Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DNAH12_chr3_57288700_57549344	57390424	A A	ATATATAT others(344): Show ATATATATATATATATATATATATACACATACATATACATATATACACAT ACATATACATATATACACATACATATACATATATACACATACATATACAT ATATACACATACATATATATATACATATATATATACATATATATATACGT ATATATATATACGTGTATATATATATACATATATATATATACGTGTGTAT ATATATACACATATATATATACACGTATATATATACACATATATATATAT ACACATATATATATATACACATATATATATATACACACATATATATATAC ACACATATATATATATATACACATATATATATATACACATATATATATAT AT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	266	0.0038	351	c.730 others(370): Show c.7305+1447_7305+1448insATATATATATATATGTGTATATATAT ATATGTGTATATATATATATATGTGTGTATATATATATGTGTGTATATAT ATATATGTGTATATATATATATGTGTATATATATATATGTGTATATATAT ACGTGTATATATATATGTGTATATATATACACACGTATATATATATATGT ATATATATATACACGTATATATATATACGTATATATATATGTATATATAT ATGTATATATATATGTATGTGTATATATGTATATGTATGTGTATATATGT ATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGT GTATATATATATATATATATATATA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(344): Show TTATTGTTACCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA19060.hp2 NA18981.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0116 a0001c0001t0001g0117	2	212	0.0094	351	c.162 others(364): Show c.162+29_162+30insTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK8_chr9_209865_470255	400620	C C	CCATCACC others(344): Show CCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCATC ACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACCAC CTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCACCA CCTCCTTCACCATCACCATCACCACCACCTCCACTATCACCACCACCTCC ACCATCATCACCACCTCCACCACCACCACCACCTCCACCACCACCACCAC CTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCA CCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCATC TT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0065 a0001c0030t0001g0065	1	256	0.0039	351	c.323 others(370): Show c.3234+1363_3234+1364insTCACCACCACCTCCACCACCACCACC ACCTCCACCACCACCACCATCACCACCTCCTTCACCATCACCATCACCAC CACCTCCACCATCACCACCACCTCCACCATCACCACCTCCTCCATCACCA CCACCATCTTCACCATCACCACCTCCTTCACCATCACCATCACCACCACC TCCACTATCACCACCACCTCCACCATCATCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCA CCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCTCC TTCACCATCACCATCACCATCTTCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(344): Show ATATATACTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATACTATATATATAGTATA TATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATATAGTATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATATAGTGTATATATATAGTATATATATATAGTGT ATATATATAGTATATATATAGTATATATATAGTATATATAGTATATATGT AT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	316	0.0032	351	c.355 others(370): Show c.355-25704_355-25703insTATATACTATATATATAGTATATATA TAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTAT ATATATACTATATATATAGTATATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATAGTATATA TATAGTATATATAGTATATATGTAT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(344): Show ATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATAT AGTATATATATATAGTATATATATAGTATATATATATAGTGTATATATAT AGTATATATATAGTGTATATATAGTATATATATAGTATATATATGTATAT ATATATAGTATATATATAGTATATATATATAGTATATATATAGTATATAT ATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATAT ATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATAT AG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0071 a0001c0001t0010g0071	1	316	0.0032	351	c.355 others(370): Show c.355-25607_355-25606insGTATATATATAGTATATATATATAGT ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATAT ATAGTGTATATATATAGTATATATATAGTGTATATATAGTATATATATAG TATATATATGTATATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATATAGTATATATATAGTATATATATATAGTATAT ATATAGTATATATATATAGTATATATATAGTATATATATATAGTATATAT ATAGTATATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFCAB12_chr3_129396321_129433636	129417807	T T	TAGAAATA others(344): Show TAGAAATACAGCATCTTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0181 a0012c0012t0001g0181	1	386	0.0026	351	c.681 others(366): Show c.681+446_681+447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTCTGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAAAAGATGCTGTATTTCT	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	3/8			chr3	TogoVar
EFEMP1_chr2_55860967_55928782	55873983	T T	TAAAAACA others(344): Show TAAAAACACCTTGACCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCATTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0075 a0001c0001t0005g0075	1	350	0.0029	351	c.100 others(368): Show c.1000+962_1000+963insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCAGGTCAAGGTGTTTTT	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	9/11			chr2	TogoVar
EFR3A_chr8_131899093_132018642	131967757	G G	GGATAATA others(344): Show GGATAATATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	412	0.0024	351	c.856 others(366): Show c.856-526_856-525insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCGATAATATTTTC	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
EIPR1_chr2_3183970_3382818	3315169	C C	CCACCACC others(344): Show CCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCC CATCCACACCCCCTACCACCATCATCACCACCATCCCCATCCACAGCCCC TACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCATC ACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCA TCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTA CCACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCATCTTCAC CACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATC CA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04228.hp2 HG03688.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	250	0.0080	351	c.259 others(370): Show c.259+22847_259+22848insTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGAAGATGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGAGGATGGTGGTAGGGGCTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGT GATGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGCTGTGGATGGGGATGGTGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELMOD3_chr2_85349769_85396748	85362448	T T	TAAGATAA others(344): Show TAAGATAATTGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	386	0.0026	351	c.129 others(366): Show c.129+201_129+202insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGATAATTGCCA	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(344): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0018 a0001c0003t0002g0018	1	208	0.0048	351	c.282 others(370): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(344): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAA GT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA18906.hp1 HG02615.hp1 NA18906.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0031 a0007c0012t0001g0032 a0007c0012t0001g0031 a0007c0012t0001g0032	2	208	0.0096	351	c.282 others(370): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTC TTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(344): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGT ATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCT TTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAA GT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0199 a0001c0006t0005g0199	1	208	0.0048	351	c.282 others(370): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATA CAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTG TATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGTC TTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EPB41_chr1_28909569_29125041	29100313	C C	CAAAAAAA others(344): Show CAAAAAAATTAGCTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp2 NA19087.hp1 HG03041.hp2 HG03130.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0105 a0001c0001t0002g0162 a0001c0001t0005g0158 a0001c0001t0002g0105 a0001c0001t0002g0162 a0001c0001t0005g0158	3	312	0.0096	351	c.231 others(370): Show c.2313+2394_2313+2395insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAAAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAATTAGCTGGG	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EVA1C_chr21_32407706_32520387	32477799	C C	CACCTCCC others(344): Show CACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCC CCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCT CCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCCCCTCC CCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCCTCCCCTCCCCCGTA CGCCCTCCCCTCCCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCC TCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCTC CCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCGTA CG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0113 a0001c0002t0001g0113	1	346	0.0029	351	c.634 others(368): Show c.634+9951_634+9952insACCTCCCCCGTACGCCCTCCCCTCCCCT CCCCCGTACGCCCTCACCTCCCCCGTACGCCCTCCCCTCCCCCGTACGCC CTCACCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCT CCCCCGTACGCCCTCCCCTCCCCCGTACGCCCTCACCTCCCCCGTACGCC CTCCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCCCCGTACGCCCTCA CCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCACCTCCCC CGTACGCCCTCCCCTCCCCTCCCCCGTACGCCCTCCCCTCCCCTCCCCCG TACGCCCTCCCCTCCCCCGTACG	EVA1C	ENSG00000166979.13	transcript	ENST00000300255.7	protein_coding	4/7			chr21	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(344): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTCTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACGCCTCACCCCGGACCCA CGAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTG CCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCCCACCC CG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0073 a0003c0003t0001g0073	1	82	0.0122	351	c.218 others(368): Show c.2184+997_2184+998insCGGGGTGGGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGCGTCGGCAGA GCATCCCTGGTCCAGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTG GGGTGAGGTGTCGGCAGAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGC AGAGCATCCCTCATGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGT GGGTCTGGGGTGAGGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGT CGGCAGAGCATCCCTCGTGGGTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(344): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACACCTCACCCCGGACCCA CGAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTG CCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCC CG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp2 HG03130.hp1 HG02922.hp1 HG02976.hp2 HG03130.hp1	a0010 a0027 a0010 a0027	a0010c0006 a0027c0035 a0010c0006 a0027c0035	a0010c0006t0001 a0027c0035t0001 a0010c0006t0001 a0027c0035t0001	a0010c0006t0001g0008 a0010c0006t0001g0047 a0027c0035t0001g0040 a0010c0006t0001g0008 a0010c0006t0001g0047 a0027c0035t0001g0040	3	82	0.0366	351	c.218 others(368): Show c.2184+997_2184+998insCGGGGTGAGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGA GCATCCCTGGTCCAGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTG GGGTGAGGTGTCGGCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGC AGAGCATCCCTCATGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGT GGGTCTGGGGTGAGGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGT CGGCAGAGCATCCCTCGTGGGTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar
FAM120B_chr6_170301758_170412067	170399986	A A	AGGAAGGT others(344): Show AGGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGA ACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATA ACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAA GGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTAGAACTAT GTCATAACTCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCT TAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGT GG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0187 a0001c0001t0025g0187	1	289	0.0035	351	c.269 others(370): Show c.2692+4430_2692+4431insCCTTAGGAGTGAGTGAGGAAGGTAGA ACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATA ACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAG TGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGAAA GGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGGAAAGGTAGAACTAT GTCATAACTCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCT TAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGT GGGGAAGGTAGAACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170400005	A A	ATAACCCT others(344): Show ATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAG GAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGG GAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGTGAGAAAGGTAGAAC TATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAC CCTTAGGAGTGAGTGAGGAAGGTAGAACTATGTCATAACCCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAAGCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGT CT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	289	0.0035	351	c.269 others(370): Show c.2692+4430_2692+4431insCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAG TGAGTGAGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAA GGTAGAACTATGTCATAACCCTTAGGAGTGAGTGAGGAAGGTAGAACTAT GTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCT TAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAAGCCTTAGGAGTGAGT GGGGAAGGTAGAACTATGTCTTAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FBH1_chr10_5885243_5942593	5928146	T T	TTCTTTTT others(344): Show TTCTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTGTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCT GGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	344	0.0029	351	c.282 others(368): Show c.2829+620_2829+621insGTTTTTTTTTTTTTTTTTTGTTTTTTTT TTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCC CAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCC TGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTCTTTTTTTTTTTTT	FBH1	ENSG00000134452.20	transcript	ENST00000362091.9	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
FBRSL1_chr12_132485151_132590188	132563011	A A	ACCTGGCC others(344): Show ACCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTGCACC CCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTG CACCCCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAG CCTGCACCCCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCC ACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGC CCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTGCACCCCACGCC TGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTGCACCCCA CG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0000 a0000	a0000c0015 a0000c0015	a0000c0015t0004 a0000c0015t0004	a0000c0015t0004g0047 a0000c0015t0004g0047	1	348	0.0029	351	c.646 others(368): Show c.646-4207_646-4206insCCCCACGCCTGGCCCCCACAGCCTGCAC CCCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCT GCACCCCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACA GCCTGCACCCCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCC CACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTGCACCCCACGCCTGG CCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTGCACCCCACGC CTGGCCCCCACAGCCTGCACCCCACGCCTGGCCCCCACAGCCTGCACCCC ACGCCTGGCCCCCACAGCCTGCA	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FER1L6_chr8_123846987_124125061	123856031	A A	ATATGAGA others(344): Show ATATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACAT ATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATAT ACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGT ATATACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATAT ATGTATATACATATGTGTATGAGATATATGTATATACATATGTGTATGAG ATATATGTATATACATATGTGTATGAGATATATGTATATACATATGTGTA TGAGATATATGTATATACATATGTGTATGAGATATATGTATATACATATG TG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0028 a0004c0028	a0004c0028t0002 a0004c0028t0002	a0004c0028t0002g0057 a0004c0028t0002g0057	1	196	0.0051	351	c.-8+ others(366): Show c.-8+4057_-8+4058insATGTGTATGAGATATATGTATATACATATG TGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATATACA TATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATGTATA TACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATATATG TATATACATATGTGTATGAGATATATGTATATACATATGTGTATGAGATA TATGTATATACATATGTGTATGAGATATATGTATATACATATGTGTATGA GATATATGTATATACATATGTGTATGAGATATATGTATATACATATGTGT ATGAGATATATGTATATACAT	FER1L6	ENSG00000214814.7	transcript	ENST00000522917.5	protein_coding	1/40		INFO_REALIGN_3_PRIME	chr8	TogoVar
FKBP2_chr11_64236095_64249132	64237081	C C	CGAGAGAG others(344): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGAGAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	351	c.-40 others(362): Show c.-4056_-4055insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGGGA GGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAG	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		4013		chr11	TogoVar
FRMPD3_chrX_107444652_107610251	107570243	T T	TGAAATGT others(344): Show TGAAATGTTTACCAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0019 a0001c0005t0002g0019	1	183	0.0055	351	c.129 others(370): Show c.1296+5191_1296+5192insGGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAAATGTTTACCAG	FRMPD3	ENSG00000147234.11	transcript	ENST00000683843.1	protein_coding	12/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
FSTL5_chr4_161378897_162169000	161595049	T T	TCTTGTTT others(344): Show TCTTGTTTATATAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCG CGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCG GCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	142	0.0070	351	c.895 others(368): Show c.895-7475_895-7474insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAAAAA AAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGAATTATATAAACAAG	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	7/15			chr4	TogoVar
FXN_chr9_69030752_69084076	69054441	T T	TAAAGTAG others(344): Show TAAAGTAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCA CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0071 a0002c0003t0008g0071	1	432	0.0023	351	c.384 others(368): Show c.384+1197_384+1198insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCG GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCC ACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCAAAGTAGTTCTTTTTT	FXN	ENSG00000165060.15	transcript	ENST00000484259.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
GALNT13_chr2_153866922_154458979	154298757	C C	CAATGTAT others(344): Show CAATGTATATACAATTTATATATACAATGTATATATAAATTATATATACA TTGTATATACAATTTATATATACAATGTATATATAAATTATATATACAAT TTATATATAAATTATATATACAATTTATATATAAATTATATATACAATTT ATATATAAATATATACAATTTTATATATAATATATAATTTATATATGTAT ATATAATTTATATATAATTTATATATGTATATATAATTTATATATAATTT ATATATAATTTATATATGTATATATAATTTATATATAATTTATATATAAT TTATATATGTATATATTGTATATATGTATAAATTGTATATATGTATACAA TT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0104 a0001c0001t0009g0104	1	214	0.0047	351	c.976 others(368): Show c.976-2652_976-2651insAATGTATATACAATTTATATATACAATG TATATATAAATTATATATACATTGTATATACAATTTATATATACAATGTA TATATAAATTATATATACAATTTATATATAAATTATATATACAATTTATA TATAAATTATATATACAATTTATATATAAATATATACAATTTTATATATA ATATATAATTTATATATGTATATATAATTTATATATAATTTATATATGTA TATATAATTTATATATAATTTATATATAATTTATATATGTATATATAATT TATATATAATTTATATATAATTTATATATGTATATATTGTATATATGTAT AAATTGTATATATGTATACAATT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12			chr2	TogoVar
GLB1L3_chr11_134271379_134324564	134308497	A A	ACCACCAC others(344): Show ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAC TACCACCACCATCACCATCACCATCACCATCATCACCACCATCACCACCA TCACCACCACCACCACCATCACCACCATCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCACCAAATACCACCACCACCACCACCACCA CCACTACCACCACCATCACCATCACCATCACCATCATCACCATCACCACT ACCACCACCACCACCACCACCACCATCACCACCATCACCACCATCACCAT CATCACCATCACCACCACCACCATCATCACCATCACCACCACCACCACCA TC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0200	1	422	0.0024	351	c.962 others(368): Show c.962-1129_962-1128insCCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACTACCACCACCATCACCATCACCATCACCA TCATCACCACCATCACCACCATCACCACCACCACCACCATCACCACCATC ACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAAATA CCACCACCACCACCACCACCACCACTACCACCACCATCACCATCACCATC ACCATCATCACCATCACCACTACCACCACCACCACCACCACCACCATCAC CACCATCACCACCATCACCATCATCACCATCACCACCACCACCATCATCA CCATCACCACCACCACCACCATC	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19			chr11	TogoVar
GLIS1_chr1_53501239_53744164	53713134	A A	AGGCAACA others(344): Show AGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGG TGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCAT CTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGAC CAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCA ACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGA CCTCAACTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTT CAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCC TG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0126 a0001c0005t0001g0126	1	236	0.0042	351	c.259 others(370): Show c.259+24671_259+24672insCAGGCTGGTCTTGAAGAGATGAGGTC TCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTG CCCAGGCTGGTCTTGAAGAGTTGAGGTCTCACCATGTTGCCCAGGCTGGT CTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGAT GAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACC ATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAG GCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGA AGAGATGAGGTCTCACCATGTTGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GLIS1_chr1_53501239_53744164	53713134	A A	AGGCAACA others(344): Show AGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGG TGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCAT CTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGAC CAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCA ACATGGTGAGACCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGA CCTCATCTCTTCAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTT CAAGACCAGCCTGGGCAACATGGTGAGACCTCATCTCTTCAAGACCAGCC TG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(58): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01261.hp1 HG01496.hp1 HG01515.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp2 HG02145.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02717.hp1 HG02895.hp1 HG02896.hp1 HG03486.hp1 HG03492.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18985.hp1 NA18990.hp2 NA18999.hp1 NA19002.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp2 NA19064.hp1 NA19087.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0011 a0012 a0015 a0017 a0018	a0001c0001 a0001c0005 a0002c0002 others(14): Show a0001c0001 a0001c0005 a0002c0002 a0002c0006 a0002c0037 a0003c0003 a0003c0010 a0006c0007 a0007c0008 a0008c0012 a0009c0011 a0011c0020 a0011c0040 a0012c0021 a0015c0046 a0017c0044 a0018c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0005t0001 a0001c0005t0002 a0001c0005t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0006t0001 a0002c0037t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0010t0001 a0003c0010t0002 a0006c0007t0009 a0007c0008t0008 a0008c0012t0004 a0008c0012t0005 a0009c0011t0002 a0009c0011t0013 a0011c0020t0004 a0011c0020t0005 a0011c0040t0002 a0012c0021t0001 a0015c0046t0002 a0017c0044t0002 a0018c0041t0002	a0001c0001t0001g0080 a0001c0001t0001g0138 a0001c0001t0001g0177 others(58): Show a0001c0001t0001g0080 a0001c0001t0001g0138 a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0002g0104 a0001c0001t0002g0116 a0001c0001t0002g0134 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0005g0121 a0001c0001t0005g0139 a0001c0001t0005g0184 a0001c0001t0005g0209 a0001c0001t0010g0181 a0001c0001t0017g0118 a0001c0005t0001g0056 a0001c0005t0001g0128 a0001c0005t0001g0146 a0001c0005t0001g0188 a0001c0005t0002g0105 a0001c0005t0002g0191 a0001c0005t0005g0195 a0002c0002t0001g0062 a0002c0002t0001g0065 a0002c0002t0001g0120 a0002c0002t0002g0186 a0002c0002t0002g0189 a0002c0002t0002g0236 a0002c0002t0005g0094 a0002c0006t0001g0117 a0002c0006t0001g0161 a0002c0037t0001g0069 a0003c0003t0001g0122 a0003c0003t0001g0207 a0003c0003t0002g0119 a0003c0003t0002g0190 a0003c0003t0002g0234 a0003c0003t0004g0220 a0003c0010t0001g0175 a0003c0010t0002g0124 a0006c0007t0009g0051 a0007c0008t0008g0027 a0008c0012t0004g0176 a0008c0012t0005g0187 a0008c0012t0005g0199 a0009c0011t0002g0135 a0009c0011t0013g0193 a0011c0020t0004g0185 a0011c0020t0005g0180 a0011c0040t0002g0078 a0012c0021t0001g0173 a0015c0046t0002g0087 a0017c0044t0002g0172 a0018c0041t0002g0204	61	236	0.2585	351	c.259 others(370): Show c.259+24671_259+24672insCAGGCTGGTCTTGAAGAGATGAGGTC TCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTG CCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGT CTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGAT GAGGTCTCACCATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACC ATGTTGCCCAGGCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAG GCTGGTCTTGAAGAGATGAGGTCTCACCATGTTGCCCAGGCTGGTCTTGA AGAGATGAGGTCTCACCATGTTGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	2/10			chr1	TogoVar
GRIK2_chr6_101388708_102075083	101512671	C C	CTTTTTTT others(344): Show CTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCA CT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0035 a0001c0002t0003g0035	1	116	0.0086	351	c.116 others(372): Show c.116-109271_116-109270insTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCACTTTTTTTT	GRIK2	ENSG00000164418.22	transcript	ENST00000369134.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC6_chrX_48797067_48829976	48813210	T T	TCTGGTGA others(344): Show TCTGGTGATAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCCGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	269	0.0037	351	c.807 others(368): Show c.807-1215_807-1214insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCCGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCTGGTGATAATTTTT	HDAC6	ENSG00000094631.22	transcript	ENST00000334136.11	protein_coding	10/28		INFO_REALIGN_3_PRIME	chrX	TogoVar
HMGCLL1_chr6_55429373_55584192	55477220	A A	ATAATATA others(344): Show ATAATATATAATATATATAATATATAATATATATTATATAATATATAATA TATATTATATATATAATATATAATATATATAATATATAATATATATTATA TAATATATATTATATAATATATATTATATAATATATAATATATAATATAT AATATATAATATATAAATATATAAAATATATTTATATATTATATTTTATA TATTATATATTATATAATATATATTATATTTATATAAATATAATATATAT AATATATAATATATATTATATAATATATAATATATATTATATATATAATA TATAATATATATAATATATAATATATATTATATAATATATAATATATATT AT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA18522.hp2 HG02896.hp2 HG02897.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0225 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0001g0225 a0001c0001t0004g0223 a0001c0001t0004g0224	3	334	0.0090	351	c.795 others(370): Show c.795+18198_795+18199insATAATATATATTATATATTATATAAT ATATATTATATATTATATATATTATATATTATATATATAATATATATTAT ATATTATATAATATATATTATATATTATATATATTATATTTATATAAATA TAATATATATTATATAATATATAATATATAAAATATAATATATAAATATA TTTTATATATTTATATATTATATATTATATATTATATATTATATATTATA TAATATATATTATATAATATATATTATATAATATATATTATATATTATAT ATATTATATATTATATATATAATATATATTATATATTATATAATATATAT TATATATTATATATATTATATATTA	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	7/8			chr6	TogoVar
HNRNPDL_chr4_82417569_82435462	82419529	T T	TAAAGATT others(344): Show TAAAGATTACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	348	0.0029	351	c.53 others(362): Show c.5376_*5377insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCC GCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCAGTAATCTTT	HNRNPDL	ENSG00000152795.18	transcript	ENST00000295470.10	protein_coding		3039		chr4	TogoVar
HPCAL1_chr2_10297904_10432604	10399214	C C	CCACCACC others(344): Show CCACCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCATCACCACCATCACCATCACC ATCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC AT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	314	0.0032	351	c.-25 others(368): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCATCACCACCATCACCA TCACCATCACCGCCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399214	C C	CCACCACC others(344): Show CCACCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCATCACCACCATCACCATCACCATC ACCATCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCATCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC AT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	314	0.0032	351	c.-25 others(368): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCATCACCACCATCACCATCA CCATCACCATCACCGCCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399223	C C	CCACCACC others(344): Show CCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCATCACCACCACCACCAC CACCATCACCACCATCACCATCATCACCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCACCATCATCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCATCACCATCATCACCACCACCACCACC AT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	314	0.0032	351	c.-25 others(368): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCATC ACCACCACCACCACCACCATCACCACCATCACCATCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCA CCATCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCATCACCACCATCACCATCATCA CCACCACCACCACCATCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152654	C C	CACCACCA others(344): Show CACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTA CCACCATCACCTCCTCCACCATCACCACCACCACCATCTCCTTCATCACC ACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCAT CTCCTTCATCACCACTACCCCCACCACTACCACCATCACCATCACCTCCA CCACCACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATC ACCATCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCAG CACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCA CT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0162 a0001c0002t0004g0162	1	274	0.0037	351	c.804 others(368): Show c.804+4461_804+4462insAGTGGTGGTGGAGGAGATGGTGGTAGTG GTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGAT GGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGG TGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTG GTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGT GATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGG TGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAG GAGATAATGGTGGTGGTGGTGGT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IL10RA_chr11_117981394_118006483	118003568	T T	TAAGAATA others(344): Show TAAGAATATGGCTCTATCCAGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0016 a0007c0011t0002g0016	1	426	0.0024	351	c.39 others(362): Show c.3927_*3928insAAGAATATGGCTCTATCCAGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGA GGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGA GCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	IL10RA	ENSG00000110324.12	transcript	ENST00000227752.8	protein_coding		2086		chr11	TogoVar
IL18R1_chr2_102350796_102403776	102352893	A A	AATATATA others(344): Show AATATATAATATATAATATTATATATAATATATAATATACATTATATTAT ATATGATATATATTTTATATATTATATTATATATGATATATATTTTATAT ATTATATTATATATGATATATATTTTATATATATATAAAATTTATATATA ATATTATATATAATATTATATATTTTATATATAATATTATATATAATATT ATATATTTTATATATAATATTATATATAATATTATATATTTTATATAATA TTATATATAATATTATATATTTTATATAATATTATATATAATATTATATA TTTTATATATAATATATATTATATAATATTATATATATTATACATTACAT AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	366	0.0027	351	c.-35 others(362): Show c.-3536_-3535insATATATAATATATAATATTATATATAATATATAA TATACATTATATTATATATGATATATATTTTATATATTATATTATATATG ATATATATTTTATATATTATATTATATATGATATATATTTTATATATATA TAAAATTTATATATAATATTATATATAATATTATATATTTTATATATAAT ATTATATATAATATTATATATTTTATATATAATATTATATATAATATTAT ATATTTTATATAATATTATATATAATATTATATATTTTATATAATATTAT ATATAATATTATATATTTTATATATAATATATATTATATAATATTATATA TATTATACATTACATAT	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2902		chr2	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(344): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG AAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGG AAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAA GGGAGGAAGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGA AG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0155 a0001c0008t0002g0155	1	282	0.0036	351	c.290 others(370): Show c.2908-3810_2908-3809insCTTCCTCCCTTTCTCCCTTCCTCCCT CCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCT TCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCC TCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCC TCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTTTCTCCCTT CCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTC CCTCCCTTCCTCCCTCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INO80_chr15_40973880_41121280	41031547	G G	GAAGGGAG others(344): Show GAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGAAG GGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGA GGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAA GGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGG AAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGG GAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAG GA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	282	0.0036	351	c.290 others(370): Show c.2908-3812_2908-3811insTCCTCCCTCCCTTCCTCCCTTTCTCC CTTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCC CTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCC TTCCTCCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCC TCCCTCCCTTCCTCCCTCCTCCCTT	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
JAK1_chr1_64828229_64971549	64881262	T T	TAAAAAAT others(344): Show TAAAAAATATTAAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTG AGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0024	1	326	0.0031	351	c.205 others(368): Show c.205+2014_205+2015insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGCCAAAATTTTAATATTTTTT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	3/24			chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(344): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATTAAATATATATTA TATATATAAAATATATATAAAATATATATTATATAAAATATATATAAAAT ATATATTATATAAAATATATATAAAATATATATTATATAAAATATATATT ATATATAAAATATATAATATATATAAAATATATACTATATATAAAATATA TA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01496.hp1 HG01361.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0042 a0001c0001t0040g0043 a0001c0001t0040g0042 a0001c0001t0040g0043	2	260	0.0077	351	c.963 others(370): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT TAAATATATATTATATATATAAAATATATATAAAATATATATTATATAAA ATATATATAAAATATATATTATATAAAATATATATAAAATATATATTATA TAAAATATATATTATATATAAAATATATAATATATATAAAATATATACTA TATATAAAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63442779	C C	CCATCACC others(344): Show CCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATCACC ACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCACCAC CATCACCACCATCACCACCACCACCATCACCATCACCACCACCATCACCA TTATCACCACCACCATCACCACCATCACCATCACCACCATCACCATCACC ACCATCACCATCACCATCACCACCACCACCACCATCACCATCACCACCAC CATCACCATTATCACCACCACCATCACCACCATCACCACCACCACCATCA CCATCACCACCACCATCACCATTATCACCACCACCATCACCACCATCACC AT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0060 a0002c0001t0002g0060	1	330	0.0030	351	c.691 others(366): Show c.691-249_691-248insATGGTGATGGTGGTGATGGTGGTGGTGATA ATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGAT GGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGG TGGTGATGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGATGGTGATG GTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGG TGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTA ATGGTGGTGGTAATGGTGATG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIAA0319_chr6_24539107_24651191	24565343	T T	TAGAAATG others(344): Show TAGAAATGGCAGGAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0023 a0023	a0023c0016 a0023c0016	a0023c0016t0055 a0023c0016t0055	a0023c0016t0055g0052 a0023c0016t0055g0052	1	300	0.0033	351	c.229 others(370): Show c.2293-1004_2293-1003insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCATTCCTGCCATTTCT	KIAA0319	ENSG00000137261.15	transcript	ENST00000378214.8	protein_coding	14/20			chr6	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCACAC others(344): Show CCCCACACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCA AACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCAC CTGAGAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCC TCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCC CCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAA ACACTCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACC TGAGAGATCCCTCCCCATCCCCCCCACCACTCACCCGAAAGATCCCTCTC CA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0189 a0001c0001t0033g0189	1	398	0.0025	351	c.64+ others(368): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG GGGGGGATGGGGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTG GAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGAT CTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAG TGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGG CGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGG AGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATC TTTCGGGTGAGTGGTGGTGTGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA0930_chr22_45187244_45245894	45229039	A A	ACCCCCCC others(344): Show ACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCCCCATCCCCCCC ACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAG ATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCAC CCCCACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCACC ACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACAC TCACCCGAGAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAG AGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCCCC AT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0151 a0001c0001t0151	a0001c0001t0151g0326 a0001c0001t0151g0326	1	398	0.0025	351	c.64+ others(368): Show c.64+11600_64+11601insATGGGGAGGGATCTTTCGGGTGAGTGGT GGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGG GGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAG GGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGGGTGAGTG GTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGGGGGGATGGGGAGGGATCTTTCGG GTGAGTGTTTGGTGGTGGGGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIR2DL4_chr19_54798610_54819517	54819354	G G	GAGGCAGA others(344): Show GAGGCAGAGGTTTCAGTGAGCCAAGACAACACCACTACACTCCAGCCTGG GTGAAAAAGTGACTGTCTCAAAAATAAATTAATTAATCAATTAATTAAAG AAACCAAACAAGGAGAAGGTTGGCTACCCTGAGATCAGCAAGGGCAGGAT GCTGATGTTACCACCAGGCTCCATCCACATAGGAAGGGGTTGATGCTCCT GGAACCAGCACCAGGGGCCACCCTATGGAAGCTGGGGCCATGGAGAAGGC ACAGACATGGCAGGAGAGGCTCCCAATCCCCATCAGGAACAGGGTGTGTG GTCACTGATGTCTGTCTTACTGATGAGTTGATACCACCTGCCAGAGACTC CA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(73): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01981.hp2 HG02027.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp2 HG02280.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02886.hp1 HG02965.hp1 HG03669.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 NA18612.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp2 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18961.hp1 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19012.hp2 NA19030.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0002 a0002	a0002c0001 a0002c0010 a0002c0018 a0002c0001 a0002c0010 a0002c0018	a0002c0001t0001 a0002c0001t0005 a0002c0010t0001 others(1): Show a0002c0001t0001 a0002c0001t0005 a0002c0010t0001 a0002c0018t0001	a0002c0001t0001g0002 a0002c0001t0001g0022 a0002c0001t0001g0041 others(7): Show a0002c0001t0001g0002 a0002c0001t0001g0022 a0002c0001t0001g0041 a0002c0001t0001g0042 a0002c0001t0001g0044 a0002c0001t0001g0045 a0002c0001t0005g0002 a0002c0001t0005g0043 a0002c0010t0001g0002 a0002c0018t0001g0002	76	413	0.1840	351	c.52 others(362): Show c.5243_*5244insAGGCAGAGGTTTCAGTGAGCCAAGACAACACCAC TACACTCCAGCCTGGGTGAAAAAGTGACTGTCTCAAAAATAAATTAATTA ATCAATTAATTAAAGAAACCAAACAAGGAGAAGGTTGGCTACCCTGAGAT CAGCAAGGGCAGGATGCTGATGTTACCACCAGGCTCCATCCACATAGGAA GGGGTTGATGCTCCTGGAACCAGCACCAGGGGCCACCCTATGGAAGCTGG GGCCATGGAGAAGGCACAGACATGGCAGGAGAGGCTCCCAATCCCCATCA GGAACAGGGTGTGTGGTCACTGATGTCTGTCTTACTGATGAGTTGATACC ACCTGCCAGAGACTCCA	KIR2DL4	ENSG00000189013.16	transcript	ENST00000345540.10	protein_coding		4838		chr19	TogoVar
KIR3DL1_chr19_54811468_54835778	54819354	G G	GAGGCAGA others(344): Show GAGGCAGAGGTTTCAGTGAGCCAAGACAACACCACTACACTCCAGCCTGG GTGAAAAAGTGACTGTCTCAAAAATAAATTAATTAATCAATTAATTAAAG AAACCAAACAAGGAGAAGGTTGGCTACCCTGAGATCAGCAAGGGCAGGAT GCTGATGTTACCACCAGGCTCCATCCACATAGGAAGGGGTTGATGCTCCT GGAACCAGCACCAGGGGCCACCCTATGGAAGCTGGGGCCATGGAGAAGGC ACAGACATGGCAGGAGAGGCTCCCAATCCCCATCAGGAACAGGGTGTGTG GTCACTGATGTCTGTCTTACTGATGAGTTGATACCACCTGCCAGAGACTC CA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00544.hp1 others(60): Show HG00099.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02280.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG03834.hp2 HG04115.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18948.hp2 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2	a0002 a0025 a0026 a0002 a0025 a0026	a0002c0002 a0002c0038 a0025c0036 others(1): Show a0002c0002 a0002c0038 a0025c0036 a0026c0037	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(3): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0038t0002 a0025c0036t0003 a0026c0037t0002	a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0028 others(25): Show a0002c0002t0002g0002 a0002c0002t0002g0020 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0121 a0002c0002t0002g0124 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0012g0002 a0002c0002t0013g0002 a0002c0038t0002g0123 a0025c0036t0003g0122 a0026c0037t0002g0125	63	395	0.1595	351	c.356 others(366): Show c.356-358_356-357insGGCAGAGGTTTCAGTGAGCCAAGACAACAC CACTACACTCCAGCCTGGGTGAAAAAGTGACTGTCTCAAAAATAAATTAA TTAATCAATTAATTAAAGAAACCAAACAAGGAGAAGGTTGGCTACCCTGA GATCAGCAAGGGCAGGATGCTGATGTTACCACCAGGCTCCATCCACATAG GAAGGGGTTGATGCTCCTGGAACCAGCACCAGGGGCCACCCTATGGAAGC TGGGGCCATGGAGAAGGCACAGACATGGCAGGAGAGGCTCCCAATCCCCA TCAGGAACAGGGTGTGTGGTCACTGATGTCTGTCTTACTGATGAGTTGAT ACCACCTGCCAGAGACTCCAA	KIR3DL1	ENSG00000167633.18	transcript	ENST00000391728.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar

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