATATAATATATATATATATAAATATATATATAAT ATATATATATATAAATATATATAATATATATATATATAAATATATATATA ATATATATATATAAATATATATATAATATATATATATATAAATATATATA TTATATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(307): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTTT ATATATATATATTATATATATATTTATATATATATTATATATATATTTAT ATATATATATTATATATATTTATATATATATATATTATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATATTATATATATAT TTATATATATATATATTATATATATATTTATATATATATATATTATATAT ATATTTATATATATATATATTATATATATATTTATATATATATATATTAT ATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	216	0.0046	314	c.-2- others(331): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATATAAT ATATATATATATAAATATATATATAATATATATATATATAAATATATATA TAATATATATATATATAAATATATATAATATATATATATAAATATATATA TAATATATATATAAATATATATATAATATATATATATAAAAATATATATA TTATATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BCAT1_chr12_24805024_24954101	24837036	G G	GAAAAAAA others(307): Show GAAAAAAAGAAAGAAAAGAAAGAGAGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG01074.hp1 others(28): Show HG00544.hp1 HG00558.hp2 HG01074.hp1 HG01361.hp2 HG01993.hp1 HG02040.hp1 HG02080.hp2 HG02258.hp1 HG02280.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02886.hp1 HG02965.hp1 HG03017.hp1 HG03710.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp1 NA18971.hp2 NA18992.hp2 NA19057.hp2 NA19063.hp2 NA19085.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0047 a0001c0001t0054 a0001c0001t0060 a0001c0001t0065 a0001c0001t0072 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0097 a0001c0001t0130 a0001c0001t0131 a0001c0002t0019	a0001c0001t0001g0064 a0001c0001t0003g0003 a0001c0001t0003g0025 others(28): Show a0001c0001t0001g0064 a0001c0001t0003g0003 a0001c0001t0003g0025 a0001c0001t0003g0048 a0001c0001t0003g0074 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0277 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0228 a0001c0001t0005g0279 a0001c0001t0032g0276 a0001c0001t0037g0107 a0001c0001t0037g0254 a0001c0001t0038g0176 a0001c0001t0047g0312 a0001c0001t0047g0313 a0001c0001t0054g0174 a0001c0001t0060g0097 a0001c0001t0065g0065 a0001c0001t0072g0075 a0001c0001t0088g0099 a0001c0001t0089g0255 a0001c0001t0090g0022 a0001c0001t0097g0073 a0001c0001t0130g0317 a0001c0001t0131g0308 a0001c0002t0019g0043 a0001c0002t0019g0069 a0001c0002t0019g0172	31	322	0.0963	314	c.818 others(329): Show c.818-441_818-440insTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCTCTCTTTCTTTTCTTTCTTTTTTT	BCAT1	ENSG00000060982.15	transcript	ENST00000261192.12	protein_coding	7/10			chr12	TogoVar
BCO1_chr16_81233689_81296142	81244407	T T	TAAAAAAT others(307): Show TAAAAAATTGCGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02300.hp1 HG02683.hp1 others(2): Show HG01074.hp1 HG02300.hp1 HG02683.hp1 NA20300.hp1 NA20752.hp2	a0002 a0003 a0002 a0003	a0002c0006 a0003c0003 a0002c0006 a0003c0003	a0002c0006t0001 a0003c0003t0001 a0002c0006t0001 a0003c0003t0001	a0002c0006t0001g0150 a0002c0006t0001g0238 a0002c0006t0001g0314 others(2): Show a0002c0006t0001g0150 a0002c0006t0001g0238 a0002c0006t0001g0314 a0002c0006t0001g0315 a0003c0003t0001g0313	5	402	0.0124	314	c.65- others(329): Show c.65-1058_65-1057insGGCCGGGCGCGGTGGCTCAAGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTGC	BCO1	ENSG00000135697.10	transcript	ENST00000258168.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
BSN_chr3_49549477_49676549	49606254	A A	ATACATAT others(307): Show ATACATATATTATATATGTATATATTATATATACATATATTATATATGTA TATATTATATATACATATATTATATATGTATATATTATATATACATATAT TATATATGTATATATATAATATATACATATATTATATATGTATATATTAT ATATACATATATTATATATGTATATATTATATATAAAATATATATAATAT ATATTAAAAATATATATTATATATATTAAAAATATATATTATATATATTA AAAATATATATTATATATATTAAAATATATATATAATATATATTAAAAAT ATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0021 a0003c0003t0004g0021	1	186	0.0054	314	c.225 others(333): Show c.225-18719_225-18718insCATATATTATATATGTATATATTATA TATACATATATTATATATGTATATATTATATATACATATATTATATATGT ATATATTATATATACATATATTATATATGTATATATATAATATATACATA TATTATATATGTATATATTATATATACATATATTATATATGTATATATTA TATATAAAATATATATAATATATATTAAAAATATATATTATATATATTAA AAATATATATTATATATATTAAAAATATATATTATATATATTAAAATATA TATATAATATATATTAAAAATATATATTATATATATTA	BSN	ENSG00000164061.5	transcript	ENST00000296452.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(307): Show TGGATCATAATCTTTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG06807.hp1 NA20129.hp2 HG02965.hp2 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0036 a0001c0002t0004 a0001c0002t0036	a0001c0002t0004g0235 a0001c0002t0004g0246 a0001c0002t0036g0232 a0001c0002t0004g0235 a0001c0002t0004g0246 a0001c0002t0036g0232	3	416	0.0072	314	c.-42 others(325): Show c.-4254_-4253insGGATCATAATCTTTGTGTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
BTD_chr3_15596745_15658714	15597657	T T	TGGATCAT others(307): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01167.hp2 HG03453.hp1 HG01069.hp2 HG01167.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0247 a0001c0002t0004g0002 a0001c0002t0004g0007 a0001c0001t0004g0247 a0001c0002t0004g0002 a0001c0002t0004g0007	3	416	0.0072	314	c.-42 others(325): Show c.-4254_-4253insGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGC	BTD	ENSG00000169814.17	transcript	ENST00000643237.3	protein_coding		4087		chr3	TogoVar
C10orf90_chr10_126419997_126675693	126564835	T T	TATATATA others(307): Show TATATATATAATATATATAATATATAATATATATTATATATAATATATAT TATATATAATATATAATATATATTATATATAATATATATTATATATAATA TATATTATATATAATATATATTATATATAATATATATTATATATAATATA TATTATATATAATATATATTATATATTATATAAAATATATATTATATATA ATATATATTATATATTATATATAATATATAATATATATTATATATAATAT ATATTATATAAAATATATATTATATATAATATATATTATATATTATATAA TATATATTATATATA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0067 a0001c0008t0001g0067	1	218	0.0046	314	c.314 others(333): Show c.314-50897_314-50896insTATATATAATATATATTATATAATAT ATAATATATATTATATATAATATATATTTTATATAATATATATTATATAT AATATATATTATATATTATATATAATATATAATATATATTATATATAATA TATATTTTATATAATATATAATATATATTATATATAATATATATTATATA TAATATATATTATATATAATATATATTATATATAATATATATTATATATA ATATATATTATATATAATATATATTATATATTATATATAATATATATTAT ATATAATATATATTATATATTATATATATTATATATAT	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C1orf87_chr1_59985394_60078770	60004924	G G	GGCAGCTT others(307): Show GGCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTC TTTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCTGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GATTACAGGTGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTCAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	382	0.0026	314	c.119 others(333): Show c.1193-3769_1193-3768insTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTGAAAATA CAAAAAATTAGCCGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCAGAGATCGCGCCACTGCACTCCAGCCTGGGCAAAAGAGCGAGACTC TGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGC	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	9/11			chr1	TogoVar
C2orf76_chr2_119297225_119371834	119327896	G G	GCAAGAAT others(307): Show GCAAGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG CAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	354	0.0028	314	c.134 others(331): Show c.134-6693_134-6692insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTGCTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAATTCTTG	C2orf76	ENSG00000186132.15	transcript	ENST00000334816.12	protein_coding	2/5			chr2	TogoVar
C3_chr19_6672704_6725650	6718868	C C	CCTCAGAA others(307): Show CCTCAGAAGGGGTGGGGTCTCAGGGAAGGGAGGGACTCAGAAGGGGAGGA GTCTCAGAAGGGGTGGGGTCTCAGGGAAGGGAGGGACTCAGAAGGGGAGG AGTCTCAGAAGGGGTGGGGTCTCAGGGAAGGTCAGGGCTTAGAAGGGGAG GAGATTCAGAAGAGGAGACTTCGAGGGGGAGGGGCTTGGAAAAGGAATTC AGTGGGAGGGACTTAGAGGGGGAGGAGACTCAGAAGGGGTGGAGTCTCAG AGAAGGGGAGGAACCTCAGAAGGGGTGGGGTCTCAGGGAAGGGAGGGACT TAGAAGGGGAGGAGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0004 a0001c0063t0004	a0001c0063t0004g0362 a0001c0063t0004g0362	1	370	0.0027	314	c.267 others(329): Show c.267+342_267+343insACTCCTCCCCTTCTAAGTCCCTCCCTTCCC TGAGACCCCACCCCTTCTGAGGTTCCTCCCCTTCTCTGAGACTCCACCCC TTCTGAGTCTCCTCCCCCTCTAAGTCCCTCCCACTGAATTCCTTTTCCAA GCCCCTCCCCCTCGAAGTCTCCTCTTCTGAATCTCCTCCCCTTCTAAGCC CTGACCTTCCCTGAGACCCCACCCCTTCTGAGACTCCTCCCCTTCTGAGT CCCTCCCTTCCCTGAGACCCCACCCCTTCTGAGACTCCTCCCCTTCTGAG TCCCTCCCTTCCCTGAGACCCCACCCCTTCTGAG	C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	2/40			chr19	TogoVar
CA8_chr8_60180412_60286400	60282281	T T	TTCCTGTG others(307): Show TTCCTGTGCCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTATATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG03471.hp1 HG01884.hp1 HG02622.hp2 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0021 a0001c0005t0033 a0001c0006t0031 a0001c0005t0021 a0001c0005t0033 a0001c0006t0031	a0001c0005t0021g0091 a0001c0005t0033g0093 a0001c0006t0031g0094 a0001c0005t0021g0091 a0001c0005t0033g0093 a0001c0006t0031g0094	3	344	0.0087	314	c.-11 others(325): Show c.-1135_-1134insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATATAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAGGCACAGGA	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding		882		chr8	TogoVar
CACNA1H_chr16_1148106_1226768	1191093	T T	TCAGCAGG others(307): Show TCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCT TACTCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCTC TGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGGTCT CTCTGACCCAGCAGGCTGGCCTGGCTGTGTGGCCTCAGGCACACTCGGGG TTTCGCTGACCCAGCATGCTGGCCTGGTTGTGTGGCCTCAGGCACACTCG GGGTTTCGGTGACCCAGCAGGCTGCCCTGGCTGTGTGGCCTCAGGCACAC TCGGGGTCTCTGACC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02630.hp2 others(2): Show HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02976.hp2 HG03209.hp2	a0002 a0014 a0015 a0002 a0014 a0015	a0002c0010 a0014c0026 a0015c0017 a0002c0010 a0014c0026 a0015c0017	a0002c0010t0001 a0014c0026t0003 a0015c0017t0003 a0002c0010t0001 a0014c0026t0003 a0015c0017t0003	a0002c0010t0001g0019 a0014c0026t0003g0109 a0015c0017t0003g0107 others(2): Show a0002c0010t0001g0019 a0014c0026t0003g0109 a0015c0017t0003g0107 a0015c0017t0003g0108 a0015c0017t0003g0119	5	338	0.0148	314	c.300 others(331): Show c.300-3830_300-3829insTACTCAGCAGGCTGGCCTGGCTGTGTGG CCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCCTGGCTGTGTG GCCTCAGGCACACTCGGGGTCTCTCTGACCCAGCAGGCTGGCCTGGCTGT GTGGCCTCAGGCACACTCGGGGTTTCGCTGACCCAGCATGCTGGCCTGGT TGTGTGGCCTCAGGCACACTCGGGGTTTCGGTGACCCAGCAGGCTGCCCT GGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTGACCCAGCAGGCTGGCC TGGCTGTGTGGCCTCAGGCACACTCGGGGTCTCTCT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar

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